Limb Threatening Conditions

When facing a diagnosis of extremity tumor, infection, or trauma it is important to equip yourself with up-to-date information about the condition, its treatment, and the anticipated outcomes. Here’s a closer look at some of the conditions that can lead to limb loss.

EXTREMITY INFECTION

Bones and soft tissues of the extremities are well protected against developing an infection. Our body’s natural immune process is very good at recognizing a foreign object or organism (bacteria or fungus) and effectively ‘fighting it off’. In addition, our skin is a natural barrier against infective organisms.

When an extremity infection does occur it is usually due to one of the body’s natural defense systems being weakened or disrupted. A weakened immune system occurs as a result of a number of diseases such as rheumatoid arthritis or other autoimmune disorders, cancer, diabetes, and peripheral vascular disease. A disruption to the body’s ability to stop invasive organisms includes traumatic accidents where there is a significant injury to soft tissues and bone, as well as during surgical procedures where there is an incision that potentially exposes deeper tissues to infection-causing organisms.

While extremity infections are rare when they do occur they are very serious and can be limb or life-threatening.

TYPES OF EXTREMITY INFECTION:

Osteomyelitis | A Deep Bone Infection

Osteo is a Greek term meaning bone and myelitis is a Latin term meaning infection of the bone marrow (or spinal canal). So, osteomyelitis is a deep bone infection. This is a serious problem that is often due to having an open wound that is located over a bone. The open wound allows bacteria into the area and because this environment of a wound is one that bacteria can thrive in, an infection can occur.

The reason for an open wound over a bone can be from a disease like diabetes or peripheral vascular disease, or it may be from a trauma where there was significant soft tissue loss. Osteomyelitis can develop acutely over a period of a week to 10 days, or it may develop slowly as the bacteria have had time to grow.

SIGNS AND SYMPTOMS OF OSTEOMYELITIS

People with active osteomyelitis infection describe feeling nauseated and having fever-like symptoms. There is usually tenderness, redness, and warmth in the area of the infection and as well as swelling of the area. If the osteomyelitis is near a joint there may be a loss of motion at that joint. In addition, pain associated with the infection may lead to reluctance to use the extremity.

When the infection is active there may be drainage from an open area or sinus tract leading to the infected area. This is less common with chronic or long-term osteomyelitis.

DIAGNOSIS OF OSTEOMYELITIS

	Blood tests like erythrocyte sedimentation rate (Sed rate) or C-reactive protein (CRP) are used to determine if there is an active response by the body to some type of infective process. These tests are not specific to osteomyelitis and, if the osteomyelitis is chronic, these tests may be normal.
	An MRI or CT scan may be ordered to see if there is a process occurring in the bone but these are also not specific to osteomyelitis. A CT is preferred for infections within the bone while MRI is more sensitive for joint or soft tissue involvement.
	Cultures of fluid and tissue from a draining sinus or from an open wound can help in determining the organism causing the infection.
	A bone biopsy with cultures is necessary to confirm a diagnosis of osteomyelitis. This is usually done as an open procedure or with CT (CAT) scan guidance.
	A PET/CT may be ordered to determine if there is an infective process, especially if other tests do not confirm a diagnosis. Studies are showing the PET/CT is effective in detecting chronic osteomyelitis.¹

TREATMENT

Osteomyelitis is a serious infection and if not treated aggressively, or if the infection doesn’t respond to treatment it can result in amputation. A combination of surgery and antibiotic therapy is necessary to adequately treat osteomyelitis.

The goal of surgery is to get rid of any infected bone and tissue, as well as remove any foreign material (orthopedic implants or sutures) that might be present from previous surgery. Once the area has been thoroughly debrided and washout out, the gap created in the bone is filled with some type of antibiotic spacer. Antibiotic impregnated cement beads or pellets are often used as well.

During the debridement, the infected tissue is collected and analyzed so that the organism causing the infection can be identified. It can take several days for the results to be known but once the type of bacteria is identified an infectious disease specialist can determine the best antibiotic to use to treat the osteomyelitis.

The antibiotics are most often given intravenously (through an IV) and the full course is at least 6 weeks. During this time, a patient is followed closely by an infectious disease specialist in order to monitor the response to the antibiotic treatment. Once the infectious disease specialist and the orthopedic surgeon feel the infection has been managed the reconstructive surgery can take place.

There are a number of options for reconstructive surgery following debridement and antibiotic therapy.

These include:

the use of allograft (bone bank) tissue,
bone and soft tissue transfer (moving bone and muscle from one part of the body to the area),
bone transport (use of external fixators to regrow bone in the area),
use of orthopedic implants

Each patient’s situation is very different so the orthopedic surgeon will discuss the best options with the patient, educating them on recovery time, anticipated function, and potential for recurrence of the infection.

References
1. Pineda C, Vargas A, Rodríguez AV. Imaging of osteomyelitis: current concepts. Infect. Dis. Clin. North Am. 2006;20 (4): 789-825

Infected Joint Replacement | Hip, Knee, or Shoulder

Joint replacement surgery is an extremely effective way to manage end-stage arthritis of joints such as the hip, knee, or shoulder. Most patients are very satisfied with the result and are able to get back to the activities they love after they have rehabilitated from the surgery. Unfortunately, about 1% of joint replacements become infected¹ and for this group of people it is imperative they undergo further treatment to get rid of or at least control the infection.

Determining the exact cause of an infected joint replacement is very difficult. Things that contribute could be a patient’s overall health status at the time of the operation – individuals with diabetes, who smoke, who have autoimmune disorders or those who are obese are at a higher risk for infection. Although hospitals and surgeons employ strict protocols to minimize the risk of infection during the surgery, there is a risk that something could occur during the operation placing someone at a risk for infection.

Finally, unidentified infections that a patient might have, such as dental issues, could lead to infection of the joint prosthesis. Infective organisms have an amazing ability to locate “foreign material” in a person’s body and migrate to this material. Therefore, if a person has an infection in another part of their body, the organisms may migrate to the total joint implants and grow around the implant and into the bone.

SYMPTOMS OF AN INFECTED JOINT REPLACEMENT

Signs and symptoms of a total joint infection may include:

Warmth and redness in the area of the joint
Increased pain or stiffness in a joint that was previously functioning quite well
Fever, chills, fatigue and/or nausea
Smelly, cloudy drainage from a surgical incision

DIAGNOSING AN INFECTED JOINT REPLACEMENT

It may take a combination of signs and symptoms and diagnostic tests to confirm that a joint is infected. The following diagnostic tests raise the suspicion for infection:

	X-rays may show evidence of loosening of the total joint implant caused by the bacteria destroying the bone around the implant.
	A bone scan may be positive when there is an active infection. There will be an area of increased radioactive dye uptake around the joint.
	Blood tests like erythrocyte sedimentation rate (Sed rate) or C-reactive protein (CRP) raise suspicion for infection if they show an elevation in the markers that indicate an inflammatory process is occurring.
	An orthopedic surgeon may use a needle to withdraw fluid from the joint (aspiration) and have that fluid analyzed to see if the types of cells that fight infection (white blood cells called neutrophils) are elevated. An abnormally elevated white cell count can indicate there is an infection.

TREATMENT OF JOINT INFECTION

Superficial infections
If the infection is “superficial” meaning just the skin or soft tissue is infected, and the infection hasn’t moved deep into the joint, then a course of oral or intravenous (IV) antibiotics may be all that is needed to manage the infection. When an infection is identified early, before it reaches the joint, the success of the treatment is good.

Deep infections
When an infection has reached the joint, surgery is necessary except in a situation where a person is too debilitated to tolerate surgery.
If an infection that has reached the joint is caught early, a surgical debridement (removal) of the affected soft tissue and washing out of the joint may be the extent of the surgical intervention. Any plastic components of the joint replacement will be replaced as well. After the surgery, a patient will complete a course of IV antibiotics, usually at least 6 weeks in duration.

For an infection that occurs a long time after the original joint replacement surgery, or is causing more severe symptoms, surgical intervention is a two-stage process.

	The first stage involves removing the joint implants and any bone that is felt to be affected. It is important that the debridement (removal) of infected bone is very thorough and every attempt is made to remove any bone that is thought to be infected. Once this is complete, a temporary joint spacer is placed in the area. This spacer, which is usually made of an antibiotic infused material, holds the joint in anatomical alignment while helping to treat the infection.
	After this first surgery, a patient is started on a course of intravenous (IV) antibiotics that take several weeks to complete. The antibiotics that are prescribed are specific for the type of organism that is causing the infection. Patients are followed closely by an infectious disease specialist while on IV antibiotics. Periodic blood tests are necessary to monitor any signs of infection or complications that might result from these very powerful medications.
	Once the antibiotic course has been completed, and the infectious disease specialist and orthopedic surgeon feel the infection has been managed, the second stage of the treatment is completed. This is a surgical procedure where the spacer is removed, the joint washed out, and a revision joint replacement prosthesis is placed in the joint.

When a patient is too ill or debilitated to undergo a surgical procedure and IV antibiotics, the managing physicians may recommend chronic antibiotic suppression therapy. Chronic suppression requires the patient to take oral antibiotics for the remainder of their lifetime. It is not a way to cure the infection however, but it may allow the patient to continue to avoid risky surgery while minimizing the symptoms of the infection for the remainder of their lifetime.

Joint infection is a potential limb or life-threatening complication that must be managed by the appropriate medical professionals. A team that includes an infectious disease specialist and an orthopedic surgeon is imperative to effectively manage this difficult problem.

<strong<=>References
1. Kurtz SM, Lau E, Schmier J, Ong KL, Zhao K, Parvizi J. Infection burden for hip and knee arthroplasty in the United States. J Arthroplasty. 2008 Oct. 23(7):984-91</strong<=>

Septic Arthritis | Bacterial or Fungal Organism

Septic, or infectious, arthritis is a very painful process that can lead to significant joint destruction if it isn’t managed quickly and effectively. It occurs when a joint that hasn’t been replaced becomes infected by some type of bacterial or fungal organism. The organism causing the infection might reach the joint through the bloodstream, as a result of another infection in the body (such as a urinary tract infection or bladder infection), or it may be the result of an injury where something pierced into the joint from the outside (such as a bite or puncture into the joint).
The joint responds to the bacteria by becoming inflamed. This inflammation, if left untreated, can lead to the breakdown of the joint lining much like what occurs in arthritis due to degenerative joint disease.

Some people may be more susceptible to developing septic arthritis. Having an autoimmune disorder like rheumatoid arthritis can place someone at a higher risk because they are less able to fight off an infection especially if they are taking medications to treat their autoimmune disorder.

SYMPTOMS OF SEPTIC ARTHRITIS

In addition to being extremely painful, septic arthritis can cause a joint to become inflamed and swollen. Because of the pain and swelling, the range of motion is usually decreased and a person with a septic joint will be less inclined to use that extremity.

DIAGNOSING SEPTIC ARTHRITIS

Diagnosing septic arthritis involves removing fluid from the affected joint (needle aspiration) and having the fluid analyzed. By analyzing the fluid, the treating physician will know the infective organism and be able to prescribe the most effective antibiotic to use to treat the infection.

An x-ray is often done to determine the extent of joint damage in order to help make recommendations for further treatment.

TREATMENT OF SEPTIC ARTHRITIS

Removing the infected joint fluid is necessary to effectively manage septic arthritis. This may be done as an arthroscopic surgical procedure where small incisions are made into the joint. A tube with a small camera is then inserted into the joint through one of the incisions, and other tubes are inserted to drain the joint and flush the joint fluid out. The camera allows the surgeon to look closely at the joint and examine the extent of the damage. In situations where an arthroscopic procedure won’t be effective, open irrigation and drainage will be necessary.

After the surgical procedure, a patient will be placed on a course of antibiotics to treat any infective organism that remains.

With early intervention, most people don’t have any functional loss from septic arthritis. If joint damage has occurred, further reconstructive surgery may be necessary due to the extent of the damage.

Soft Tissue Infection | Skin, Fat, Muscle

Infection in the soft tissues (skin, fat, and muscles) of the extremities can range from minor cellulitis to something life-threatening like necrotizing fasciitis. It’s important that any soft tissue infection, regardless of the severity, is evaluated by a medical specialist as soon as possible. Early diagnosis and treatment help minimize more significant complications.

Cellulitis – this is an infection of the skin and subcutaneous tissues (just below the skin) and is usually caused when a bacterial organism invades the tissue through a crack in the skin.

Symptoms of a less severe cellulitis infection include:

Redness and warmth of the affected area
Swelling
Pain

Symptoms of a more serious cellulitis infection include:

Fatigue
Fever & chills
Red lines streaking from the affected area (indicated the infection has moved into the lymph system)
Loss of skin over the area
Extreme pain

When the symptoms are less severe, there is little need for an extensive diagnostic workup and a physician can prescribe a course of oral antibiotics that will manage the infection very effectively. When the symptoms are more serious, a more thorough workup is often necessary to determine the exact organism causing the infection as well as the extent of the infection in the soft tissues.

Diagnostic testing for more serious cellulitis includes blood cultures to determine the extent of the body’s response to the infection, as well as cultures of the infected area. To obtain cultures the infected area could be biopsied or aspirated (removal of fluid). An MRI scan may be requested if there is concern that the infection has moved into deeper tissues.

Antibiotic therapy is the treatment of choice for cellulitis infection. In less severe cases, oral antibiotics that are effective for a broad number of organisms are usually prescribed and quite successful in the management of the problem. When the symptoms are those of a more severe infection, IV antibiotics may be necessary.

Some people experience recurrent cellulitis infections due to an underlying disease that makes them more susceptible to infection such as diabetes or an autoimmune disease. In cases of recurrence, a longer (12-month) course of antibiotics may be recommended ¹.

Necrotizing Fasciitis – this is a rare but serious bacterial skin infection that can spread quickly, killing soft tissues and leading to limb loss or death. Necrotizing fasciitis is more commonly known as a “flesh-eating” disease because of the death of soft tissue that it can cause.

