MSK experts treat neurofibromatosis and schwannomatosis, conditions that make it more likely tumors will develop.
What are neurofibromatosis and schwannomatosis?
Neurofibromatosis (NOOR-oh-FY-broh-muh-TOH-sis) and schwannomatosis (shwah-NOH-muh-TOH-sis) are rare genetic conditions. They make it more likely you will get tumors.
Many of these tumors are not cancer. But they can harm you. These tumors can make you disabled, and even can be a threat to your life.
Most often, these tumors grow in the brain and spinal cord. They also grow in peripheral (peh-RIH-feh-rul) nerves. These are nerves outside the brain and spinal cord that control sensation (feeling), movement, and coordination.
MSK’s Neurofibromatosis Clinic offers care from a team of experts. This disease affects many parts of the body, but can be treated and managed. You may need treatment from different doctors. It’s important to get care from a team that works closely together. You often can get all your visits scheduled for the same day at MSK’s main hospital in Manhattan.
Call us at 212-639-6767 to make an appointment
Risk factors for neurofibromatosis
Neurofibromatosis can be inherited (passed on in your genes from a parent). It also can happen in people who did not inherit neurofibromatosis from their parents.
Types of tumor predisposition syndromes
A tumor predisposition (PREE-dih-spuh-ZISH-uhn) syndrome is a genetic condition that raises your risk for getting tumors. These syndromes are inherited in some families, passed on from parents to children. They’re caused by changes (mutations or variants) in genes.
There are 3 tumor predisposition syndromes:
- Neurofibromatosis type 1
- Schwannomatosis
- NF2-related schwannomatosis, a condition that used to be named neurofibromatosis type 2.
This chart compares the 3 types and explains how they’re different.
| NF1 | Schwannomatosis | NF2-related schwannomatosis | |
|---|---|---|---|
| Types of tumors or cancers it causes |
|
|
|
| Signs and symptoms |
| Pain in spine, or in the peripheral or cranial nerves |
|
| How rare is it? (estimate) | 1 out of every 3,000 people | 1 out of every 40,000 people | 1 out of every 25,000 people |
| The gene that changed | NF1 | SMARCB1 or LZTR1 | NF2 |
Some people with neurofibromatosis have many tumors, but others do not. The number and location of tumors depend on the type of neurofibromatosis you have.
What causes neurofibromatosis and schwannomatosis?
Each type of tumor predisposition syndrome can be caused by a change in a different gene. They all can be inherited. They also all can happen in people who did not inherit the condition from a parent.
Genetics also play a role in the number of tumors that form. Genetic testing may help us understand more about the tumors.
MSK’s genetic testing to guide treatment
For people with some types of tumors, we may be able to find the best treatment through genetic testing. MSK uses a genome-sequencing test we developed here called MSK-IMPACT®
This test lets doctors find out right away whether a tumor has genetic changes. These changes can make it more likely the tumor will respond well to certain drugs. We use this genetic information to match the tumor to the best treatments.
You also may be able to join one of our clinical trials, based on the tumor’s genetic profile.
Learn more about genetic testing and counseling at MSK.
Why choose MSK for neurofibromatosis care?
MSK offers expert care through its Neurofibromatosis Clinic. This disease can affect many parts of the body. You may have to be treated by many types of doctors. It’s important to get treatment from a team that works closely together to coordinate your care.
The Neurofibromatosis Clinic makes treatment as convenient as possible. You often can get all your visits scheduled for the same day at MSK’s main hospital in New York City. It’s much easier than juggling appointments on different days.
A team of experts
The Neurofibromatosis Clinic brings together many kinds of experts. They include:
- Genetic counselors
- Medical oncologists (cancer doctors)
- Neurologists (doctors with special training in the central and peripheral nervous system)
- Neuro-oncologists (doctors with special training in brain and spinal tumors)
- Neurosurgeons (doctors with special training in surgery in the nervous system)
- Ophthalmologists (eye doctors)
- Orthopedic surgeons (doctors with special training in surgery on joints, muscles, and bones)
- Pain management doctors
- Physiatrists (a doctor with special training in physical and rehabilitation medicine)
- Surgical oncologists (doctors who treat cancer with surgery)
MSK neurologists, neuro-oncologists, and neurosurgeons are among the most skilled in the world. They’re experts in caring for people with complex tumors. These tumors often are in the:
- Brain
- Spinal cord
- Peripheral nerves
- Other parts of the body
Your care team also will manage pain, neurologic (nerve) problems, and other symptoms.
Five Fast Facts About Neurofibromatosis (NF)
- Neurofibromatoses are genetic disorders. They can cause tumors in the nervous system, including the brain and the spinal cord.
- NF tumors are not cancer. But they can harm you or even be a threat to your life.
- There are 3 types. They are neurofibromatosis type 1 (NF1), schwannomatosis, and NF2-related schwannomatosis.
- NF can be treated and managed. There are also promising new medicines.
- MSK has a Neurofibromatosis Clinic. It offers care from a team of experts.
Neurofibromatosis clinical trials
Clinical trials at MSK
Clinical trials are research studies that test new treatments, procedures, or devices to see how well they work. MSK is part of the Neurofibromatosis Clinical Trials Consortium (NFCTC). MSK patients have access to clinical trials that will help them the most.
These research studies focus on preventing or treating complications (problems) related to the disorder. We work closely with the Children’s Tumor Foundation on research and connect people with support services.
Researching new treatments for neurofibromatosis
The Neurofibromatosis Clinic also works closely with MSK researchers exploring treatments for neurofibromatosis. Our goal is to change their discoveries into new treatments for this disease.
- Our Brain Tumor Center is developing drugs to treat tumors linked to neurofibromatosis. They include gliomas, neurofibromas, and malignant peripheral nerve sheath tumors.
- MSK researchers are studying genetic and other changes that cause these tumors.
Available Monday through Friday, to (Eastern time)
