Schwannomatosis is a rare genetic condition usually diagnosed in people in their 20s. The most common complication of schwannomatosis is the development of a painful type of tumor called a schwannoma. Schwannomas develop on the tissue that covers nerves (called the nerve sheath).
Often, our patients are able to see multiple specialists — a neurologist, a neurosurgeon, pain management specialists, and others — all in one visit to our biweekly Neurofibromatosis Clinic at Memorial Sloan Kettering’s main location on Manhattan’s Upper East Side. This approach spares our patients the inconvenience of having multiple appointments with the different specialists involved in their care.
Call us directly at 866-886-9807 to make an appointment.
Causes of Schwannomatosis
About half of people with schwannomatosis have mutations in the genes SMARCB1 or LZTR1. These mutations can be inherited, but more often they occur in people without a family history. Doctors are working to identify other mutations that may give rise to schwannomatosis.
The first step in diagnosing schwannomatosis usually involves an MRI so doctors can look for tumors.
Not everyone who develops a schwannoma is considered to have schwannomatosis. People with schwannamotosis must be diagnosed with at least two schwannomas. One of those schwannomas must be removed surgically so that a pathologist can confirm the diagnosis.
The treatment for schwannomatosis varies from person to person. Most of the time our approach to care involves monitoring for tumors while managing pain, neurologic problems, and other symptoms.
At Memorial Sloan Kettering, our goal is to give everyone who comes to us for schwannomatosis 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 schwannomatosis and the tumors associated with the disease.
MSK doctors are leading experts in treating the tumors associated with schwannomatosis. We use the most-advanced imaging technology available to monitor for them. We also place a strong emphasis on pain management. When treatment is needed, we will create a personalized care plan based on the precise details of the tumor.
Our neurosurgeons have particular expertise in removing complicated tumors in the spine and other hard-to-reach or delicate parts of the body. Many times we can remove tumors that are considered inoperable elsewhere. We use the latest technology, including robotic surgery, and minimally invasive approaches whenever possible. 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.