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Neurofibrosarcoma

  • Neurofibrosarcoma, also known as peripheral nerve sheath tumor, is a malignant tumor that develops in the cells surrounding the peripheral nerves.  

    • Peripheral nerves receive messages from the central nervous system (brain and spinal cord), which leads them to stimulate voluntary movement.
    • Neurofibrosarcoma is usually found in the arms and legs and can spread extensively along nerve tissue.
    • It usually doesn’t metastasize (spread) to other parts of the body, although it sometimes spreads to the lungs.
    • Neurofibrosarcoma affects mostly young and middle-age adults.
    • It can sometimes arise in people with neurofibromatosis (NF1).

    How Dana-Farber/Boston Children’s Cancer and Blood Disorders Center approaches neurofibrosarcoma

    We understand that you may have a lot of questions when your child is diagnosed with neurofibrosarcoma. Is it dangerous? Will it affect my child long-term? What do we do next? We’ve tried to provide some answers to those questions in the following pages, and our experts can explain your child’s condition fully. If you have further questions during your hospital stay, we have a resource room that will help answer your questions.

    Our multidisciplinary Bone and Soft Tissue Program team conducts in-depth discussions of each case and personalizes treatment plans for every patient. Your child will receive integrated care from a team that includes the following specialists:

    • pediatric oncologists, surgical oncologists and radiation oncologists
    • pediatric experts from every medical subspecialty, such as orthopedics, ophthalmology, physical therapy and radiology, among others  
    • highly skilled and experienced pediatric oncology nurses
    • Child Life specialists, psychologists, social workers and resource specialists who provide supportive care before, during and after treatment

    In addition, our cancer center offers the following services:

    • Expert diagnosis by pathologists using advanced molecular diagnostic testing to identify your child’s type of tumor. Knowing the molecular composition of a tumor helps predict which treatments are more likely to work.
    • Expert surgical care from experienced pediatric surgeons and orthopaedic surgeons, several of whom developed approaches used at centers across the country.  
    • Access to unique Phase I clinical trials, from our own investigators, and from the Children’s Oncology Group.
    • Support services to address all of your child and family’s needs.

    A weekly survivorship clinic, which set the national standard for childhood cancer survivorship care. This weekly clinic offers ongoing care to manage late effects caused by your child’s cancer or the treatment they received.

    Boston Children's Hospital
    300 Longwood Ave
    Fegan 2
    Boston MA 02115 

    617-355-6021
    fax: 617-730-0456

  • How common are neurofibrosarcomas?

    Neurofibrosarcoma is considered a soft tissue sarcoma—a 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, about 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.

    What causes neurofibrosarcoma?

    The exact cause of neurofibrosarcoma is not entirely understood, however, studies have indicated that genetics may play a role in the formation of all soft tissue sarcomas.

    Limited studies have shown a possible link between soft tissue sarcomas and other types of cancer.

    Who is at increased risk for developing neurofibrosarcomas?

    If your child has neurofibromatosis (which involves alterations in the NF1 gene), he may be at an increased risk for developing neurofibrosarcoma.  

    These tumors occur in up to 16 percent of people with neurofibromatosis. Neurofibromatosis, also known as Recklinghausen's disease, is a genetic (inherited) condition in which benign fibrous tumors develop inside nerve tissue.

    What are the symptoms of neurofibrosarcoma?

    Since neurofibrosarcoma affects tissue that is elastic and easily moved around instead of hard and stationary, a tumor may exist for a long time before being discovered, growing large and pushing aside surrounding tissue.

    While each child may experience symptoms differently, and symptoms can vary greatly depending on size, location, and spread of tumor, some of the most common 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

    The symptoms of neurofibrosarcoma may resemble other conditions or medical problems. Always consult a physician for a diagnosis.

    What is the long-term outlook for patients with neurofibrosarcoma?

    Your child’s 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 your child
    • your child’s tolerance of specific medications, procedures, or therapies
    • new developments in treatment

    As with any cancer, prognosis and long-term survival can vary greatly. Prompt medical attention and aggressive therapy are important for the best outcome. Because side effects of radiation and chemotherapy, as well as recurrence of the disease, may occur, continuous follow-up care is essential.

  • How is a neurofibrosarcoma diagnosed?

    In addition to a complete medical history and physical examination, the most conclusive diagnostic procedure your child will have is a biopsy, which is a single tissue sample taken from the tumor through a simple surgical procedure. The tumor's appearance under a microscope helps doctors to:

    • distinguish it from other types of cancer
    • determine how aggressive the cancer is

    Your child may also undergo various imaging studies that will include one or more of the following:

    • x-rays - a 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 procedure that uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within your child’s body.  
    • computerized tomography scan (also called CT or CAT scan) - an 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.  
    • bone scans - a nuclear imaging method to evaluate any degenerative and/or arthritic changes in the joints; to detect bone diseases and tumors; and to determine the cause of bone pain or inflammation.  

