Neurofibrosarcoma is usually found in the arms and legs and can spread extensively along nerve tissue. It usually does not metastasize (spread) to other parts of the body, although it sometimes spreads to the lungs. It affects mostly young and middle age adults.

Neurofibrosarcoma is considered a soft tissue sarcoma, cancer that originates in soft tissue which includes fat, muscles, tendons, nerves, synovial tissue, blood vessels and other fibrous tissue. As a group, soft tissue sarcomas account for less than 1 percent of all new cancer cases each year. In the United States, approximately 900 children and adolescents are diagnosed with soft tissue sarcomas each year. Neurofibrosarcoma accounts for 5 to 7 percent of all soft tissue sarcoma cases.

People with neurofibromatosis (which involves alterations in the NF1 gene) are at an increased risk for developing neurofibrosarcoma. Neurofibromatosis, also known as Recklinghausen's disease, is a genetic condition in which benign fibrous tumors develop inside nerve tissue. Neurofibrosarcoma occurs in up to 16 percent of those with neurofibromatosis.

Symptoms may include:

• A painless swelling or lump, usually in the arms or legs
• Pain or soreness
• Limping or other difficulty using the arms, legs, feet or hands

Patients undergo various imaging studies that will include one or more of the following:

• X-rays - a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film X-rays are often the first diagnostic study, and often give the doctor information regarding the need for further testing.
• Magnetic Resonance Imaging (MRI) - a diagnostic procedure that uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within the body. This test is done to judge the extent and size of the tumor and its relationship to adjacent nerves, blood vessels and bone.
• Computerized Tomography scan (also called CT or CAT scan) - a diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices)both horizontally and vertically, of the body. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat and organs. CT scans are more detailed that general X-rays
• Bone scans - a nuclear imaging method to evaluate any degenerative and/or arthritic changes in the joints; to detect bone diseases and tumors; to determine the cause of bone pain or inflammation. This test is to rule out any infection or fractures.

• Complete blood count (CBC) - a measurement of size, number and maturity of different blood cells in a specific volume of blood
• Blood tests - (including blood chemistries)

Neurofibrosarcoma may be localized, meaning it has not spread beyond the nerve tissue where it arose or metastatic, meaning it has spread, in this case usually to the lungs. However, most often, neurofibrosarcoma remains localized.

• The patient's age, overall health, and medical history
• Extent of the disease
• The patient's tolerance for specific medications, procedures or therapies
• How the doctor expects the disease may progress
• Your opinion and preference

Surgery includes biopsy and surgical removal of the entire tumor, and nearby tissue. Depending on the location and size of the tumor, it may be necessary to remove all or part of the limb. In most cases limb-sparing surgery is used to avoid amputation. The following is a description of both procedures.

• Limb-salvage surgery: Limb-sparing surgery is indicated only if the orthopaedic surgeon determines that it is possible that the tumor, and wide margins of healthy tissue surrounding the tumor, can be removed. Through limb-sparing surgery, all of the tissue involved with the tumor, including some degree of nerve and other tissue surrounding it are removed, unaffected tendons, nerves and vessels are saved. If bone is also removed, it is usually replaced with a bone graft or with a metal rod. Subsequent surgery may be needed to repair or replace rods, which can become loose or break. Patients who have undergone limb-salvage surgery need intensive rehabilitation. It may take as long as a year for a patient to regain full use of a leg following limb-salvage surgery. Some patients who have limb-sparing procedures may eventually have to undergo amputation. Radiation therapy and/or chemotherapy are given either before surgery to shrink the tumor, or after surgery to kill remaining cancer cells.

• Amputation: In certain cases, your orthopaedic surgeon determines that the tumor cannot be removed because, for example, it involves the nerves and blood vessels, amputation is the only option. During the operation, doctors ensure that muscles and skin form a cuff around the amputated bone. A cast is applied in the operating room which permits a temporary artificial leg (prosthesis) to be applied during the first few post-operative days for walking. Crutches are used for several weeks. As the swelling decreases (10 to 14 days) the patient is fitted for a plastic, temporary socket and prosthesis, which is used for 3 to 4 months until the stump is healed sufficiently to accept a permanent artificial leg. The advantages of an amputation are that it is a simple operation with minimal chances of surgical complication and it definitively removes the local tumor. The functional outcome is good with the modern prostheses available today and with "immediate-fit" prostheses applied in the operating room. Although the patient will probably have a limp with above-the-knee amputations, the procedure is functional and stable. He/she will be able to walk, climb stairs, swim (with the prosthesis on or off) and participate in many sports such as skiing, basketball, baseball, and tennis although running will be limited. The functional limitations are left to the imagination and determination of the patient.

Radiation therapy is a procedure that uses high energy rays (radiation) from a specialized machine to damage or kill cancer cells and shrink tumors. This is sometimes used in conjunction with surgery, either before or after resection of the tumor. On rare occasions, radiation alone is used for treatment of the primary tumor.

Chemotherapy is a drug treatment that works by interfering with the cancer cell's ability to grow or reproduce. Different groups of drugs work in different ways to fight cancer cells and shrink tumors. Chemotherapy may be used alone for some types of cancer or in conjunction with other therapy such as radiation or surgery. Often, a combination of chemotherapy drugs is used to fight a specific cancer. Certain chemotherapy drugs may be given in a specific order depending on the type of cancer it is being used to treat. While chemotherapy can be quite effective in treating certain cancers, the agents do not differentiate normal healthy cells from cancer cells. Because of this, there can be many adverse side effects during treatment. Being able to anticipate these side effects can help the care team, parents, and child prepare and, in some cases, prevent these symtpoms from occurring, if possible. Chemotherapy is a systemic treatment, meaning it is introduced into the bloodstream and travels throughout the body to kill cancer cells.

Chemotherapy may be given:

• As a pill to swallow
• As an injection into the muscle or fat tissue
• Intravenously (directly to the bloodstream; also called IV)
• Intrathecally (given directly into the spinal column with a needle

A schedule of follow-up care will be determined by you or your child's physician and other members of you care team to monitor ongoing response to treatment and possible late effects of treatment.

Treatment options will vary greatly, depending on you or your child's individual situation. Your child's physician and other members of your care team will discuss these with you in-depth.

Prognosis greatly depends on:

• The extent of the disease
• The size and location of the tumor
• A presence of absence of metastasis
• The tumor's response to therapy
• The age and overall health of the patient
• The patient's tolerance of specific medications, procedures, or therapies
• New developments in treatment

Other types of treatment currently being studied include:

• Angiogenesis inhibitors - substances that may be able to prevent the growth of tumors by blocking the formation of new blood vessels that feed the tumors.
• Biological therapies - a wide range of substances that may be able to involve the body's own immune system to fight cancer or lessen harmful side effects of some treatments.