	Necrotizing fasciitis is the result of bacteria invading the layers of connective tissue below the skin. These connective tissue layers are found between muscles, around vessels and nerves and down to the bones. While the development of necrotizing fasciitis is somewhat random, once the bacteria start to grow along with these layers of fascia, the organisms move very quickly, destroying healthy tissues. This rapid death of tissues can have a devastating effect on the body, causing the kidneys to overwork, eventually leading to kidney failure. The body works so hard in combating the infection that without proper and rapid treatment a person can become septic (total body infection) and die.
	The type of bacteria most commonly associated with this condition is group A Streptococcus but a number of other bacteria can cause the same soft tissue loss. Group A strep is not a rare bacteria but these extreme necrotizing infections are rare. Some people who develop necrotizing fasciitis have other health problems like diabetes or other chronic diseases that may lower their body’s ability to fight infection.
	Symptoms often start within hours after an injury and may be ignored because they seem to be related to the original injury. Pain, swelling, and warmth of the injured area are common. When the pain is more than what would be expected and swelling or redness is out of proportion with the injury, a more serious process could be occurring. Blisters or black spots on the skin can develop, and often people describe flu-like symptoms. Emergency medical care is necessary when the symptoms aren’t consistent with the injury.
	Treatment of a necrotizing infection involves high doses of intravenous (IV) antibiotics. In many cases, multiple surgical procedures are needed to remove any tissue that is affected by the infection. This is necessary to remove dead tissue and stop the infection from affecting other healthy tissues. The extent of surgery needed to control the infection can lead to amputation of affected limbs and need for reconstructive procedures once the infection has been eliminated.

While necrotizing fasciitis is a frightening condition, fortunately, it is rare. Individuals who have developed necrotizing infections have a long road of recovery but can get back to a high level of function due to the availability of prosthetic devices and rehabilitative services.

References
1. Thomas KS, Crook AM, Nunn AJ, Foster KA, Mason JM, Chalmers JR, et al. Penicillin to prevent recurrent leg cellulitis. N Engl J Med. 2013 May 2. 368(18):1695-70

EXTREMITY TRAUMA

Extremity trauma may be the result of a serious accident that changes life in an instant or due to a less significant injury. Broken bones, muscle and ligament damage, tendon rupture, or cartilage damage can lead to multiple surgical procedures and extended rehabilitation. Extremity injuries are some of the most common types evaluated in U.S. emergency rooms. Of all injuries reported by emergency rooms to the National Trauma Data Bank in 2014, 37% involved the lower extremity and 36% involved the upper extremity.¹

Injuries that occur at the time of an accident – acute injuries – are usually the only types of injuries categorized as ‘extremity trauma’ but the Limb Preservation Foundation recognizes that there can be sequelae from extremity trauma long after the initial treatment and hospitalization. Chronic (long-term) problems such as infection, nonunion, non-healing wounds, and deformity can become limb-threatening as well as an acute injury.

TYPES OF EXTREMITY TRAUMA:

Acute Extremity Trauma | Fractures, Soft Tissue, Vascular, Open Wound

Acute extremity trauma can require a team of specialists in order to fully manage potential problems. For the most serious extremity trauma, orthopedic surgeons, plastic surgeons, vascular surgeons, infectious disease as well as rehabilitation specialists work together to provide a patient with the best opportunity to save their limb. When the injury is so severe that amputation is recommended, these specialists work together to determine the amputation level to help the patient achieve the most optimal functional outcome.

Broken bones (fractures) as the result of extremity trauma can be simple uncomplicated fractures, or open (the bone has penetrated the skin), comminuted (the bone is in multiple pieces), and displaced (the bone fragments aren’t in alignment). Ligaments can be torn or severely strained. Cartilage might be damaged due to fracture through the joint. For a patient with any of these injuries, an orthopedic surgeon will evaluate and manage these problems.

Traumatic injuries like motorcycle accidents often result in significant soft tissue damage. A plastic surgeon may be needed to assess the extent of the injury and make recommendations for soft tissue reconstruction. In accidents that result in hand and finger partial or complete amputation, a plastic surgeon with specialty training in hand surgery is instrumental in repairing these injuries.

If there is a significant injury to any major blood vessel in the extremity, a vascular surgeon will be consulted in order to repair the damaged vessel. Unrecognized vascular injury can lead to amputation or even death if not managed rapidly.

When an extremity trauma results in an open wound, infectious disease specialists are consulted. An open wound has the potential to become infected so these specialists assess the type of wound and any potential infecting organisms. They then make recommendations regarding antibiotics to use in order to minimize the chance of infection.

Compartment syndrome is a potential problem in extremity trauma and if not recognized can lead to amputation. The muscles of our arms and legs are separated into “compartments” and a thick layer of fascia is the “wall” of the compartment. If there is a vascular injury that results in bleeding into the compartment, the pressure will build up in the compartment. This increase in pressure can cause the muscles to die and if not recognized can require amputation. Emergency physicians or consulting surgeons are trained to recognize signs of this problem. If compartment syndrome is suspected, a fasciotomy (cutting through the fascial “wall”) is done in order to release the pressure in the compartment.

Rehabilitation specialists (physical medicine and rehabilitation physicians) are part of the post-surgical team and help address any rehabilitation issues following traumatic extremity injury. They work closely with physical and occupational therapists to help the patient regain function following difficult injuries.

While this is certainly not a comprehensive list of the potential issues of extremity trauma, it includes some of the more common problems that do occur. A team of specialists helps to assure the best possible outcome following extremity injury.

Chronic/Long-Term Sequelae of Extremity Trauma

Chronic problems as a result of extremity injury can occur months or years after the initial injury. These problems include osteomyelitis (deep bone infection), nonunion (a fracture that hasn’t healed), and deformity such as bowing or excessive shortening and wound healing problems. All of these chronic problems can put a limb in jeopardy of amputation.

Management of chronic problems after extremity trauma can involve one surgical specialist or may require a team of specialists in order to manage the problem appropriately. There are a number of surgical procedures that may be recommended to attempt to manage the problem. An amputation may be recommended if a reasonable surgical result can’t be achieved or if the function would be better with amputation.

Osteomyelitis requires aggressive surgical debridement, appropriate antibiotic therapy, and surgical reconstruction once the infective organism has been managed. For more information about osteomyelitis and its management go to Osteomyelitis.

Nonunion of a fracture can be a difficult and frustrating problem. A number of factors can contribute to the development of a nonunion.

	Smokers experience a 12-15% higher rate of nonunion than nonsmokers. In addition, the healing time for a fracture in a smoker is about 6 weeks longer than a non-smoker.¹
	Diabetic patients can experience a higher nonunion rate as well as an increased time to fracture healing compared to non-diabetic patients. This is due to circulation problems, neuropathy and the nutritional compromise that a diabetic experiences.²
	Soft tissue damage at the fracture site can also contribute to nonunion. Open fractures (when the broken bone penetrates the skin) have a higher rate of nonunion than closed, and open comminuted (multiple fractures of the bone) fractures have the highest rate of nonunion.³

Deformity of a bone after a fracture has healed can also place a limb in jeopardy of amputation. If a bone has healed in a “bowed” shape, or if there is significant shortening because the fracture repair required shortening of the bone, a patient can experience difficulty with function or they may develop wounds or early joint degeneration due to abnormal pressure on soft tissues or joint.

TREATMENT OF CHRONIC PROBLEMS RELATED TO EXTREMITY TRAUMA

There is no “one size fits all” approach to the treatment of any of the chronic problems listed above. All vary in their severity so consultation with the appropriate specialist is the first step on the road to management.
Some surgical options that might be discussed to treat these problems include:

	Hardware revision – where the orthopedic implants (such as plates, screws, or rods) used to treat the fracture and removed, and new implants are utilized to correct the problem.
	Bone osteogenesis – for conditions where there is a loss of bone in the area (either due to surgical removal or poor bone formation after initial treatment) an external fixator designed to take advantage of a bone’s ability to form more bone is used; the frame is also called a Taylor Spatial Frame or Ilizarov frame.
	Osteotomy – this involves the removal of a piece of a bone in order to change the alignment.
	Vascularized bone flap – bones have a very good blood supply so surgeons take advantage of this characteristic in vascularized bone flap procedures where a small section of a bone is removed and moved to the area of a nonunion or where a significant piece of bone has been removed.
	Allograft reconstruction – a ‘tissue bank’ is an organization that receives donations of human bodies and processes the body for research or for medical use. An allograft bone is one that is received from a tissue bank after it has been appropriately processed. Allograft tissue is used quite commonly in orthopedic surgery. An allograft reconstruction involves the use of allograft bone to fill a gap where the bone was removed. Plates and screws are utilized to hold the allograft in place.
	Amputation– there is always the possibility that amputation is the best option for a patient. If a patient’s function will be better with an amputation, or if surgery to treat a chronic extremity problem would be dangerous for the patient, then amputation may be the best choice for treatment.

Before any decision regarding treatment is reached, it is important that a patient (and their family) understand the extent of the treatment as well as the potential functional outcome. Whenever possible, take some time to consider the options recommended.

References
1. Schenker M, et al. “Blowing smoke: a meta-analysis of smoking on fracture healing and postoperative infection” AAOS 2013; abstract 591
2. Loder RT. The influence of diabetes mellitus on the healing of closed fractures. Clin Orthop 1988;232:210–16
3. Gustilo et al; Problems in the management of type III (severe) open fractures: a new classification of type III open fractures; Journal of Trauma, 1984 Aug;24(8):742-6

EXTREMITY TUMOR

The extremities of the body (arms and legs) are made up of many types of cells often referred to as connective tissue. These cells include bone, cartilage, muscle, nerves, fat, and blood vessel cells. When something “triggers” one of these cell types to begin growing at an abnormal rate an extremity tumor (also called a mass) can form. These tumors may be malignant or benign.

Malignant is another word for cancer. Malignant tumors can spread to other areas of the body, such as the abdomen, lungs, brain, or other bones. The area of the body where a malignant tumor starts is considered the primary site. If a malignant tumor spreads to another area of the body the tumor is described as being metastatic.

A sarcoma is a cancerous (malignant) tumor of the connective tissues. There are many types of extremity sarcomas. While all are considered rare, there are some that are more common than others. In addition, those that are more commonly seen in kids may be different than those that are more commonly seen in adults.

TYPES OF EXTREMITY TUMORS | MALIGNANT EXTREMITY TUMORS IN ADULTS:

Osteosarcoma | Connective Tissue, Bone Cells

Osteo means bone and sarcoma is a malignancy (cancer) of connective tissue, so Osteosarcoma (osteogenic sarcoma or OGS) is a cancer of bone cells. Although osteosarcoma is one of the more common bone tumors, it is a rare type of cancer, with fewer than 1,000 new cases diagnosed each year in the United States.

In adults, there is an increased incidence of osteosarcoma from 60 – 70 years but it can affect a person of any age.1 The most common sites for OGS are the bones around the knee (distal femur and proximal tibia) in the upper arm (humerus) or in the upper thigh (proximal femur). But it can occur in any bone in the body including the spine, pelvis, and skull.

SIGNS AND SYMPTOMS OF OSTEOSARCOMA

Pain – the pain experienced with osteosarcoma is typically in the area of the tumor, which is often called local pain.
Swelling – there may be inflammation in the area of a tumor leading to swelling.
Decreased function – pain and swelling can contribute to a limited ability (or willingness) to use the affected extremity.
Fracture – the area of the bone where the tumor is located is weaker and more fragile than normal bone so fractures (called pathologic fracture) can occur in this area of the bone tumor.
Unintended weight loss – some people experience weight loss due to the body’s reaction to cancer.
Night sweats – night sweats should be mentioned to a physician when accompanied by other symptoms listed

CAUSE OF OSTEOSARCOMA

There is no evidence of a cause of bone cancer. There are situations that have been shown to increase the risk of developing bone cancer. For instance, there is an association of OGS in adults who were diagnosed with Paget’s disease. This doesn’t mean that all individuals who have been diagnosed with Paget’s disease will develop osteosarcoma as adults but there has been an association identified. Other conditions that have been associated with osteosarcoma are:

Previous treatment using radiation therapy.
Hereditary conditions:
Hereditary retinoblastoma
Diamond-Blackfan anemia
Li-Fraumeni syndrome
Rothmund-Thomson syndrome
Bloom syndrome
Werner syndrome

DIAGNOSTIC TESTS FOR OSTEOSARCOMA

The first test that raises suspicion for osteosarcoma is an x-ray. When there is an osteosarcoma present the x-ray often shows an area with a ‘sunburst’ type pattern in the region where a person is experiencing the pain. This pattern is caused by the cancerous bone-forming cells producing cancerous bone in a non-functional manner. Once a bone tumor is suspected it is very important that a patient sees an orthopedic oncologist before further testing or biopsy. Because it is a rare condition, bone cancer is best managed by a specialist who has training and experience in diagnosing and treating extremity sarcomas.

	MRI	An MRI enables the doctors to better see the full extent of the tumor. It is important to know if the tumor is ‘invading’ other tissues as treatment plans (such as surgical options) are being considered.
	Biopsy	A biopsy is necessary to determine the exact type of tumor as well as its grade (aggressiveness). It is important that the biopsy be done by a specialist experienced in appropriate biopsy of extremity tumors. A biopsy done incorrectly may limit surgical options, and in some cases make amputation the only surgical option.
	Bone scan	A bone scan is one of the tests done to help determine the extent of the cancer (staging). This is like an x-ray of your entire skeleton to see if there are any other areas of tumor.
	PET/CT scan	This test is another that is necessary for staging of the cancer. It reveals if the cancer has metastasized to the abdomen, brain or other areas of the body

OSTEOSARCOMA GRADE AND STAGING

It is important to know how aggressive a tumor is (the grade of the tumor) as well as the stage of the cancer (has it spread to other area of the body). This information helps the physicians in determining the best approach to treatment, as well as assisting in discussions about prognosis.