    Other tests your child’s doctor may order include:

    • 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

    Staging

    Once neurofibrosarcoma has been diagnosed, the tumor is given a “stage,” usually stage I, stage II, stage III or stage IV. This indicates how far the tumor has spread from its original location. The stage helps doctors decide which form of treatment is most appropriate, and predicts how the condition is likely to respond to therapy.

    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.

  • Surgery

    Surgery includes biopsy and 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 your child's orthopedic surgeon thinks that it is possible that the tumor (and wide margins of healthy tissue surrounding the tumor) can be removed.
      • In this type of surgery, all tissue involved with the tumor, including some of the nerve and other tissue surrounding it, are removed, and 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. Your child might need later surgery to repair or replace rods, which can become loose or break.
      • This type of surgery requires intensive rehabilitation. It may take as long as a year for your child to regain full use of a leg following limb-salvage surgery.
      • Radiation therapy and/or chemotherapy may be given either before surgery to shrink the tumor, or after surgery to kill remaining cancer cells.
      • Some patients who have limb-sparing procedures may eventually have to undergo amputation.
    • Amputation:
      • In certain cases, your child's orthopedic surgeon may determine that the tumor cannot be removed; if, for example, it involves the nerves and blood vessels.   In these cases, 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 also good with the modern prostheses available today, including "immediate-fit" prostheses applied in the operating room.
      • Although your child will probably have a limp with above-the-knee amputations, the procedure is functional and stable. He will be able to walk, climb stairs, swim (with the prosthesis on or off) and participate in many sports.

    Radiation therapy

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

    Chemotherapy

    Chemotherapy is a drug treatment that works by interfering with the cancer cell's ability to grow or reproduce.

    How is chemotherapy given?

    Different chemotherapies 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(directly into the spinal column with a needle)

    How is chemotherapy used?

    This depends on many factors. Some things to keep in mind:

    • A number of combinations of chemotherapy drugs are currently being used to stabilize and, in some cases, to shrink the size of the tumor.
    • Depending on the type of cancer, chemotherapy drugs may be given in a specific order.
    • Chemotherapy may be used alone for some types of cancer, or in conjunction with other therapy such as radiation or surgery.

    Does chemotherapy come with bad side effects?

    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 your child, family and your child's health care team prepare for and sometimes prevent these symptoms from occurring.

    Continuous follow-up care

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

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

  • Research & Innovation

    What is the latest research on soft tissue sarcomas?

    A variety of chemotherapeutic regimens have been evaluated in the treatment of newly diagnosed high-grade gliomas.

    • While studies in adults have suggested that procarbazine, vincristine and CCNU (PVC) produce modest responses in grade III gliomas, this has not been demonstrated for pediatric cases or for grade IV tumors.
    • Several other regimens have also produced responses, but none has improved survival.
    • Increased doses of chemotherapy in the setting of autologous bone marrow transplant have also not produced notable advantage.

    We are conducting numerous research studies that will help clinicians better understand and treat soft tissue sarcomas. 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 your child’s own immune system to fight cancer or lessen harmful side effects of some treatments

    What is the latest research on neurofibrosarcoma?

    Scientists at Boston Children's Hospital and Dana-Farber Cancer Institute are conducting numerous research studies that will help clinicians better understand soft tissue tumors.

    Clinical trials

    There are many ways in which your child might benefit from our medical research program. Our doctors and scientists have made many breakthrough discoveries about diseases like polio and leukemia; our ongoing innovative research continues to push the boundaries of the way pediatric medicine is practiced.

    It’s possible that your child will be eligible to participate in one of our current clinical trials. These studies are useful for a multitude of reasons:

    Some trials are designed to evaluate the effectiveness of a particular drug, treatment or therapy on a specific disease; others help doctors to better understand how and why certain conditions occur. At any given time,

    We have hundreds of clinical trials underway. Of course, your motives as a parent needn’t be entirely altruistic—you’ll naturally want to know how taking part in a trial can immediately benefit your child. If your child’s physician recommends participation in one of Children’s clinical trials, that likely means that your child’s physician believes that the plan outlined in that trial represents the absolute best, latest care your child can possibly receive.

    And participation in any clinical trial is completely voluntary: We will take care to fully explain all elements of the treatment plan prior to the start of the trial, and you may remove your child from the medical study at any time.

    To search for a cancer trial at Dana Farber/Children’s Hospital Cancer Center, go to:
    http://www.dana-farber.org/Apps/clinical_trials/search.aspx (under Pediatric).     

    To search the NIH’s list of clinical trials taking place around the world, go to: http://www.clinicaltrials.gov/ct2/search

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