what is nf2

what is nf2

1 year ago 54
Nature

Neurofibromatosis type 2 (NF2) is a genetic condition that causes tumors to grow along the nerves, particularly those in the skull and spine, though other nerves can be affected. The tumors are usually non-cancerous (benign) but may cause a range of symptoms. NF2 is caused by a change in the NF2 gene, which is found on chromosome 22. The NF2 gene regulates the production of a protein called merlin, which acts as a tumor suppressor, keeping cells from growing and dividing too rapidly or in an uncontrolled way. In people with NF2, this gene is impaired and creates a greater risk of developing certain tumors, including vestibular schwannomas (also called acoustic neuromas), meningiomas, ependymomas, and schwannomas.

Symptoms of NF2 usually become apparent during childhood, adolescence, early adulthood, or later in adult life. Almost everyone with NF2 develops tumors along the nerves responsible for hearing and balance, which usually cause symptoms such as hearing loss that gradually gets worse over time, hearing ringing or buzzing in the ears (tinnitus), and balance problems. Other symptoms may include problems with balance, problems with hearing, ringing in the ears, and benign skin tumors.

NF2 is considered to have an autosomal dominant pattern of inheritance, which means that people with this condition are born with one altered copy of the NF2 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent, while the remaining cases result from new variants in the NF2 gene and occur in people with no history of the disorder in their family.

If NF2 is suspected, further tests such as scans, hearing tests, sight tests, or blood tests may be recommended to assess whether the person has other symptoms or conditions associated with NF2. A thorough clinical evaluation and specialized testing are required to confirm the diagnosis of NF2. Treatment options for NF2 depend on the location and size of the tumors and may include surgery, radiation therapy, and medication.

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