Osteosarcoma Grade – when a pathologist looks at the tumor tissue under a microscope they can determine if the tumor has the tendency to grow quickly and spread. Osteosarcoma grades are:

	Low grade	less likely to spread (metastasize)
	Intermediate grade	moderately aggressive so may spread to other areas
	High grade	more aggressive so likely to metastasize

Osteosarcoma Stage – stage combines the information from the diagnostic testing to determine the extent or severity of the disease process. The size of the tumor, if it has spread to other area such as the lungs, brain or other bones, as well as the grade are all considered when determining the stage. OGS staging is from I (one) to III (three) with stage I meaning the tumor is localized (only in the original site) and stage III indicating that the tumor has metastasized to other areas of the body.

TREATMENT OF OSTEOSARCOMA

Chemotherapy – “Chemo” is the use of medications to kill cancer cells and for treatment of osteosarcoma it is given systemically, meaning the medications enter the bloodstream and reach the cancer cells.

Depending on the treatment center, chemotherapy is given through the artery (intra-arterial) or through the vein (intravenous). Chemotherapy for OGS involves multiple courses of administration, for example the medications may be given once a week for several weeks.

Surgery – once the chemotherapy course is completed surgery is necessary to remove the bone tumor. It is very important that the entire tumor is removed in order to minimize the possibility that the tumor will return; therefore, the surgeon will remove a small amount of normal tissue around the tumor to better assure that no cancerous cells are left. Very careful surgical planning is necessary to accomplish complete removal (resection) of the bone tumor and maintenance of the patient’s best function.

Options can include:

	Resection	Removal of the tumor without “rebuilding” the area that the tumor was removed from, more common in pelvic tumors than tumors in the extremity
	Resection with reconstruction	Removal of the tumor and “rebuilding” with metal implants and/or bone allografts; soft tissue reconstruction may also be necessary
	Amputation	Removing the extremity at a level above the tumor

PROGNOSIS

Prognosis means ‘chance of recovery’ and is a question that is top of mind when any cancer diagnosis is received. There are factors that contribute to the prognosis of osteosarcoma.

Tumor site – the location of the tumor and whether there are tumors in more than one bone. Tumors in a location further from the center of the body have a better prognosis than those closer to the center of the body. Tumors in more than one bone indicate a later stage of the cancer which decreases the prognosis of survival.

Size of the tumor – larger tumors have a worse prognosis.

Presence of metastatic disease – the stage of cancer at the time of diagnosis contributes to prognosis. If disease has spread to the lungs or other sites the prognosis it is not as good.

Response to initial chemotherapy – when the tumor is resected during surgery it is tested to determine how much of the tumor died (indicating that the chemotherapy was effective). If the amount of necrosis (tissue death) is greater than 90% the prognosis is improved.

In general, the 5 year relative survival rate for adults diagnosed with bone cancer is ~ 70% 3. It is important to keep in mind that this rate includes people diagnosed with osteosarcoma at any stage. Prognosis does vary depending on stage at diagnosis.

<strong<=>References
1. American Cancer Society- Cancer Facts and Figures 2008 Exit Disclaimer. Atlanta, GA: American Cancer Society. Retrieved March 13, 2008

2. Malawer MM, Helman LJ, O’Sullivan B. Sarcomas of bone. In: DeVita VT, Hellman S, Rosenberg SA, editors. Cancer: Principles and Practice of Oncology. Vol. 2. 7th ed. Philadelphia: Lippincott Williams and Wilkins, 2007

3. National Cancer Institutes, SEER Program; http://seer.cancer.gov/csr/1975_2012</strong<=>

Ewing Sarcoma (Adult) | Bone Cell, Cartilage Cell

Ewing sarcoma is a type of bone cancer that is diagnosed in children and adolescents, and rarely in adults over 30. It was named for James Ewing, the doctor who first described it, and is part of a group cancers sometimes referred to as Ewing sarcoma family of tumors.

The cells associated with Ewing sarcoma are thought to be a primitive cell type¹ – meaning it hasn’t ‘declared’ itself as a specific type of cell-like bone cell (osteoblast) or cartilage cell(chondrocyte). These primitive cells are found in bone and soft tissue and if this primitive (stem) cell starts to grow at an abnormal rate it forms a cancerous tumor. If that tumor forms in the bone it is Ewing sarcoma of bone. Because these primitive cells are also found in the soft tissue around bones, a tumor of primitive cells outside the bone is called an extraosseous Ewing sarcoma (outside bone). Two other tumors in the Ewing family are neuroectodermal tumor (a brain tumor) and Askin tumor (chest wall sarcoma).

Ewing sarcoma is the second most common bone cancer in kids but it is a rare with only 250 new cases diagnosed each year in the U.S.² The bones most commonly affected are the thigh (femur), lower leg (tibia or fibula), upper arm (humerus), and the pelvis.

SIGNS AND SYMPTOMS OF EWING SARCOMA

Pain – the pain experienced with Ewing sarcoma is typically in the area of the tumor. This is often called local pain.
Swelling – there may be inflammation in the area of a tumor leading to swelling.
Decreased function – pain and swelling can contribute to a limited ability (or willingness) to use the affected limb.
Fracture – the area of the bone where the tumor is located is weaker and more fragile than normal bone so fractures (called pathologic fracture) can occur in this area of the bone tumor.
Fever – a persistent fever with no obvious cause may be present.
Weight loss – unexplained weight loss can indicate a disease process.

CAUSE FOR EWING SARCOMA

Ewing sarcoma is caused by a chromosomal change³ but the cause of the change is not known.

DIAGNOSTIC TESTS FOR EWING SARCOMA

The first test that raises suspicion for Ewing sarcoma is an x-ray. It may show an area in the bone that isn’t formed normally.

Once a bone tumor is suspected it is very important that a patient sees an orthopedic oncologist before further testing or biopsy. Because it is a rare condition, bone cancer is best managed by a specialist who has training and experience in diagnosing and treating extremity sarcomas.

	MRI	An MRI enables the doctors to better see the full extent of the tumor. It is important to know if the tumor is ‘invading’ other tissues as treatment plans (such as surgical options) are being considered.
	Biopsy	A biopsy is necessary to determine the exact type of tumor as well as its grade (aggressiveness). It is important that the biopsy be done by a specialist experienced in appropriate biopsy of extremity tumors. A biopsy done incorrectly may limit surgical options, and in some cases make amputation the only surgical option.
	Bone marrow aspiration	If Ewing sarcoma is suspected a bone marrow aspiration may be done to help with the diagnosis. This is because the types of cells in the bone marrow are similar in type (stem cells) to those that develop Ewing sarcoma so this helps to confirm Ewing sarcoma and with staging.
	Bone scan	A bone scan is one of the tests done to help determine the extent of cancer (staging). This is like an x-ray of your entire skeleton to see if there are any other areas of the tumor.
	PET/CT scan	This test is another that is necessary for staging of cancer. It reveals if the cancer has metastasized to the abdomen, brain, or other areas of the body.

EWING SARCOMA STAGING

Ewing sarcoma is an aggressive tumor so it is automatically considered to be high grade. Knowing the stage is important in determining the best treatment options for understanding prognosis. Ewing sarcoma is described in one of three stages:

	Localized tumor	This is a sarcoma that is only in the area that it was first found. It usually involves the bone and may involve the soft tissues in the area. The diagnostic tests such as the PET/CT or bone scan won’t show areas that the tumor may have spread to such as the lungs or brain.
	Metastatic tumor	This is a sarcoma that has spread to other areas of the body such as the lungs, other bones, or even the bone marrow. This indicates a more aggressive form of cancer.
	Recurrent	This is the term used for Ewing sarcoma that has come back (recurred) after it has been treated. It may come back in the area where it was first found (local recurrence) or may be in another part of the body.

TREATMENT OF EWING SARCOMA

Once the diagnosis of bone cancer has been made and staging of the tumor is completed, treatment is started. Through many years of research, specialists have determined that the most effective course of treatment involves chemotherapy before surgery (neoadjuvant chemotherapy), followed by surgical resection of the tumor, and followed by a course of postoperative chemotherapy (adjuvant chemotherapy).

Chemotherapy – “Chemo” is the use of medications to kill cancer cells. A course of chemotherapy before surgery usually includes multiple weeks of chemotherapy infusions into the bloodstream. This course of chemo is directed at killing the primary Ewing sarcoma and any tumor cells that might not have been detected yet. Another course of chemo is given after surgery to further treat for undetected spread and minimize the chance of recurrence.

Surgery – once the chemotherapy course is completed surgery is necessary to remove the tumor. It is very important that the entire tumor is removed in order to minimize the possibility that it will return; therefore, the surgeon will remove a small amount of normal tissue around the tumor to better assure that no cancerous cells are left. Very careful surgical planning is necessary to accomplish complete removal (resection) of the sarcoma and maintenance of the patient’s best function.

Options can include:

	Resection	Removal of the tumor without “rebuilding” the area that it was removed.
	Resection with reconstruction	– removal of the tumor and “rebuilding” with metal implants and/or bone allografts; soft tissue reconstruction may also be necessary.
	Amputation	Removing the extremity at a level above the tumor.

Radiation therapy – Ewing sarcoma is radiosensitive so radiation is used in some situations to treat Ewing sarcoma. If chemotherapy wasn’t effective in killing the primary tumor radiation is considered after surgery. Or, if the tumor is in a location that it can’t be removed surgically then radiation is utilized with chemo to treat the disease. It is also considered for treatment of recurrent Ewing sarcoma.

There are risks of giving radiation to treat any type of cancer. These include changes to the skin around the radiated area which can have an effect on surgery, and radiation sarcoma which is a cancer that can develop later in life. Therefore, radiation is not the preferred treatment for tumors that able to be removed by surgery.

PROGNOSIS

Prognosis means ‘chance of recovery’ and is often the first question asked after a child has been diagnosed with bone cancer. There are a number of factors that contribute to an individual child’s prognosis:

Tumor site – the location of the tumor and whether there are tumors in more than one bone. Tumors in more than one bone indicate a later stage of the cancer which decreases the long term survival.

Size of the tumor – larger tumors has a worse prognosis.

The presence of metastatic disease – the stage of cancer at the time of diagnosis contributes to prognosis. If the disease has spread to the lungs or other sites the prognosis is not as good.

Response to initial chemotherapy – when the tumor is resected during surgery it is tested to determine how much of the tumor died (indicating that the chemotherapy was effective). The greater the percentage of tumor death the better the prognosis.

Prognosis is better when the tumor is at the end of the bone that it is located in (therefore farther from the body) and there is no metastatic disease (cancer hasn’t spread). Younger children tend to have a better prognosis than young adults. Prognosis of Ewing sarcoma is poor when the tumor is located in a bone closer to the body, or if there is metastatic disease at the time of diagnosis ⁴.

<strong<=>References
1. Tirode F, Laud-Duval K, Prieur A, et al.: Mesenchymal stem cell features of Ewing tumors. Cancer Cell 11 (5): 421-9, 2007
2. Jawad MU, Cheung MC, Min ES, et al.: Ewing sarcoma demonstrates racial disparities in incidence-related and sex-related differences in outcome: an analysis of 1631 cases from the SEER database, 1973-2005. Cancer 115 (15): 3526-36, 2009
3. Bailly RA1, Bosselut R, Zucman J, Cormier F, Delattre O, Roussel M, Thomas G, Ghysdael J.; DNA-binding and transcriptional activation properties of the EWS-FLI-1 fusion protein resulting from the t(11;22) translocation in Ewing sarcoma.; Mol Cell Biol. 1994 May;14(5):3230-41
4. Bacci G, Longhi A, Ferrari S, et al.: Prognostic factors in non-metastatic Ewing’s sarcoma tumor of bone: an analysis of 579 patients treated at a single institution with adjuvant or neoadjuvant chemotherapy between 1972 and 1998. Acta Oncol 45 (4): 469-75, 2006</strong<=>

Chondrosarcoma | Malignant Tumor, Chondrocytes

Chondrosarcoma is a malignant tumor of chondrocytes, the cells that produce cartilage. Chondrocytes are present in all the bones of the skeleton so a chondrosarcoma can arise in any bone but it is most commonly found in the femur (thigh bone), humerus (upper arm bone), tibia (larger bone in the lower leg), the pelvis and the ribs. There are more chondrocytes at the ends of the bones (where the joints are located) so chondrosarcomas are more common at the ends of bones than the middle. As with other bone tumors, it is rare; with approximately 400 new cases diagnosed a year in the U.S. It is more commonly seen in adults aged 40 to 70 years, and slightly more often diagnosed in men. ¹

A chondrosarcoma that develops in a healthy bone is called a primary chondrosarcoma. Those that develop in a benign tumor such as an enchondroma or osteochondroma are called secondary chondrosarcomas.

In addition to a more typical chondrosarcoma, there are sub-types. These include:

	Clear-cell chondrosarcoma	– a lytic lesion in at the ends (epiphysis) of a long bone; the prognosis is a bit better than a chondrosarcoma
	Extraskeletal chondrosarcoma	– this type arises from the soft tissue of the extremities, they are very rare and typically need to be treated more aggressively – so in addition to surgical resection, chemotherapy and radiation are considered.
	Mesenchymal chondrosarcoma	– this type arises in the bone or soft tissue and is more commonly seen in the jaw, spine, scapula, or pelvis; those in bone are typically treated with just surgery while those in the soft tissue may require surgical resection and chemotherapy.
	Dedifferentiated chondrosarcoma	– this type consists of a low-grade cartilage lesion with high-grade sarcoma cells (usually osteosarcoma); it is treated like the higher grade sarcoma so chemotherapy and surgical resection are the most common course of treatment. The probability of lung metastases with this type of chondrosarcoma is 90%² which leads to a poor prognosis.

SIGNS AND SYMPTOMS OF CHONDROSARCOMA

Pain – persistent pain in the area of the lesion is the most common symptom.
Soft tissue mass – with some tumors the may be a soft tissue mass or swelling.
Limited function – pain often results in a person avoiding using the affected extremity.

