Neurofibromatosis 2

Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with NF2 are vestibular schwannomas, which affect the nerve that carries sound and balance information from the inner ear to the brain. Individuals with NF2 may also develop other types of tumors, including meningiomas (tumors in the membranes covering the brain and spinal cord), ependymomas (tumors in the lining of the ventricles of the brain and the central canal of the spinal cord), and schwannomas (tumors of the peripheral nerves).

Symptoms

Symptoms of NF2 can vary significantly among individuals but often include hearing loss, ringing in the ears (tinnitus), poor balance, and headaches. Symptoms typically begin in the late teens or early adulthood. The severity and types of symptoms can vary widely among affected individuals, depending on the size and location of the tumors.

Causes

NF2 is caused by mutations in the NF2 gene, which provides instructions for making a protein called merlin (also known as schwannomin). This protein acts as a tumor suppressor, which means it helps control cell growth and prevents cells from growing too rapidly or in an uncontrolled way. Mutations in the NF2 gene lead to the production of a nonfunctional version of merlin, allowing cells to grow uncontrollably and form tumors.

Diagnosis

Diagnosis of NF2 is based on clinical criteria and can be confirmed with genetic testing. The criteria include the presence of vestibular schwannomas on both sides of the head or a family history of NF2 plus certain other tumors or symptoms. Magnetic resonance imaging (MRI) is commonly used to detect tumors in the brain and spinal cord.

Treatment

There is no cure for NF2, but treatments are available to manage symptoms and control the growth of tumors. Treatment options may include surgery to remove tumors, radiation therapy, and medications to control symptoms. The choice of treatment depends on the size and location of the tumors, as well as the patient's overall health and preferences.

Prognosis

The prognosis for individuals with NF2 varies. The disorder is progressive, meaning that the number and size of tumors can increase over time. However, with careful monitoring and treatment, many people with NF2 can lead active and productive lives.

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