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Neurofibromatosis

Mass General Brigham is a national and international referral center for neurofibromatosis. We host one of the nation's largest adult neurofibromatosis clinics and see both adults and children who have been diagnosed with, or are at risk for, neurofibromatosis. Since these disorders can be complicated to evaluate and manage, we create a team of experts from multiple specialties, including neuro-oncology, neurosurgery, plastic surgery, orthopedic surgery, dermatology, ophthalmology, otolaryngology, audiology, and many others.

Male provider setting up IV bag

Our neurofibromatosis expertise

Neurofibromatosis consists of a group of genetic disorders that cause tumors to form in the brain, spinal cord and peripheral nerves. While these tumors are typically benign (noncancerous), they can impart neurological deficits and may severely impair function and quality of life. Further, in the case of NF1, tumors may also become malignant.  

There are three types of neurofibromatosis:  

  • Neurofibromatosis Type 1 (NF1): previously known as von Recklinghausen disease, this disease most commonly causes noncancerous tumors on the skin (neurofibromas), though carries risk of many tumors and neurological symptoms.  
  • Neurofibromatosis Type 2 (NF2): this disease most commonly causes non-malignant tumors (schwannomas) on the balance and hearing nerves, which may impair hearing. 
  • Schwannomatosis: this disease most commonly causes non-malignant tumors (schwannomas) to develop on other nerves in the central and peripheral nervous system. 

Neurofibromatosis is usually diagnosed by way of a thorough physical and neurological examination. Since these disorders can be complicated to evaluate and manage, we create a team of experts from multiple specialties across Mass General Brigham, including neuro-oncology, neurosurgery, plastic surgery, orthopedic surgery, dermatology, ophthalmology, otolaryngology, audiology, and many others. This team works together to optimize your care for the best possible outcomes, every step of the way. Genetic testing may be necessary for diagnosis and for optimizing the health of your current or future family, so our team also works closely with genetic counselors.

Neurofibromatosis treatment options

Once we have established a diagnosis of neurofibromatosis, we will work with you and family members to develop a personalized monitoring or treatment plan. If you have no major symptoms, we may need to see you routinely for monitoring purposes. If you have more acute symptoms, you may require active treatment. In either case, we will provide your primary care physician with detailed notes to help with symptom tracking and monitoring. 

For patients with more problematic symptoms, our multidisciplinary approach to neurofibromatosis care is crucial. Since neurofibromatosis can affect multiple organ systems, our neuro-oncology team will coordinate care among various specialists with extensive experience in treating the different manifestations of these disorders. We will individualize your treatment plan based on your symptoms as well as your particular needs and preferences.  

At Mass General Brigham, you will find all the latest treatments for neurofibromatosis. Your care team may employ one or more of the following options to give you the best chance at a successful outcome.

Mass General Brigham offers state-of-the-art neurofibromatosis therapies including the first-ever drug for NF1 approved by the U.S. Food and Drug Administration. The drug is not yet widely available outside of the United States.

For patients with NF1 associated neurofibromas or NF2 or schwannomatosis-associated schwannomas (including vestibular schwannomas), surgery may help improve functionality, alleviate pain or address significant cosmetic concerns. Mass General Brigham performs the highest volume of these complex operations in the northeastern United States. In addition, for patients undergoing removal of vestibular schwannomas in collaboration with our surgical colleagues at Mass Eye and Ear, we may be able offer an implantable prosthesis that helps patients regain hearing loss.

NF1, NF2 and schwannomatosis are genetic disorders, so genetic counseling is central to our neurofibromatosis care. Our team leverages emerging reproductive technologies and screening techniques to help prospective parents make informed decisions. If appropriate, we will refer you to other Mass General Brigham specialists for screening and testing for genetic syndromes or assistance in giving birth to an unaffected child.

A team of neurofibromatosis experts behind you

Meet Mass General Brigham's multidisciplinary team of neurosurgeons and other neurofibromatosis experts.

Neurofibromatosis clinical trials 

We continue to make new discoveries in the laboratory and bring these breakthroughs to the bedside via clinical trials. In fact, Mass General Brigham is one of the world's most active sites for clinical trials focused on neurofibromatosis, including trials of therapies discovered in our own laboratories and stemming from our role in the national neurofibromatosis clinical trial consortium. Through these studies, you may gain access to promising new neurofibromatosis treatments.

Neurofibromatosis care for international patients

Each year, thousands of patients from more than 140 countries travel to Mass General Brigham for medical care, second opinions and treatments unavailable anywhere else in the world.  

Mass General Brigham is experienced in caring for neurofibromatosis patients who are traveling great distances to our hospitals in Boston. Your cancer team here and our international patient services team will help you prepare for and plan the appropriate amount of time to stay in Boston for your appointments, treatments and any recovery time. During this recovery time in Boston or back home in your country, our clinical team will monitor your well-being and progressions to continuously optimize your treatment plan and symptoms. 

Our international patients often have questions about everything from travel and lodging to scheduling appointments. Our International Patient Care Team is here to help. We look forward to making your Mass General Brigham experience as healing and stress-free as possible.


Learn more about our neuro-oncology expertise.