NF2-related schwannomatosis (NF2) is a rare genetic condition usually diagnosed in young adults. It affects around one in 25,000 to 40,000 people.

NF2 can cause a variety of symptoms and complications, including hearing loss as well as problems with balance and swallowing. Among the most serious is a predisposition to develop certain types of tumors, including the following:

• schwannomas, mostly involving the vestibulocochlear nerve (the nerve that controls balance and hearing)
• meningiomas
• ependymomas

Causes of NF2-related Schwannomatosis

NF2 is caused by a genetic mutation found on chromosome 22. That mutation can be inherited, or it can occur in people without a family history. About half of all people with NF2 inherited the condition from a parent. There is an up to 50 percent chance that someone with NF2 will pass on the mutation to a child.

NF2-related Schwannomatosis Diagnosis

The first steps in diagnosing NF2 include a family history and a careful physical and neurologic examination. Doctors use hearing tests and MRI to look for schwannomas and other tumors associated with NF2.

In some cases, a genetic test can help make the diagnosis.

NF2-related Schwannomatosis Treatment

The treatments for NF2 vary from person to person. For most people, our approach to care involves monitoring for tumors while treating neurologic problems, changes in gait, hearing loss, and other symptoms. When treatment is required, it may include surgery, radiation, or medication.

At Memorial Sloan Kettering, our goal is to give everyone who comes to us for NF2 treatment compassionate, personalized care from a multidisciplinary team of experts. Your team will include doctors, nurses, and other professionals who are dedicated to caring for people with NF2 and the tumors associated with the disease.

MSK doctors are leading experts in treating people with NF2 and have pioneered new treatment approaches. We use the most-advanced imaging technology available to monitor the disease. When treatment is needed, we will create a personalized care plan based on the precise details of the tumor. This level of specialization can often have a dramatic effect on our patients’ quality of life.

In addition, MSK participates in the Neurofibromatosis Clinical Trials Consortium (NFCTC). This group gives people with neurofibromatosis access to a wide array of ongoing research studies focused on preventing or treating complications associated with the disorder. We work closely with the Children’s Tumor Foundation (CTF) to conduct research and connect people with support services.