Neurofibromatosis (NF) Treatment Program

Overview

As one of the oldest and most experienced neurofibromatosis (NF) programs in the United States, we offer patients:

• A unique combination of pediatric and adult care for all forms of NF to ensure seamless care through all stages of our patients’ lives
• A close partnership with the Cancer Center's Pappas Center for Neuro-Oncology in order to provide specialized tumor care and access to innovative clinical trials
• Comprehensive, multispecialty care with access to pediatric specialists through the Mass General for Children, and a broad range of experts in adult care throughout Mass General, including genetic and reproductive counselors
• Groundbreaking science: Our physician-scientists were the first to identify the gene responsible for NF2 and also have been active in investigation of the genetic abnormalities associated with NF1 and, more recently, with schwannomatosis
• Detailed clinical notes for referring physicians that include a summary of NF-related issues that are being followed in the clinic

Expert Diagnosis

NF is usually diagnosed by examination and identification of clinical signs. Skin and eye examinations are essential for diagnosing NF1, and radiologic examination is essential for diagnosing NF2. Genetic testing is not usually necessary for diagnosis but may be helpful in identifying children who do not yet show signs of NF.

Preventive Medicine and Medical Management

Most patients with NF have only mild-to-moderate symptoms and do not require active treatment. We work to anticipate and identify problems commonly associated with NF including neurofibromas/schwannomas, learning disability, attention-deficit hyperactivity disorder, headache, osteoporosis, and collaborate with the appropriate clinicians to manage these conditions.

We are active participants in studies of new drugs designed to shrink tumors or stop tumor growth, and our involvement in clinical investigation allows us to bring new treatments to our patients as quickly as possible.

Up to 10 percent of people diagnosed with NF1 develop malignant (cancerous) tumors during their lifetime. We collaborate with our colleagues in the Center for Sarcoma and Connective Tissue Oncology, one of the oldest, largest, and most experienced sarcoma treatment programs in the country, to provide comprehensive care for these patients.

Genetic Counseling

People with NF are often concerned about whether other members of their family will also develop NF, and prospective parents may want counseling before they attempt a pregnancy. We provide genetic counseling to help patients make decisions about whether and how to pursue genetic testing. We refer prospective parents to the Massachusetts General Hospital Fertility Center's Preimplantation Genetic Diagnosis (PGD) Program, which helps couples with an increased risk for a specific genetic abnormality to have a child unaffected by that particular disease.

Multidisciplinary Patient Care

Your treatment team is a multidisciplinary group of brain and central nervous system cancer experts.

• Neurologists with expertise in adult and pediatric care evaluate all patients to create personalized monitoring and management plans
• Genetic counselors answer questions about the genetic basis of NF and counsel patients how to maximize the chance of having pregnancies that are unaffected by NF
• Nurses bring special expertise in neurologic care with a focus on NF
• Radiologists use the latest imaging methods to evaluate skeletal changes and tumors, to assist in surgical planning, and to monitor results of treatment
• Surgeons provide the most advanced surgical techniques to maximize tumor removal and maintain function and cosmetic appearance
• Pathologists evaluate all tumor samples to provide precise diagnostic information
• Radiation oncologists offer innovative radiation therapy techniques to effect tumor destruction while preserving normal nearby tissue
• Psychiatrists, social workers, and chaplains provide psychosocial support for patients and families
• Nutritionists help with dietary issues to enhance your health and well-being during treatment
• Palliative care providers work with your team to address pain and quality-of-life concerns

Nerve sheath tumors (non-cancerous tumors of nerves) can arise anywhere in the body, and we collaborate with other clinical services throughout Massachusetts General Hospital including orthopaedic surgeons, ophthalmologists, ear, nose, and throat specialists, dermatologists, endocrinologists, plastic surgeons, audiologists, pain management specialists, learning specialists, and others to provide comprehensive, integrated care for every patient.

Excellence in Surgical Care

Depending on your symptoms, surgery may be beneficial to improve functionality, alleviate pain or address significant cosmetic concerns.

We offer specialized surgery for vestibular schwannomas (previously known as acoustic neuromas) associated with NF 2 and perform the highest volume of these complex operations in New England.

Together with our surgical colleagues at the Massachusetts Eye and Ear Infirmary, we offer an implantable prosthesis (auditory brainstem implant, ABI) that helps patients regain hearing loss from vestibular schwannomas surgery.

Pioneering Radiation Therapies

• For patients who develop NF-associated cancers, our radiation oncologists offer a range of therapies designed to shrink or destroy tumors while protecting normal tissue. Advanced technologies include:
• Proton beam therapy, a highly focused form of radiation that delivers more radiation to the tumor and less to surrounding tissue than conventional photon radiation. Our physicians have the longest experience in the U.S. in using protons to treat brain tumors
• Stereotactic radiosurgery (SRS), a form of radiation that uses several converging beams to focus a large dose of radiation on the tumor

Developing Better Therapies through Research

We work with the Center for Neurofibromatosis and Allied Disorders, a collaboration of NF physician-scientists, to study the mechanisms, variations, and best treatments for NF. Promising areas of inquiry include:

• Phenotype/genotype analysis to learn more about the variations in symptoms related to NF
• Screening tumor cell tissue to identify new targets for therapy
• Effectiveness of whole-body MRI to accurately assess internal tumor load
• Effectiveness of laser scanning with 3-D image reconstruction to count skin tumors
• Quality of life for people with NF

Clinical Trials

We are active participants in investigation of new therapies, including chemotherapy for malignant tumors, targeted agents such as immunomodulators and anti-angiogenesis drugs to shrink or stop tumor growth and laser removal of tumors.

Find clinical trials for neurofibromatosis.