CAUSES OF CHONDROSARCOMA

There is no known cause of a chondrosarcoma. There are some conditions that do place someone at a higher risk of developing a chondrosarcoma.
These include:

- Ollier’s Disease
- Maffucci Syndrome

<li

- Wilms’ Tumor
- Paget’s Disease
- A disease of childhood that required chemotherapy of radiation therapy

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DIAGNOSING CHONDROSARCOMA

A chondrosarcoma is first suspected when an x-ray is taken and it shows a suspicious lesion in the area of the patient’s complaint. Depending on the aggressiveness (or grade), chondrosarcomas produce different patterns of bony destruction on the image. Radiologists and orthopedic oncologists who are experienced in looking at these x-rays can best evaluate the type of destruction and better determine the next tests needed for getting an accurate diagnosis.

Accurately establishing the tumor type (metastatic or benign) and grade is extremely important in determining the course of treatment.

	CT scan	A CT scan is helpful in providing more detail of bony destruction.
	Bone scan	A Bone scan may be necessary to assess if other areas of the skeleton are affected; it may also be helpful in differentiating between malignant and benign tumors.
	MRI	An MRI can show the extent of the tumor, including if there is an extension into the soft tissue or if nerves or vessels are affected; it is necessary for surgical planning.
	Biopsy	A biopsy is important in order to confirm what is suspected from the imaging studies and to establish the grade (aggressiveness) of the tumor. The surgeon determines the best approach depending on the location of the tumor and if multiple samples of the tumor are necessary.
	PET/CT scan	this test is necessary for the staging of the cancer. It reveals if the cancer has metastasized (spread) to other areas of the body.

CHONDROSARCOMA GRADE AND STAGING

It is important to know how aggressive a tumor is (the grade of the tumor) as well as the stage of the cancer (has it spread to other areas of the body). This information helps the physicians in determining the best approach to treatment, as well as assisting in discussions about prognosis.

Chondrosarcoma Grade – by looking at the tumor tissue obtained by biopsy, a pathologist can determine if the tumor has the tendency to grow quickly and spread. Chondrosarcoma grades are:

Low-grade – less aggressive with less chance of metastasis or recurrence; sometimes difficult to distinguish from an aggressive benign tumor;
Intermediate grade – moderate chance of metastasis and recurrence;
High grade – most aggressive type, growing more rapidly and with higher potential to become metastatic or return.

Chondrosarcoma Stage – stage combines the information from the diagnostic testing to determine the extent or severity of the disease process. The size of the tumor, if it has spread to other areas such as the lungs, brain, or other bones, as well as the grade is all things considered when determining the stage.
Chondrosarcoma staging is from I (one) to III (three) with stage I meaning the tumor is localized (only in the original site) and stage III indicating that the tumor has metastasized to other areas of the body.

TREATMENT OF CHONDROSARCOMA

Surgical excision (removal) of a chondrosarcoma is usually the best choice for treatment. Chemotherapy and radiation have not been shown to be effective in the treatment of most types of chondrosarcoma1. The type of surgery depends on the location of the tumor and if the surgeon will be able to take a layer of normal tissue around the tumor at the time of the excision. This layer of normal tissue is called the “margin” and it is important that there is enough normal tissue to assure the entire tumor is removed without disrupting other structures such as nerves or blood supply.

If the surgeon is not able to remove the tumor and remove an adequate margin of healthy tissue around the tumor, then amputation might be the best approach. In cases where amputation isn’t possible (such as the pelvis or spine) other excision techniques may be attempted but with the knowledge that the resection may leave some disease. In this type of situation, chemotherapy or radiation may be considered to improve a patient’s prognosis.

PROGNOSIS

Prognosis means the ‘chance of survival’ from a specific disease or situation. Prognosis for a person diagnosed with chondrosarcoma is dependent on the grade of that individual’s tumor – those with lower-grade tumors have an excellent prognosis as long as they have undergone appropriate treatment; a person with high grade chondrosarcoma has a high risk that the tumor will be metastatic or return in the area it was originally found ³.

It is extremely important that individuals diagnosed with chondrosarcoma, regardless of the grade, be followed regularly by a medical professional. If a tumor does recur it can be managed early and potentially lead to a better long term result.

<strong<=>References</strong<=>
1. Chow WA: Update on chondrosarcomas. Curr Opin Oncol 19:371–376, 2007.
2. Dickey ID, Rose PS, Fuchs B, Wold LE, Okuno SH, Sim FH, Scully SP. J Bone Joint Surg Am. 2004 Nov;86-A(11):2412-8>
3. Dorfman HD, Czerniak B. Bone Tumors. St Louis, Mo: Mosby; 1998:353-440

Malignant Fibrous Histiosarcoma (Undifferentiated Pleiomorphic Sarcoma) | Bone, Soft Tissue

Malignant Fibrous Histiocytoma is a sarcoma (malignant tumor) that can start in the bone or the soft tissue. MFH is the most common type of soft tissue sarcoma of the extremity while MFH of bone is fairly rare. It occurs more frequently in someone who is in their 50s and is a bit more common in men than women¹.

The origin of the tumor is not known, meaning that the type of cell that this tumor arises from hasn’t been determined. Until 2002 this type of extremity sarcoma was called Malignant Fibrous Histiosarcoma (MFH) but in 2002, the World Health Organization changed the description of this type of tumor, renaming it undifferentiated pleomorphic sarcoma because of the inability to identify a specific cell type² It is still often referred to as MFH.

There have been a number of ‘sub-types’ of MFH described over the past 20 years based on the variety of cell types seen in the tumor tissue. These include:

SIGNS AND SYMPTOMS OF OSTEOSARCOMA

Storiform-Pleomorphic MFH– the majority of MFH diagnosed cases are of this type.
Myxoid MFH – 2nd most common type of MFH.
Giant Cell MFH – 3rd most common type.
Angiomatoid MFH – more often diagnosed in children and adolescents.
Inflammatory MFH – rarest type of MFH.

SIGNS AND SYMPTOMS OF UNDIFFERENTIATED PLEIOMORPHIC SARCOMA/MFH

Pain– pain in the area of the tumor.
Swelling – a soft tissue mass may be present and it could be red and warm to the touch; often, the mass has been growing rapidly.

CAUSE OF UNDIFFERENTIATED PLEIOMORPHIC SARCOMA/MFH

There is no known cause of MFH but other conditions may be related. These include:

Radiation for another malignancy
History of Paget’s disease
History of non-ossifying fibroma
History of fibrous dysplasia
Werner syndrome (soft tissue sarcoma)
Gardner syndrome(soft tissue sarcoma)
Li Fraumeni syndrome(soft tissue sarcoma)
Von Recklinghausen disease (soft tissue sarcoma)

DIAGNOSING UNDIFFERENTIATED PLEIOMORPHIC SARCOMA/MFH

Because MFH is most often a soft tissue sarcoma, an x-ray may not show the tumor. MRI is typically necessary to determine if there is a tumor in the area and the full extent of the tumor.

Once a soft tissue sarcoma is suspected, it is important that a physician with expertise in diagnosis and management of extremity tumors be consulted before any other diagnostic testing is done.

	MRI	An MRI enables the doctors to better see the full extent of the tumor. It is important to know if the tumor is ‘invading’ other tissues as treatment plans (such as surgical options) are being considered.
	CT scan	A CT (CAT) scan can help to show the amount of bone destruction that the lesion is causing.
	Biopsy	A biopsy is necessary to determine the exact type of tumor as well as its grade (aggressiveness). It is important that the biopsy is done by a specialist experienced in appropriate biopsy of extremity tumors. A biopsy done incorrectly may limit surgical options, and in some cases make amputation the only surgical option.
	PET/CT scan	This test is another that is necessary for the staging of the cancer. It reveals if the cancer has metastasized to the abdomen, brain or other areas of the body

GRADING AND STAGING OF UNDIFFERENTIATED PLEIOMORPHIC SARCOMA/MFH

It is important to know how aggressive a sarcoma is (the grade of the sarcoma) as well as the stage of the cancer (has it spread to other areas of the body). This information helps the physicians in determining the best approach to treatment, as well as assisting in discussions about prognosis.

MFH Grade – the grade of the MFH tumor is the most important indicator in prognosis for soft tissue sarcoma³.

	Low grade (G1)	low likelihood of growing and spreading to other areas of the body.
	Intermediate grade (G2)	moderate likelihood of growing and spreading.
	High grade (G3)	most aggressive type so likely to grow and metastasize.

MFH Stage – staging combines the information from the diagnostic testing to determine the extent or severity of the disease process. The size of the tumor, if it has spread to other areas such as the lungs, and the grade are all considered when determining the stage. MFH staging is from I (one) to IV (four) with stage I meaning the tumor is localized (only in the original site) and stage IV indicating that the tumor has metastasized to other areas of the body.

	Stage I	The tumor is low to intermediate grade and has remained local, meaning that it is only at the site where it was originally located.
	Stage II & III	The tumor is higher grade but has not spread to the lymph nodes.
	Stage IV	The tumor has metastasized to lymph nodes and other sites in the body.

TREATMENT OF UNDIFFERENTIATED PLEIOMORPHIC SARCOMA/MFH

Surgery – the goal of treatment is to remove the tumor so it is unable to continue growing or to spread to other areas of the body through the bloodstream or lymph system. The goal is to remove the entire tumor, along with a layer (margin) of normal tissue surrounding the tumor. The reason for removing this normal layer of tissue is to assure that all the cancerous tissue has been removed. In the event that a normal layer cannot be removed amputation may be considered. When the tumor is in an area that adequate removal or amputation isn’t possible, surgery with chemotherapy may be considered. The chemotherapy in this circumstance is to minimize the potential for recurrence or spread that could be possible because the entire tumor could not be removed.

Radiation therapy – this is the use of radiation to kill cancer cells or keep them from growing. It’s not effective in all types of cancer but with soft tissue sarcoma it has been shown to decrease the chance that the tumor will come back in the original site⁴. Whether a course of radiation therapy is recommended before or after surgery is dependent on individual situations and tumor type.

Chemotherapy – “chemo” has limited effectiveness in the treatment of soft tissue sarcoma. As mentioned above, it may be considered when adequate surgical removal isn’t possible. There are more investigational medications and clinical trials becoming available for the treatment of soft tissue sarcoma.

For MFH of bone rather than soft tissue, the treatment approach is similar to that of Osteosarcoma with chemotherapy followed by surgical removal, then chemotherapy after removal.

	Resection	Removal of the tumor without “rebuilding” the area that the tumor was removed from, more common in pelvic tumors than tumors in the extremity
	Resection with reconstruction	Removal of the tumor and “rebuilding” with metal implants and/or bone allografts; soft tissue reconstruction may also be necessary
	+Amputation	Removing the extremity at a level above the tumor

PROGNOSIS OF UNDIFFERENTIATED PLEIOMORPHIC SARCOMA/MFH

Prognosis, or chance of recovery, is determined by the grade of the tumor at the time of diagnosis, as well as the patient’s age, the size of the tumor, and the stage (if there was a metastatic disease at the time of diagnosis). In general, the poorer prognosis is associated with high-grade tumors or in a person with stage III or IV disease. Other factors associated with poorer prognosis are if the patient is older than 60 years old or if the tumor is over 5cm. Low-grade tumors are usually curable by surgery.

References

1. Nasciemento AF, Raut CP; Diagnosis and management of pleomorphic sarcomas (so-called “MFH”) in adults. J Surg Oncol, 2008 Mar15;97(4):330-9

2. World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone. Edited by Fletcher CDM, U. K., Mertens F., Lyon, France, IARC Press, 2002

3. Coindre JM; Grading of soft tissue sarcomas: review and update. Arch Pathol Lab Med. 2006 Oct;130(10):1448-53

4. Barkley, H. T., Jr.; Martin, R. G.; Romsdahl, M. M.; Lindberg, R.; and Zagars, G. K.: Treatment of soft tissue sarcomas by preoperative irradiation and conservative surgical resection. Int J Radiat Oncol Biol Phys, 14(4): 693-9, 1988

5. Pezzi CM, Rawlings MS Jr, Esgro JJ, Pollock RE, Romsdahl MM.; Prognostic factors in 227 patients with malignant fibrous histiocytoma. Cancer. 1992 Apr 15;69(8):2098-103

Soft Tissue Sarcoma (Adult) | Connective Tissue

“Soft tissue” is a general term to describe the muscles, tendons, ligaments, tissue around joints, fat, vessels, and nerves that make up the body – all these are connective tissues. Cancerous tumors can form in any of these connective tissues. Therefore soft tissue sarcomas can develop anywhere in the body but the most common sites are the arms, legs, trunk, head, and neck. There are many types of soft tissue sarcomas; all are named according to the type of cell that they start in (or that is most visible when biopsied tissue is analyzed).

For example, those that are most prevalent in the extremities (arms or legs) include:

	Liposarcoma – from fat cells
	Fibrosarcoma – from cells that produce fibrous tissue.
	Leiomyosarcoma – smooth muscle tumors (for example the smooth muscle found in blood vessels)
	Rhabdomyosarcoma – skeletal muscle tumors (muscles that we can control – like our biceps)
	Angiosarcoma – vascular(blood vessel) tumors
	Peripheral nerve sheath tumor – tumors of the nerve cells
	Ewing sarcoma of soft tissue – (also called extraskeletal Ewing sarcoma)
	Synovial sarcoma – tumors in the tissue that surrounds the joint

Soft tissue sarcomas are rare tumors. For all types of soft tissue sarcoma, the number of new cases per year in the U.S. is ~12,000.¹

CAUSES OF SOFT TISSUE SARCOMA

While there is no known cause of a soft tissue tumor, there are inherited disorders that may place a person at risk for developing a sarcoma. These include:

Retinoblastoma
Neurofibromatosis (von Recklinghausen disease)
Bourneville disease
Familial adenomatous polyposis (FAP)
Li-Fraumeni syndrome
Werner syndrome
Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

In addition, past radiation therapy for cancer may be a risk factor.

SIGNS AND SYMPTOMS OF SOFT TISSUE SARCOMA

For soft tissue sarcoma of the extremity, the most common sign is a lump that can’t be related to some type of injury. They can be painless or may cause severe pain if they are pressing on other structures such as nerves.

