Neurofibromatosis type 2

What causes neurofibromatosis type 2?

Neurofibromatosis type 2 is caused by changes (mutations) in the NF2 gene. NF2 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF2 result in an abnormal protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in neurofibromatosis type 2.

People with neurofibromatosis type 2 are typically born with one mutated copy of the NF2 gene in each cell and are, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the NF2 gene must be altered. The mutation in the second copy of the NF2 gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. Almost everyone who is born with one NF2 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 2.

Last updated on 05-01-20

How is neurofibromatosis type 2 diagnosed?

The diagnosis of neurofibromatosis type 2 (NF2) is usually based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the NF2 gene is available; however, this testing may not be informative in all people affected by NF2, particularly those who are mosaic for the condition.

GeneReviews' Web site offers more specific information about the diagnostic criteria of NF2 and genetic testing for the condition. Please click on the link to access this resource.

Last updated on 05-01-20

Is neurofibromatosis type 2 inherited?

Neurofibromatosis type 2 (NF2) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF2. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. A person with NF2 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

Last updated on 05-01-20

What is the long-term outlook for people with neurofibromatosis type 2?

The long-term outlook (prognosis) for people with neurofibromatosis type 2 (NF2) varies based on a number of factors, including the age at which symptoms develop; the degree of hearing deficit; and the number and location of various tumors. On average, people affected by NF2 begin showing symptoms of the condition in their late teens to early twenties (onset range: birth to 70 years) and almost all affected people develop bilateral (affecting both sides) vestibular schwannomas by age 30 years. The size, location, and number of tumors can vary significantly from person to person. Although the tumors associated with NF2 are generally benign, they can interfere with quality of life and lead to early mortality due to their location and quantity. The average age of death in people with NF2 is 36 years. However, survival is improving with earlier diagnosis and better treatment in specialty centers.

Last updated on 05-01-20

How might neurofibromatosis type 2 be treated?

People with neurofibromatosis type 2 (NF2) are generally monitored periodically for the development of associated tumors and other health problems. This may include an MRI of the brain and spinal cord; hearing and speech evaluations; and an eye exam.

The treatment of NF2 depends on the signs and symptoms present in each person. For example, vestibular schwannomas are typically slow-growing tumors so they may be observed for a period of time before treatment becomes necessary. When they begin to cause symptoms, vestibular schwannomas are usually treated with surgery and less frequently, with radiation therapy. Other tumors associated with NF2 are also treated surgically, although chemotherapy and/or radiation therapy may also be recommended in rare circumstances.

Hearing preservation and augmentation are also important in the management of people with NF2.

Medscape Reference's Web site offers more specific information on the treatment and management of NF2. Please click on the link to access this resource.

Last updated on 05-01-20

Name: Nerve Tumours UK 1st Floor 44 Coombe Lane
London, SW20 0LA, United Kingdom
Phone: 44(0)208 439 1234 Toll Free: 07939 046 030 (Helpline) Email: Url:
Name: Children's Tumor Foundation CTF 120 Wall Street, 16th floor
New York, NY, 10005-3904, United States
Phone: +1-212-344-6633 Toll Free: 1-800-323-7938 Fax : +1-212-747-0004 Email: Url:
Name: Neurofibromatosis Network 213 S. Wheaton Ave.
Wheaton, IL, 60187, United States
Phone: +1-630-510-1115 Toll Free: 1-800-942-6825 Fax : +1-630-510-8505 Email: Url:
Name: Tumour Foundation of BC 19172 Fourth Avenue PO
Vancouver, BC, V6K 4R8, Canada
Toll Free: 1-800-385-2263 Email: Url:
Ardem-Holmes S, Fisher G, North K. Neurofibromatosis Type 2 J Child Neuro. Jan 2017; 32(1). 9-22. Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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