DIAGNOSING A SOFT TISSUE SARCOMA

A biopsy is necessary for the diagnosis of a soft tissue sarcoma. The type of biopsy depends on where the tumor is located and an adequate amount of tissue is necessary to accurately diagnose the type of tumor. It is important that the biopsy is done by a specialist with experience in treating extremity sarcomas. A biopsy done incorrectly can affect treatment options for the tumor.

It is important that the biopsy is done by a specialist with experience in treating extremity sarcomas. A biopsy done incorrectly can affect treatment options for the tumor.

Other testing is necessary to determine the size of the tumor and if it has spread to other areas of the body. Testing can include:

	X-ray	An X-ray will see if there is any invasion of the tumor into the bone.
	MRI	An MRI will show the size of the tumor and if it is pressing on other structures; it is necessary for surgical planning. It may be used to show if the tumor has spread to the brain.
	PET/CT scan	A PET/CT scan is used for staging, to see if the tumor has spread to other areas like the abdomen or lungs.

GRADING AND STAGING OF SOFT TISSUE SARCOMA

The grade of a tumor is a sign of how likely it is to spread (metastasize). The grade of a soft tissue sarcoma is based on three characteristics:

How similar all biopsied tissue looks under a microscope – called differentiation.
How fast the cells are dividing (indicates how fast the tumor is growing) – called mitotic count.
How much of the tumor is made up of dying cells – called tumor necrosis.

A grade of 1 through 3 is then assigned based on these three factors. A higher grade means the tumor is more likely to spread.

The stage of a tumor involves assessment of tumor size if it has spread to the lymph nodes or other organs, as well as the tumor’s grade. The stages of soft tissue sarcoma are:

	Stage IA – smaller than 5cm (~ 2 inches) across, has not spread, and is a grade 1 or the grade can’t be determined.
	Stage IB – larger than 5 cm across, has not spread and is a grade 1.
	Stage IIA – smaller than 5 cm across, has not spread and is a grade 2 or 3.
	Stage IIB – larger than 5 cm across, has not spread; and is a grade 2.
	Stage III – larger than 5 cm across, has not spread, and is a grade 3; or, the tumor is of any size and grade and has spread to the lymph nodes.
	Stage IV – the tumor is any size and grade, it has spread to the lymph nodes and/or to other sites like the lungs or brain.

TREATMENT OF SOFT TISSUE SARCOMA

Surgical removal (resection) is the main treatment for soft tissue sarcoma and for some types of soft tissue sarcoma it is the only treatment needed. It is important that the entire tumor is removed along with a ‘layer’ of normal tissue (called the margin).

Reconstructive surgery may be considered after the removal of soft tissue sarcoma in order to restore the appearance and to help with function.

Radiation therapy is often used in addition to surgery to help minimize the chance that the tumor will regrow in the area it was first found (referred to as local recurrence). The decision to have a patient undergo post-operative radiation is typically based on the stage of the cancer.

If removal of the entire tumor along with an adequate margin can’t be accomplished because it would affect function, radiation therapy is almost always considered due to the fact that there is some remaining tumor.

Chemotherapy has shown limited benefit for treatment of soft tissue sarcomas. When a tumor cannot be adequately removed due to the location, a course of chemotherapy (usually in combination with radiation therapy) may be considered. Sometimes this will shrink the tumor to the point that it can be safely removed, although a clean margin may not be possible in this situation.

There are a number of clinical trials to help determine if newer chemotherapy medications might show some benefit in treatment of soft tissue sarcoma. Options for clinical trials should be discussed with the treating oncologist.

PROGNOSIS OF SOFT TISSUE SARCOMA

Prognosis or chance for recovery, from soft tissue sarcoma, is closely related to the stage of the disease as well as the patient’s age. In general, individuals over 60 years old have a poorer prognosis than younger patients. Type of soft tissue sarcoma is also a factor with synovial sarcomas having a poor prognosis than liposarcoma, for example.

In general, with all types of extremity sarcoma included, an analysis of data from the National Cancer Institute Surveillance, Epidemiology, and End Results (SEER) database showed the following 5 – year survival information²:

By grade:

	Grade I – 89%
	Grade II – 80%
	Grade III – 57%

If metastatic:

	No – 70%
	Yes – 14%

By tumor size:

	If less than 5 cm across – 75%
	If greater than 5 cm across – 58%
	If unable to determine size – 11%

It is important to keep in mind that every tumor type is different with regard to prognosis so it is best to discuss prognosis related to a specific tumor with the treating physician.

<strong<=>References</strong<=>
1. American Cancer Society: Cancer Facts and Figures 2015. Atlanta, Ga: American Cancer Society, 2015
2. Jacobs AJ, Michels R, Stein J, Levin AS; Improvement in Overall Survival from Extremity Soft Tissue Sarcoma over Twenty Years/ Sarcoma; vol. 2015, Article ID 279601, 9 pages, 2015

Metastatic Bone Tumor- Metastatic Bone Disease | Cancer Spread

When cancer spreads (metastasizes) there are places in the body that it metastasizes to – lungs, liver, brain, and bones. This spread can occur before someone has been actually diagnosed with cancer or it can occur years after treatment if the cancer cells are still in the body and the cancer returns. When the spread is to the bone, the tumor in the bone is called a metastatic bone tumor, and treating physicians may describe this as metastatic bone disease as well as “bone mets”. There are some types of cancers that are more likely to metastasize to the bone.

These include¹:

Breast
Lung
Thyroid
Kidney
Prostate

There are blood cancers that also cause bone lesions. These blood cancers include – multiple myeloma, and lymphomas.

The most common sites of bone metastases are¹:

Spine
Pelvis
Ribs
Skull
Upper arm (humerus)
Thighbone (femur)
Shinbone (tibia)

SYMPTOMS OF METASTATIC BONE TUMORS

Metastatic bone tumors weaken the bone in the area where they are located. They do this by either destroying the bone (osteolytic tumors) or by causing abnormal bone to form (osteoblastic tumors). These weak areas in the bone are quite painful and are prone to fracture. If a fracture does develop in the area of the “bone met” it is referred to as a pathologic fracture. Bone lesions in the vertebral body of the spine can fracture as well, this type of pathological fracture is called a compression fracture because the vertebra collapses (or compresses).

The tumors develop in the part of the bone marrow that produces red blood cells. Because the metastatic lesions can decrease red blood cell production, a patient with a metastatic bone disease can become anemic. ²

DIAGNOSING METASTATIC BONE TUMORS

When cancer is first diagnosed, a patient will undergo PET/CT scans, MRIs, and other tests specific to the type of cancer. Metastatic bone lesions may be found during this staging process.

An X-ray of the area of the patient’s pain will show a destructive area in the bone.

A CT scan may be requested to evaluate the extent of the bone lesion and if there are any fractures that the x-ray doesn’t show.

A bone scan will likely be ordered to determine if there are other bones affected that haven’t started causing pain yet.

An MRI may be requested to see if there is an expansion of the lesion into the soft tissue around the tumor.

A biopsy of the lesion will be done to determine if the tumor is a metastatic lesion from the original type of cancer or if it is from a new type of cancer.

TREATMENT OF METASTATIC BONE TUMORS

Because metastatic bone tumors are both painful, and place someone at risk of a fracture, treatment focuses on minimizing the pain and addressing the chance of a fracture. In some situations managing pain with medications and activity limitation is appropriate. When there is a fracture already in the area, or if there is a high likelihood of a fracture, surgery may be recommended along with pain management.

Surgery for lesions in the extremities usually involves putting a metal plate on the bone where the tumor is located, which stabilizes the bone. If a lesion is in the vertebral body, a procedure where bone cement is injected into the lesion (kyphoplasty or vertebroplasty) is done. This minimizes the possibility that the vertebral body will collapse.

Radiation therapy has been effective in helping to control the pain associated with metastatic bone tumors. A short course of radiation may be prescribed, with the radiation directed at the lesion.³ There are medications called bisphosphonates that can help to prevent bone damage caused by metastatic tumors. Bisphosphonates appear to work by decreasing activity of the bone destroying cells (osteoclasts) which slows bone destruction. In addition, patients who take these medications describe some pain relief while taking the medication.⁴

<strong<=>References</strong<=>
1. Vigorita, Vincent (2007). Orthopaedic Pathology. Lippincott Williams & Wilkins. p. 52
2. Coleman RE (October 2006). “Clinical features of metastatic bone disease and risk of skeletal morbidity”. Clin. Cancer Res. 12 (20 Pt 2): 6243s–9s
3. Palliative Radiotherapy for Bone Metastases: An ASTRO Evidence-Based Guideline (2011)
4. Van Poznak CH, Temin S, Yee GC, et al. American Society of Clinical Oncology executive summary of the clinical practice guideline update on the role of bone-modifying agents in metastatic breast cancer. J Clin Oncol. 2011;29(9):1221-7

TYPES OF EXTREMITY TUMORS | MALIGNANT EXTREMITY TUMORS IN CHILDREN:

Osteosarcoma (Children) |Cancer of Bone cells

Osteo is Latin for bone, and sarcoma means a malignancy (cancer) of the connective tissue so Osteosarcoma is a cancer of bone cells. There are many types of cancer that can form in bones but osteosarcoma (also referred to as OGS) is the most common type that occurs in children and adolescents, coinciding with time in a child’s life when they are going through a growth spurt.¹ It is a rare cancer, with less than 500 new cases diagnosed in the U.S. each year. OGS most commonly affects the larger bones of the upper arm (humerus), thigh (femur) and lower leg (tibia) but it can affect all other bones of the skeleton.

SIGNS AND SYMPTOMS OF OSTEOSARCOMA

Pain – the pain a child experiences is typically in the area of the tumor and is referred to as local pain.
Swelling – there may be inflammation in the area of a tumor leading to swelling.
Decreased function – pain and swelling lead to a child “favoring” the affected extremity so he or she may not want to put weight on it or use it in any way.
Fracture – the area of the bone where the tumor is located is weaker and more fragile than normal bone so fractures (called pathologic fracture) can occur in this area of the bone tumor.

CAUSE OF OSTEOSARCOMA

In most instances there is no direct cause of osteosarcoma. There are some conditions that place someone at a higher risk of developing osteosarcoma. These include:

Previous treatment using radiation therapy.
Hereditary conditions:
Hereditary retinoblastoma
Paget disease
Diamond-Blackfan anemia
Li-Fraumeni syndrome
Rothmund-Thomson syndrome
Bloom syndrome
Werner syndrome

DIAGNOSTIC TESTS FOR OSTEOSARCOMA

The first test that raises suspicion for osteosarcoma is an x-ray. When there is an osteosarcoma present the x-ray often shows an area with a ‘sunburst’ type pattern in the region where a child is experiencing the pain. This pattern is caused by the cancerous bone-forming cells, producing bone in a non-functional manner. Once a bone tumor is suspected it is very important that an orthopedic oncologist is consulted before further testing or biopsy.

Because this is a rare condition, it is best managed by specialists who have training and experience in diagnosing and treating extremity sarcomas.

	MRI	An MRI enables the doctors to better see the full extent of the tumor. It’s important to know if the tumor is ‘invading’ other tissues as treatment plans (such as surgical options) are being considered.
	Biopsy	A biopsy is necessary to determine the exact type of tumor and its grade (aggressiveness). The biopsy should be done by a specialist experienced in appropriate biopsy of extremity tumors because they are well-versed in biopsy techniques. A biopsy done incorrectly may limit surgical options, and in some cases make amputation the only surgical option. Tumor grades include: Low-grade Intermediate grade High grade
	Bone scan	A bone scan is one of the tests done to help determine the extent of the cancer (staging). This is like an x-ray of your entire skeleton to see if there are any other areas of tumor.
	PET/CT scan	This test is another that is necessary for the staging of the cancer. It reveals if the cancer has metastasized to the abdomen, brain or other areas of the body

OSTEOSARCOMA GRADE AND STAGING

Osteosarcoma Grade – when a pathologist looks at the tumor tissue under a microscope they can determine if the tumor has the tendency to grow quickly and spread. Osteosarcoma grades are:

	Low grade	less likely to spread (metastasize)
	Intermediate grade	moderately aggressive so may spread to other areas
	High grade	more aggressive so likely to metastasize

Osteosarcoma Stage – stage combines the information from the diagnostic testing to determine the extent or severity of the disease process. The size of the tumor, if it has spread to other area such as the lungs, brain, or other bones, as well as the grade are all considered when determining the stage. OGS staging is from I (one) to III (three) with stage I meaning the tumor is localized (only in the original site) and stage III indicating that the tumor has metastasized to other areas of the body.

TREATMENT OF OSTEOSARCOMA

Chemotherapy – “Chemo” is the use of medications to kill cancer cells and for treatment of bone cancer it is given systemically, meaning the medications enter the bloodstream and reach the cancer cells.

Options can include:

	Resection	Removal of the tumor without “rebuilding” the area that the tumor was removed from, more common in pelvic tumors than tumors in the extremity
	Resection with reconstruction	Removal of the tumor and “rebuilding” with metal implants and/or bone allografts; soft tissue reconstruction may also be necessary
	Amputation	Removing the extremity at a level above the tumor

PROGNOSIS

“What’s the chance of recovery?”……This is one of the first questions that we asked when faced with a challenging diagnosis. This is true regardless of age, but especially when kids are diagnosed with any type of cancer.

Prognosis means ‘chance of recovery’ and there are factors that contribute to the prognosis of osteosarcoma.

Tumor site – the location of the tumor and whether there are tumors in more than one bone. Tumors in a location further from the center of the body have a better prognosis than those closer to the center of the body. Tumors in more than one bone indicate there has been metastasis or a more aggressive form of osteosarcoma.

Presence of metastatic disease – the stage of cancer at the time of diagnosis contributes to prognosis. If the disease has spread to the lungs or other sites the prognosis it is not as good.

Size of the tumor – larger tumors has a worse prognosis.

Surgical resection – if the tumor is resected and the surgeon is able to remove the tumor with a “layer” of non-affected tissue around it there is less chance that cancer is still in the area.

In general, the long-term survival of kids diagnosed with osteosarcoma is ~70%¹. It’s important to keep in mind that this estimate is determined by examining survival information for all kids diagnosed with osteosarcoma in a certain time frame, regardless of the prognostic factors described above. There are reports of survival from 80 – 92%^{2, 3} in patients grouped by stage of disease when first diagnosed. It is important to discuss the prognosis with your child’s doctor to be sure you understand the stage of the disease and how it relates to treatment and diagnosis.

<strong<=>References
1. Mirabello L, Troisi RJ, Savage SA: Osteosarcoma incidence and survival rates from 1973 to 2004: data from the Surveillance, Epidemiology, and End Results Program. Cancer 115 (7): 1531-43, 200

2.Bacci G, Balladelli A, Palmerini E, Alberghini M, Pollastri P, Galletti S, Mercuri M, Picci P., Neoadjuvant chemotherapy for osteosarcoma of the extremities in preadolescent patients: the Rizzoli Institute experience. J Pediatr Hematol Oncol. 2008 Dec;30(12):908-127

3. Wilkins RM, Cullen JW, Camozzi AB, Jamroz BA, Odom L;Improved survival in primary nonmetastatic pediatric osteosarcoma of the extremity. Clin Orthop Relat Res. 2005 Sep;438:128-36</strong<=>

Chronic | Long-Term Sequelae of Extremity Trauma

Nonunion of a fracture can be a difficult and frustrating problem. A number of factors can contribute to the development of a nonunion.

	Smokers experience a 12-15% higher rate of nonunion than nonsmokers. In addition, the healing time for a fracture in a smoker is about 6 weeks longer than a non-smoker.¹
	Diabetic patients can experience a higher nonunion rate as well as an increased time to fracture healing compared to non-diabetic patients. This is due to circulation problems, neuropathy and the nutritional compromise that a diabetic experiences.²
	Soft tissue damage at the fracture site can also contribute to nonunion. Open fractures (when the broken bone penetrates the skin) have a higher rate of nonunion than closed, and open comminuted (multiple fractures of the bone) fractures have the highest rate of nonunion.³

TREATMENT OF CHRONIC PROBLEMS RELATED TO EXTREMITY TRAUMA

	Hardware revision – where the orthopedic implants (such as plates, screws, or rods) used to treat the fracture and removed, and new implants are utilized to correct the problem.
	Bone osteogenesis – for conditions where there is a loss of bone in the area (either due to surgical removal or poor bone formation after initial treatment) an external fixator designed to take advantage of a bone’s ability to form more bone is used; the frame is also called a Taylor Spatial Frame or Ilizarov frame.
	Osteotomy – this involves the removal of a piece of a bone in order to change the alignment.
	Vascularized bone flap – bones have a very good blood supply so surgeons take advantage of this characteristic in vascularized bone flap procedures where a small section of a bone is removed and moved to the area of a nonunion or where a significant piece of bone has been removed.
	Allograft reconstruction – a ‘tissue bank’ is an organization that receives donations of human bodies and processes the body for research or for medical use. An allograft bone is one that is received from a tissue bank after it has been appropriately processed. Allograft tissue is used quite commonly in orthopedic surgery. An allograft reconstruction involves the use of allograft bone to fill a gap where the bone was removed. Plates and screws are utilized to hold the allograft in place.
	Amputation– there is always the possibility that amputation is the best option for a patient. If a patient’s function will be better with an amputation, or if surgery to treat a chronic extremity problem would be dangerous for the patient, then amputation may be the best choice for treatment.

Ewing Sarcoma (Children) |Bone Cancer

Ewing sarcoma is a type of bone cancer that is diagnosed in children and adolescents, and rarely in adults over 30. It was named for James Ewing, the doctor who first described it, and is part of group cancer sometimes referred to as Ewing sarcoma family of tumors.

SIGNS AND SYMPTOMS OF EWING SARCOMA

Pain – the pain experienced with a Ewing sarcoma is typically in the area of the tumor. This is often called local pain.
Swelling – there may be inflammation in the area of a tumor leading to swelling.
Decreased function – pain and swelling can contribute to a limited ability (or willingness) to use the affected extremity.
Fracture – the area of the bone where the tumor is located is weaker and more fragile than normal bone so fractures (called pathologic fracture) can occur in this area of the bone tumor.
Fever – a persistent fever with no obvious cause may be present.
Weight loss – unexplained weight loss can indicate a disease process.

CAUSE FOR EWING SARCOMA

Ewing sarcoma is caused by a chromosomal change but the cause of the change is not known. Therefore it is considered a genetic cause but not one that is inherited or passed along from parents to kids³.

DIAGNOSTIC TESTS FOR EWING SARCOMA

The first test that raises suspicion for Ewing sarcoma is an x-ray. It may show an area in the bone that isn’t formed normally.

	MRI	An MRI enables the doctors to better see the full extent of the tumor. It is important to know if the tumor is ‘invading’ other tissues as treatment plans (such as surgical options) are being considered.
	Biopsy	A biopsy is necessary to determine the exact type of tumor as well as its grade (aggressiveness). It is important that the biopsy be done by a specialist experienced in appropriate biopsy of extremity tumors. A biopsy done incorrectly may limit surgical options, and in some cases make amputation the only surgical option.
	Bone marrow aspiration	If a Ewing sarcoma is suspected a bone marrow aspiration may be done to help with the diagnosis. This is because the types of cells in the bone marrow are similar in type (stem cells) to those that develop Ewing sarcoma so this helps to confirm Ewing sarcoma and with staging.
	Bone scan	A bone scan is one of the tests done to help determine the extent of the cancer (staging). This is like an x-ray of your entire skeleton to see if there are any other areas of tumor.
	PET/CT scan	This test is another that is necessary for the staging of the cancer. It reveals if the cancer has metastasized to the abdomen, brain, or other areas of the body.

EWING SARCOMA STAGING

Ewing sarcoma is an aggressive tumor so it is automatically considered a high-grade tumor. Knowing the stage is important in determining the best treatment options for a child as well as for understanding prognosis. Ewing sarcoma is described in one of three stages:

	Localized tumor	This is a sarcoma that is only in the area that it was first found. It usually involves the bone and may involve the soft tissues in the area. The diagnostic tests such as the PET/CT or bone scan won’t show areas that the tumor may have spread to such as the lungs or brain.
	Metastatic tumor	This is a sarcoma that has spread to other areas of the body such as the lungs, other bones, or even the bone marrow. This indicates a more aggressive form of cancer.
	Recurrent	This is the term used for Ewing sarcoma that has come back (recurred) after it has been treated. It may come back in the area where it was first found (local recurrence) or may be in another part of the body.

TREATMENT OF EWING SARCOMA

Options can include:

	Resection	Removal of the tumor without “rebuilding” the area that it was removed.
	Resection with reconstruction	– removal of the tumor and “rebuilding” with metal implants and/or bone allografts; soft tissue reconstruction may also be necessary.
	Amputation	Removing the extremity at a level above the tumor.

PROGNOSIS

Size of the tumor – larger tumors has a worse prognosis.

Presence of metastatic disease – the stage of cancer at the time of diagnosis contributes to prognosis. If the disease has spread to the lungs or other sites the prognosis is not as good.

Response to initial chemotherapy – when the tumor is resected during surgery it is tested to determine how much of the tumor died (indicating that the chemotherapy was effective). The greater the percentage of tumor death the better the prognosis.

Prognosis is better when the tumor is at the end of the bone that it is located in (therefore farther from the body) and there is no metastatic disease (cancer hasn’t spread). Younger children tend to have better prognosis than young adults. Prognosis of Ewing sarcoma is poor when the tumor is located in a bone closer to the body, or if there is metastatic disease at the time of diagnosis ⁴.

TYPES OF BENIGN TUMORS | BONE, SOFT TISSUE:

Benign extremity tumors rarely metastasize and are not cancerous. They are usually described according to their aggressiveness. Some can be extremely aggressive, growing rapidly and ‘invading’ areas around them. Others can be inactive but cause pain or other problems due to their location. Benign tumors also tend to recur so it is advised to follow-up regularly with a healthcare professional to monitor benign tumors.

Giant Cell Tumor| Benign Bone Tumor

Giant cell tumor is one of the more common benign bone tumors, occurring in adults ages 20 – 40 years. While a giant cell tumor can occur in any bone, it is most commonly located in the (metaphysis) or at the end (epiphysis) of the thigh bone (femur) or the shin bone (tibia).

Giant cell tumors are named for how the biopsied tissue looks under a microscope. They are made up of a combination of cell types – large bone destroying cells (like osteoclasts) and a type of white blood cell (histiocyte).¹ Giant cell tumors are benign (meaning they aren’t cancerous) but they are very aggressive, destroying healthy bone and joints. There are rare cases that the tumor spreads to the lungs. The lesions in the lungs are usually benign as well.¹

CAUSE

There is no known cause of giant cell tumor and it is not associated with inherited disorders like some cancers.

SIGNS AND SYMPTOMS OF GIANT CELL TUMOR

Patients with giant cell tumors usually describe a deep, persistent pain in the area of the tumor that isn’t related to an injury. The pain progressively worsens and may result in limited function. Sometimes there is swelling of an effected area, especially if the joint line has been affected. Because giant cell tumors destroy bone, there is a risk for pathologic fracture in the area of the tumor.

DIAGNOSING

An x-ray is the first test that will show a tumor. Giant cell tumors have a recognizable pattern on x-ray – a large, almost transparent area in the bone where the tumor has destroyed bone cells. The bone may look like it’s expanding in the area of the tumor.

An MRI may be done to determine if the tumor is extending into the soft tissue around the area or to assess the extent of bony destruction.

A chest x-ray or CT scan is usually done to see if there has been any spread of the tumor to the lungs.

TREATMENT

Surgery is the best treatment for a giant cell tumor. During surgery the tumor is curetted (scooped out) and then space is filled with a ‘bone void filler’. The filler may be bone graft material like allograft (bone bank tissue), autograft (the patient’s own bone), bone cement, or a combination of these things. There is some evidence that the use of bone cement decreases the chance of the tumor returning (local recurrence) because of the heat that the cement gives off when it is mixed and placed in the area.

Another approach to surgery is to curette the tumor then pour liquid nitrogen, hydrogen peroxide, or phenol in the area, followed by filling it with bone cement. These substances kill tumors in the area so their use may decrease the likelihood of local recurrence.

In some situations, the tumor has caused so much bony destruction that a larger reconstructive surgery is necessary. The approach is determined by the location of the tumor and the amount of destruction, sometimes requiring joint replacement surgery or plating of the affected bone.²

PROGNOSIS OF GIANT CELL TUMOR

While surgical removal of a giant cell tumor is considered curative and people can return to full activity, it is important to be diligent about follow-up. There is a potential for the tumor to return so regular (yearly) x-rays are recommended to assure the tumor isn’t recurring.

<strong<=>References
1. Werner, M. (2006). Giant cell tumour of bone: morphological, biological and histogenetical aspects. Springer-Verlag , 30, 484-48
2. Mendenhall W, Zlotecki R, Scarborough M, Gibbs C, Mendenhall N (2006). “Giant cell tumor of bone”. Am J Clin Oncol 29 (1): 96–9 </strong<=>

Osteochondroma | Benign Bone Tumor in Kids

Osteochondroma is a common benign (non – cancerous) bone tumor in kids. It develops near the growth plate of long bones (thigh, shin, and upper arm) usually as a child is going through a growth spurt. When a child stops growing the tumor stops growing too. ¹

Osteochondroma can be a single tumor (solitary osteochondroma) or a more aggressive type that is due to a hereditary condition, multiple ostoechondromatosis. Multiple osteochondromatosis can cause abnormal growth of bones like bowed legs, knock-knees, or short stature. There is a very small risk (1%) that a solitary lesion will become malignant, and a 10% chance that multiple osteochondromatosis will become malignant.² If these do transition to a malignant tumor they become chondrosarcomas because they are tumors that are made up of cartilage cells.

CAUSE OF OSTEOCHONDROMA

There is no known cause of solitary (single lesion) osteochondroma. Multiple osteochondromatosis is an inherited condition meaning at least one of the child’s parents had the disease. There has been research showing that a mutation in two genes is associated with the development of both types of osteochondroma.³

SYMPTOMS OF OSTEOCHONDROMA

Solitary osteochondromas don’t usually cause pain unless they are irritating soft tissues such as tendons or ligaments. They may cause numbness or tingling if they are irritating a nerve, or cause a change in blood flow if they are near a blood vessel. Usually they are found when a child has an x-ray for an unrelated injury (an incidental finding).

DIAGNOSIS OF OSTEOCHONDROMA

X-ray, typically for an unrelated reason, is usually the first test that shows an osteochondroma. The tumor may appear as a flat outgrowth near the growth plate, or it may appear to have a ‘stalk’ attaching it to the bone near the growth plate.

A CT scan or MRI may be requested in order to see the extent of the lesion and if it is pressing on other structures.

A biopsy may be done to rule out a cancerous process.

TREATMENT OF OSTEOCHONDROMA

Osteochondromas stop growing when a child has stopped growing so it’s highly likely that nothing will need to be done. It’s o.k. to just watch the tumor if it’s not pressing on a nerve or blood vessel, or in an area that affects the child’s function. Medications may be prescribed if a child is having some pain. If the tumor is painful or causing problems by irritating other structures like nerves, tendons, or blood vessels, it can be surgically removed (excised).

It’s important to follow-up with a physician on a regular basis to monitor any growth of the tumor or if there are significant changes in symptoms.

References
1. Reijnders, Christianne; Liesbeth Hameetman; Judith VMG Bovée (September 2008). “Bone: Osteochondroma”. Atlas of Genetics and Cytogenetics in Oncology and Haematologyde.
2. Andrea, CE; Reijnders CM; Kroon HM; De Jong D; Hogendoorn PC; Szuhai K; Bovée JV (1 March 2012). “Secondary peripheral chondrosarcoma evolving from osteochondroma as a result of outgrowth of cells with functional EXT”. Oncogene 31 (9): 1095–1104.
3. Zhang, F; Liang J, Guo X, Zhang Y, Wen Y, Li Q, Zhang Z, Ma W, Dai L, Liu X, Yang L, Wang J. (29 August 2013). “Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.”. PLOS ONE 8 (8).

Enchondroma | Cartilage Cells

An enchondroma is a benign (non-cancerous) tumor that is formed from cartilage cells that line the inside of the bones. These cells would normally form bone but for some unidentified reason they don’t, instead, they become a small tumor. Enchondromas are one of the most common benign bone tumors, and usually occur in the small bones of the hands and feet but can affect other bones like the thigh bone (femur), the upper arm (humerus) and shin bone (tibia).

Enchondromas are active in kids, meaning that they are growing largely due to the fact that kids are growing. They are usually diagnosed from age 10 – 20 but they remain present in adulthood and are described as “dormant” or “burned out” because they aren’t actively growing.

Enchondromas can become cancerous but this is very rare. If they do transform into a cancerous tumor it is to a chondrosarcoma. For this reason, treating physicians recommend continued watching of an enchondroma as an important part of the treatment.

CAUSE OF ENCHONDROMA

The reason an enchondroma forms is not known. People with Ollier’s disease and Maffucci’s syndrome may develop many enchondroma.

SYMPTOMS OF ENCHONDROMA

Enchondromas often don’t cause any pain. They may result in swelling or enlargement of the affected bone which can be visible in the case of the hand or foot bones. They can become painful if the tumor is large or if there is a fracture in the affected bone. In syndromes where multiple enchondromas develop (Ollier’s disease or Maffucci’s syndrome) the bony deformities are usually pretty severe.

DIAGNOSING AN ENCHONDROMA

Because they aren’t usually painful, enchondromas are often found during a routine office visit to a physician. A patient may mention, or a physician may notice, swelling of the affected area. An x-ray will usually show an elongated, ‘popcorn’ shaped area in the mid-portion of the bone; sometimes there is a black area indicating a lytic process.

A good medical history is important to help determine if a more serious disease process is occurring. If a patient has night pain or pain at rest it could raise suspicion for chondrosarcoma.

A biopsy is important to confirm the diagnosis of an enchondroma. Enchondromas and chondrosarcomas develop from the same type of cell so it’s necessary to be certain the tumor is not a low-grade chondrosarcoma.

TREATMENT OF AN ENCHONDROMA

Usually enchondromas can be watched, not needing any treatment. Careful monitoring with regular x-rays is recommended to be sure a more aggressive process isn’t occurring. The treating physician may recommend surgery if there is a fracture in the area of the enchondroma or if the bone looks weakened to the point it will eventually fracture. The surgery will include curetting (scooping out) the tumor and filling the area with bone graft material and/or bone cement. There is a very small chance (~6%) ¹ that the tumor will return (recur) so regular follow-up is recommended.

In cases where the biopsy tissue has the appearance of enchondroma and low-grade chondrosarcoma, the treating physicians may recommend treatment as if the tumor is a chondrosarcoma. This is a situation that should be discussed at length with a patient prior to deciding on a treatment course.

References

1. Verdegaal S; Brouwers H, van Zwet E, et al; Low-Grad Chondrosarcoma of Long Bones Treated with Intralesional Curettage Followed by Application of Phenol, Ethanol, and Bone-Grafting; JBJS Am; 2012:94[13]:1201-1207

Fibrous Dysplasia | Fibrous Bone Formation

Fibrous dysplasia is an uncommon condition in which fibrous bone forms within a normal bone. Fibrous dysplasia is not cancer but the areas of the bone where the fibrous tissue forms have a tumor-like appearance, so fibrous dysplasia are often described as a benign bone tumor.

The condition is usually diagnosed in childhood, but it is a ‘chronic’ condition so it continues into adulthood and may be diagnosed in adulthood. Fibrous dysplasia can affect more than one bone with the most common sites being in the long bones of the arms and legs, as well as the pelvis, ribs, and skull.

As mentioned, fibrous dysplasia is not cancer but as with other benign bone tumors there is a very slight (less than 1%) chance it will become cancerous.¹ Therefore, once diagnosed, it is important to have regular follow-up visits with an orthopedic surgeon with expertise in bone tumors to assure the condition doesn’t transform into a cancerous process.

CAUSES OF FIBROUS DYSPLASIA

Fibrous Dysplasia is caused by a gene mutation. This mutation “tells” cells to produce fibrous tissue instead of bone. It is not a hereditary condition so it is not passed to children from their parents but it can be associated with other syndromes such as McCune-Albright syndrome and neurofibromatosis II.¹

SIGNS AND SYMPTOMS OF FIBROUS

Dysplasia Fibrous dysplasia can cause pain in the bone where the abnormal tissue is growing; this growth causes the bone to expand which gives the appearance of swelling in the area. The abnormal growth and expansion may result in deformities of the affected bones. Because the fibrous areas are weaker than normal bone, there is a risk of bone-breaking (fracture) in the area of abnormal bone. This can also be a source of pain. Pain and bone deformity often have an impact on how someone functions. There may be a reluctance to use the affected extremity or a noticeable limp if the leg is affected. Fibrous dysplasia can affect the glands that produce hormones.

Symptoms that may develop in this situation include:

Early puberty
Anxiety and weight loss (if the thyroid is affected)
Weight gain (if the adrenals are affected)
High blood calcium levels (if the parathyroids are affected)
Pigmented skin lesions (‘café-au-laut’ spots)

DIAGNOSING FIBROUS DYSPLASIA

An x-ray is usually the first test when a person describes symptoms of extremity pain or deformity. On an x-ray, the abnormal fibrous areas look like ground glass and the bone may appear to be expanding. The x-ray may also show a bowing deformity of the affected bone. One of the most obvious signs, when fibrous dysplasia affects the upper thigh bone (near the hip), is a shepherd’s crook deformity where the bone is bowed in the shape of a shepherd’s crook (cane).

A CT (CAT) scan may be obtained if the area has fractured. This will better show the extent of the fracture and aid in the decision of the management of the fracture. It can also help in assessing the amount of bone deformity.

A bone scan can detect other areas of the skeleton that might be affected by this condition.

If the x-ray shows areas of bone destruction in addition to the ground glass appearance there may be a concern that the area has become cancerous. If this is the case, other tests will be requested to assess for this possibility.

These include:

Biopsy – to analyze the cells and determine if there is a cancerous process
MRI – if a cancerous process is confirmed an MRI is used to determine if it has spread to the surrounding soft tissues as well as other areas of the body

TREATMENT OF FIBROUS DYSPLASIA

There is no cure for fibrous dysplasia; rather, it is a condition that is often managed by the symptoms a person is experiencing. If there are no symptoms then periodic x-rays to monitor the abnormal bone may be all that’s recommended.

Medications
Osteoporosis medications that help strengthen bones may be used for fibrous dysplasia. In addition to strengthening the bone, they can have some affect in helping to relieve the pain associated with the condition.² Pain medications may be prescribed if the pain is not responding to over-the-counter medications. These are usually for short-term management of periods of increased pain.

Surgery
Surgery is often recommended if the bone has fractured or if a more conservative approach like bracing or casting won’t be effective. Surgery may be considered to correct a deformity that is significantly affecting someone’s function. Regular follow-up is often recommended to assure no cancerous process is occurring. Management by a specialist with knowledge of extremity tumors is best as they have expertise in recognizing abnormal changes in benign bone or soft tissue lesions.

Regular follow-up is often recommended to assure no cancerous process is occurring.

Management by a specialist with knowledge of extremity tumors is best as they have expertise in recognizing abnormal changes in the benign bone or soft tissue lesions.

References
1. Leet AI, Collins MT; Current approach to fibrous dysplasia of bone and McCune-Albright syndrome; J Child Orthop. 2007 Mar; 1(1): 3–17
2. Chapurlat R, Delmas PD, Liens D, Meunier PJ Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. J Bone Miner Res (2002) 10:1746–1752
3. National Institutes of Health Osteoporosis and Related Bone Diseases ~ National Resource Center; January 2012

Unicameral Bone Cysts |Simple Bone Cysts

Unicameral bone cysts (UBCs), or simple bone cysts, are benign lesions that are more commonly found in children and adolescents. They are fluid-filled and cause destruction of the bone they are located within. While UBCs can occur in any bone, they are usually found in the upper arm bone near the shoulder joint or in the thigh bone near the hip. UBCs are considered active if they are located within 5 cm of the growth plate and latent if located more than 5 cm from the growth plate. Active unicameral bone cysts can continue to grow and affect the entire bone shaft (length of the bone) if left untreated. Latent cysts do not continue to grow or expand into the bone.

CAUSE OF UNICAMERAL BONE CYSTS

The cause of unicameral bone cysts is not known.

DIAGNOSING UNICAMERAL BONE CYSTS

Unless there is a fracture in the area of the cyst, unicameral bone cysts don’t usually cause symptoms so they are often found incidentally (as a result of looking into some other problem). On an x-ray they have a transparent appearance with a shell around the lesion.

CT scan or MRI scans may be useful in determining the extent of the lesion and whether it has invaded the growth plate.

TREATMENT OF UNICAMERAL BONE CYSTS

Unicameral bone cysts don’t always require treatment, instead, a process of “watchful waiting” is often recommended. This involves regular x-rays of the area as long as there are no symptoms. Latent UBCs will typically heal without intervention provided there is no fracture in the area.

Because active UBCs are more likely to progress and cause destruction of the bone, the treatment recommendation may be surgical curettage (scooping out) followed by filling the area with bone cement or bone graft material. If there is a fracture, then the lesion is curetted, filled, and the bone stabilized so the fracture will heal.

LONG-TERM OUTLOOK

Unicameral bone cysts will often resolve without treatment. If they do require treatment it is unlikely that they will recur. A process of regular monitoring of a cyst during childhood and adolescence will help to assure the lesion has healed without consequence.

Reference
Kadhim M, Thacker M, Kadhim A, Holmes L; Treatment of unicameral bone cyst: systematic review and meta analysis; .J Child Orthop. 2014 Mar; 8(2): 171–191.

Lipoma | Begnin Soft Tissue Tumor

A lipoma is the most common benign tumor soft tissue tumor. It is composed of fat cells and is usually a large, soft mass just below the skin. Lipomas can occur anywhere on the body but are most often located on the arms and legs, back, abdomen, and neck. The cause of lipomas is unknown but they do tend to be common among family members so there may be genetic factors associated with their occurrence.

While lipomas can occur at any age, there is an increased incidence in 40 – 60-year-olds. This could be due to the fact that lipomas grow very slowly so they don’t grow to the point they are noticed until middle age. Individuals with disorders such as adiposis dolorosa, Cowden syndrome and Gardner’s syndrome have an increased probability of developing lipomas.

Lipomas rarely cause any symptoms and are typically ignored unless they grow to a size that they are bothersome or too visible. Occasionally they will press on nearby nerves which can cause pain.

Treatment for a lipoma is surgical excision (removal). Once removed, it is very uncommon for it to recur (return) in the area where it was removed.

Desmoid tumors | Fibroblast Cells, Connective Tissue

Desmoid tumors arise from the fibroblast cells in the connective tissues and connective tissue is found throughout the body – supporting internal organs, covering vital organs, and making up tendons and ligaments. Because of this, desmoid tumors can develop almost anywhere in the body but are most common in the abdomen or in the arms and legs (extra-abdominal desmoids).

Desmoid tumors are benign, meaning they are not cancerous. However, they can be very aggressive and the condition is often referred to as “aggressive fibromatosis”. An aggressive tumor is one that continues to grow and be invasive to surrounding tissues, causing life-threatening problems if they compress vital organs or blood vessels. Because of their aggressive characteristics, some treatment centers refer to desmoid tumors as a “malignant disease” but this is just describing their tendency to recur and to grow into other structures, desmoids don’t metastasize (spread to other organs) like true malignant tumors.

Desmoid tumors are very rare, with only 900 new cases diagnosed in the U.S. each year. These tumors occur more frequently in women than men (a 2:1 ratio) and occur more often in people aged 15 – 60.¹

SIGNS AND SYMPTOMS OF DESMOID TUMORS

Desmoid tumors affect the “elastic” tissues of the body so they tend to be very mobile and less likely to form a hard “bump”; therefore a tumor may exist a long time before it is noticed. If they are superficial then they tend to be less painful lumps; those that are deep can be very painful if they are pushing on internal organs, nerves, or blood vessels.

CAUSES OF DESMOID TUMOR

There is no known cause of a desmoid tumor. The Familial Adenomatous Polyposis (FAP) gene is linked to desmoid tumor. Individuals with a mutation in the FAP gene have about a 30% chance of developing desmoid tumors in their lifetime.²

DIAGNOSTIC TESTING FOR DESMOID TUMOR

If a desmoid tumor is suspected, the treating physician will have a patient undergo an MRI of the area of the tumor. An MRI will show how large the tumor is, if it is compressing vital structures (like nerves or blood vessels), and if it is growing along structures (like a sheet) or as a more regular mass. A biopsy is needed to be able to diagnose a desmoid tumor. The type of biopsy depends on the location of the tumor. A pathologist will study the biopsied tissue under a microscope and apply special testing to it in order to diagnose a desmoid.

TREATMENT

Although desmoid tumors are not truly a malignant process, they are very aggressive and can result in destruction of vital organs which can lead to loss of function, or in the most extreme circumstances lead to death. Treatment options are numerous but none can cure this disease.

Therefore, it’s highly recommended that someone with a diagnosis of desmoid tumor be treated and followed in a center with experience in managing this disease.

Surgery is often a first line of treatment if the desmoid is able to be removed without causing severe functional problems or being disfiguring. But, because of the way the desmoid tumor grows into and around other structures, it is often not possible to remove the tumor entirely so it will nearly always return (recur). It is important to discuss this with the treating physician before considering surgical removal.

Desmoid tumors have estrogen receptors so there is a theory that estrogen increases the growth of the tumor. Anti-estrogen medications such as Tamoxifen® have been used in managing the growth of the tumors. Anti-prostaglandins (non-steriodal anti-inflammatory medications or NSAIDS) have also been successful in slowing the growth of the tumor so NSAIDS like ibuprophen are often used for treatment of desmoid tumors. Chemotherapy agents such as doxorubicin, dacarabazine and carboplatin have been used for their ability to stop cell grow. The ‘chemo’ medications are very toxic so the use is limited in favor of those that are less difficult to tolerate.

There are new drugs being studied that are showing some benefit for management of desmoid tumors. These are in a class called kinase inhibitors and the names of the medications are Gleevec® (imatinib) and Nexavar® (sorafenib). Access to these medications can be difficult and may require enrolling in a clinical trial.

Radiation therapy may be considered to shrink the tumor if it can’t be removed surgically. It may also be considered in addition to surgery, especially when the tumor can’t be removed completely during surgery.

The importance of careful monitoring of desmoid tumors can’t be stressed enough.

These tumors recur at a very high rate and can be growing quietly, not becoming symptomatic until they have done some real damage to internal organs or surrounding tissues. Regular follow-up visits to a treating physician are necessary to best manage the disease.

References
1. Mankin HJ, Hornicek FJ, Springfield DS; Extra-abdominal desmoid tumors: a report of 234 cases. J Surg Oncol. 2010;102(5):380.
2. Nieuwenhuis MH, Casparie M, Mathus-Vliegen LM, et al. A nation-wide study comparing sporadic and familial adenomatous polyposis-related desmoid-type fibromatoses. Int J Cancer 2011; 129:256.

Hemangioma|Cells of Blood Vessels, Surface of Skin.

The most common non-cancerous (benign) soft tissue tumor in kids is a hemangioma. This is a tumor that is formed from the cells of blood vessels. Hemangiomas that are on the surface of the skin are often called ‘birthmarks’ because they are present at birth or start to appear during the first few months of life. The most common sites for hemangiomas are the skin of the face, scalp, trunk, and extremities but because they are made of cells that form blood vessels they can be found in deeper tissues.

Because they are so superficial diagnostic testing isn’t usually needed for hemangiomas – their appearance is diagnostic. A deep hemangioma may be seen on an MRI that was requested for a work-up of a condition that wasn’t as apparent. If a deep hemangioma is found, further testing like an angiogram may be needed to show the extent of the tumor or if it’s pressing on other vital structures or affecting blood flow.

Hemangiomas usually decrease in size as a child gets older so often no treatment is necessary. If they become painful a non-steroidal anti-inflammatory drug like aspirin or ibuprofen may be recommended as well as light compression by using a compression stocking or ace wrap.

Some hemangiomas can become quite painful, affect blood supply, or continue to grow. If this is the case then more aggressive management is often considered. Surgery may be recommended to remove a painful hemangioma. A hemangioma that cannot be removed surgically but is continuing to grow can be treated using a procedure called embolization. During an embolization procedure the blood vessel into the tumor is ‘plugged’ to stop the growth of the tumor. Another option may be sclerotherapy, where the blood vessel into the tumor is injected with alcohol to cause the vessel to scar and collapse. Sometimes this requires multiple treatments to be effective. Fortunately most hemangiomas don’t require treatment and can be monitored to assure a more aggressive process isn’t occurring.

Neurofibroma and Neurofibromatosis |Peripheral Nerves

The nerves that come from the spinal cord and extend into our trunk and extremities are called peripheral nerves. A benign soft tissue tumor that forms from the nerve tissue of the peripheral nerve is called a neurofibroma. A neurofibroma may be just is a single tumor, but more often a person has multiple tumors. The presence of multiple neurofibromas is associated with a genetic condition called neurofibromatosis.

Other terms used when describing neurofibromas are:

	Plexiform tumor – on any peripheral nerve; larger, irregular shape, can grow into the nerve more extensive, can become malignant1
	Dermal – on the nerves in the skin, can be cutaneous (on the surface of the skin), subcutaneous (just below the skin, deep nodular (under the lowest later of the skin)

Whether a single tumor (solitary tumor) or part of neurofibromatosis, a neurofibroma can vary in size. It can be a small mass when the tumor develops on a small cutaneous (skin) nerve or it causes enlargement of an extremity (as in elephantitis) when it’s on a larger nerve.

Neurofibroma and neurofibromatosis are considered aggressive benign conditions. The tumors can grow into the bone, weakening it and making it susceptible to fractures; they can also press on nerves and blood vessels causing neuropathy or loss of blood flow to the area of the extremity.

There are two types of neurofibromatosis:

Neurofibromatosis type 1 (von Recklinghausen’s disease) is a hereditary condition, meaning it’s passed from a parent to a child. It affects 1 in 3000 people ^ref.

More common characteristics associated with type 1 are:

There is a small (7%) risk of a neurofibroma associated with neurofibromatosis type 1 becoming cancerous.¹ The cancerous form of neurofibroma is called a neurofibrosarcoma.

Six or more café-au-lait spots (area of brown pigmentation on the skin)
Two or more neurofibromas
Freckling in the armpits or groin area
Deformity of the bone that forms the eye socket
Associated tumors:
o Benign tumors on the iris of the eye (Lisch nodules)
o Cancerous tumor on the optic nerve to the eye (glioma)
o Tumors of the adrenal gland, brain or spinal cord

Neurofibromatosis type 2 is the more severe type and affects 1 in 50,000 people. It is also a hereditary condition.

More common characteristics associated with type 2 are:

Benign tumors called acoustic neuromas on the vestibulocochlear nerve in the ears. Both ears are usually affected and this can lead to balance and hearing problems.
Tumors on the covering of the brain and spinal cord
Brain tumors called gliomas
Possibility of café-au-lait spots but usually less than with type 1
Increased risk of cataracts

DIAGNOSIS OF NEUROFIBROMA AND NEUROFIBROMATOSIS

When a neurofibroma is suspected, an MRI is done to determine exactly where the tumor is located, its size, and if it is invading other tissues.

A biopsy is necessary to confirm the diagnosis of neurofibroma. The location and extent of the tumor will guide the physician in deciding the best type of biopsy.

Once the lesion is confirmed as a neurofibroma, a thorough medical history can help in determining the next steps in diagnostic testing. If there is a family history of neurofibromatosis, an extensive work up may be recommended to determine if the patient has a type of neurofibromatosis.

TREATMENT OF NEUROFIBROMA AND NEUROFIBROMATOSIS

“Watchful waiting” or active surveillance is usually recommended for neurofibromas that are not causing pain or weakness, or invading other structures. This involves regular (possibly yearly) imaging studies like an MRI to assure there hasn’t been a change in the size that would require surgical removal. If there are symptoms or if vital structures are being invaded, surgical excision is recommended. A surgeon with expertise in peripheral nerve surgery should be consulted for treatment. Because plexiform tumors are more invasive, they may be more difficult to remove without causing some damage to the nerve.

In extreme cases where neurofibromas have caused enlargement of extremities to the point that a person has lost functional abilities, amputation may be considered. This is usually done for self-care and hygiene but does not change the growth or development of other tumors.

There are clinical trials (research studies) available for treatment of neurofibromatosis. Patients with severe symptoms or more rapidly growing neurofibromas should discuss options with their treating physicians. Clinical trials focused on aspects of neurofibromatosis can be found at clinicaltrials.gov.

Reference:
Korf BR, Malignancy in Neurofibromatosis Type 1; The Oncologist, December 2000 vol. 5 no. 6 477-48

Korf BR, Plexiform neurofibromas; Am J Med Genet. 1999 Mar 26;89(1):31-7.

Soft Tissue Cysts | Tendons, Tissue

Soft tissue cysts are benign soft-tissue masses that develop in tendons or the tissue that surrounds a joint (joint capsule or synovial membrane). The most common sites that cysts form are the tendons of the wrists, hands, ankles, feet, and knees. Soft tissue cysts can become painful if they press on nearby nerves; they can also affect motion if located near a joint.

Why cysts develop isn’t known but they tend to be associated with repeated trauma to an area or joint. People with osteoarthritis often develop cysts in the joints of the hands and behind the knee if arthritis has affected those joints. Cysts are slightly more common in women.

Many cysts resolve with no treatment or when the underlying problem has been treated (such as when a total knee replacement is done for osteoarthritis of the knee). If symptoms are not relieved by conservative management then surgical excision may be considered. Complete excision usually resolves the symptoms and this typically prevents recurrence.

Some of the more common types of cysts include:

Ganglion cysts – most common in the tendons of the wrists and hands
Baker’s cyst (popliteal cyst) – located in the back of the knee

If there is a suspicion that the cyst is behaving differently than a benign mass, the treating physician may recommend a biopsy to rule out a cancerous process like a synovial sarcoma.

It is important to let a physician know of any changes in the size of the cyst or pain associated with a soft tissue cyst.

DIAGNOSIS | PREPARE FOR TREATMENT:

What You Need to Know and How to Prepare

As you cope with your extremity tumor/cancer and treatment, you will need to have honest and informed conversations with your doctor or other members of your health care team to help you better understand your diagnosis, treatment plan, and overall care. Because medical appointments can be brief, and because there’s often a lot of ground to cover, it’s a good idea to be well-prepared.

Diagnosis of Extremity Tumors

IMAGING STUDIES USED FOR DIAGNOSIS OF EXTREMITY TUMORS

X-ray

An X-rays are used to look at bone details. Because our bones contain a large amount of calcium, the X-ray beam is absorbed by the bones, and an image of the bone is produced.

Soft tissues don’t have much calcium so they don’t show up on x-ray in detail. An exception is lung tissue. The trapped air within the lungs does provide some detail of the lung but not as much as a CT scan.

CT (“CAT”) scan

A Computerized Axial Image or CT scan is a special X-ray that produces a cross-sectional image of a specific area of the body. Because these images are combined “slices” of the area, there is much more detail than a simple X-ray. CT scans are best for showing soft tissue and helping to evaluate if cancer has spread to other areas of the body such as the lungs or brain.

PET scan

A Positron Emission Tomography scan is a test that traces a radioactive substance as it moves throughout the body. The substance, called a tracer, is injected into a person’s bloodstream and as the tracer moves through the body it collects in areas where there is high metabolic activity such as internal organs, the brain, and tumors (which are cells that are growing at a rapid rate, therefore, have a high metabolic activity). The PET detects signals from the tracer substance and a computer program changes the signals into a picture. A radiologist (physician specializing in reading radiological exams) looks for the area of abnormal activity.

PET/CT

in many cancer centers, the PET scan is combined with the CT scan.
The PET/CT takes the capability of the PET scan to show high metabolic activity and of the CT to show soft tissue detail. This produces images that pinpoint the exact location of increased abnormal metabolic activity. MRI – Magnetic Resonance Imaging is a test that uses a very powerful magnetic field, and radiofrequency pulses to take detailed pictures of soft tissues, bones, and internal organs. The images that are produced allow physicians to see the extent of tumors – whether they have grown into (“invaded”) other structures or are localized to the original area. These images are extremely helpful to the surgeon when planning surgery to best address the resection of an extremity tumor.Soft tissues don’t have much calcium so they don’t show up on x-ray in detail. An exception is lung tissue. The trapped air within the lungs does provide some detail of the lung but not as much as a CT scan

MRI

Magnetic Resonance Imaging is a test that uses a very powerful magnetic field, and radiofrequency pulses to take detailed pictures of soft tissues, bones, and internal organs. The images that are produced allow physicians to see the extent of tumors – whether they have grown into (“invaded”) other structures or are localized to the original area. These images are extremely helpful to the surgeon when planning surgery to best address the resection of an extremity tumor.

Bone scan

A bone scan involves the injection of a radioactive substance (tracer) through an IV. The tracer moves through the blood to the bones and other organs. In areas of the bone where there is high metabolic activity (a tumor for instance) more of the tracer will accumulate. A camera slowly scans the entire body and areas where more of the tracer detects are areas of bone disease. A bone scan can assist in the diagnosis of a bone tumor or for staging after someone has been diagnosed with a malignant extremity cancer.

How To Prepare | Bone Tumor

You’ve been diagnosed with a bone tumor. What’s next?

BE PREPARED

As you cope with your extremity tumor / cancer and treatment, you will need to have honest and informed conversations with your doctor or other members of your health care team to help you better understand your diagnosis, treatment plan and overall care. Because medical appointments can be brief, and because there’s often a lot of ground to cover, it’s a good idea to be well-prepared.

Try to:

Write down a list of questions for your doctor before your appointment (see list of possible questions below).

Be aware of any pre-appointment restrictions. At the time you make your appointment, be sure to ask if there’s anything you need to do in advance, such as bringing medical records or restricting your diet.
Write down any symptoms you’re experiencing, including any that may seem unrelated to the reason for which you scheduled your appointment.
Write down key personal information, including any major stresses or recent life changes.

Make a list of all medications, vitamins or supplements that you’re taking.

Consider taking a family member or friend along. Remembering all the information at your appointment can be difficult.

Bring previous scans or X-rays (both images and reports) and any other medical records important to this situation.

QUESTIONS TO ASK

Make sure to list your most important questions first in case time runs out.

What type of tumor do I have?
If cancerous,what is the stage and what does that mean?
Has my tumor or cancer spread beyond its primary site?
What treatment choices do I have?
What are the chances treatment will cure my condition?
What are the side effects and risks of each treatment option?
How will this treatment affect my ability to live my daily life? (Work, mobility, sex, travel, etc.)
Will treatment effect my ability to have children?
Is there one treatment that you think is best for me?
What is the expected timeline of my treatment plan?
What would you recommend to a friend or family member in my situation?
Am I in the best place for treatment of my type of tumor / cancer?
If I would like a second opinion, could you recommend a specialist?
Do you have any printed materials I could take with me? What websites do you recommend?
If I’m worried about managing my costs related to my medical care, who can help me with these concerns?

WHAT TO EXPECT FROM YOUR DOCTOR

Your doctor is likely to ask you a number of questions. Being ready to answer them may allow more time to cover other points you want to address. Your doctor may ask:

When did you first begin symptoms?
Have your symptoms been continuous or occasional?
If you’re having pain, how would describe your pain?
What, if anything, seems to improve your symptoms?
What, if anything, appears to worsen your symptoms?