What is nf1 and nf2

Hearing evaluations, including audiometry and a brain stem auditory evoked response BAER test, which is a test that detects electrical activity in the cochlea and auditory pathways. Screening recommendations may change over time as new technologies are developed and more is learned about NF2. It is important to talk with your health care team about appropriate screening tests. In some areas, comprehensive NF2 clinics may be available to help with coordination of medical care.

Learn more about what to expect when having common tests, procedures, and scans. The primary method of treating tumors associated with NF2 is surgery. At the same time, many people with this disease have tumors that grow slowly or not at all.

That means they can be closely monitored in an approach called watchful waiting, watch and wait, or active surveillance. In this approach, active treatment would begin if there are signs that the tumor could cause neurological problems, or the pattern of growth threatens brain or spinal cord function.

However, hearing will eventually be lost at some point. Surgery is usually done in people who can no longer hear or in those with a small tumor where a meaningful attempt can be made at preserving the nerve that makes hearing possible. In addition, focused radiation therapy is sometimes used for vestibular schwannomas. The other tumors seen in this disease are usually meningioma and ependymoma, and these types are typically removed only if they grow to an extent that they put enough pressure on the nearby brain or spinal cord to affect its functioning.

Reports of using bevacizumab Avastin , a drug that interferes with blood vessel formation to stop tumor growth, for treating vestibular schwannomas associated with NF2, have been encouraging. Although only a few people have been treated with this drug, the results include both measurable shrinkage of tumor and partial restoration of hearing loss in some, but not all, patients.

This is an experimental treatment and needs more testing, but it holds promise that other drugs may be proven effective as well. Talk with your health care team about this option, including the side effects of bevacizumab. In addition, you should ask about available clinical trials , which are research studies looking for new treatments. If you are concerned about your risk of cancerous and benign tumors, talk with your health care team.

It can be helpful to bring someone along to your appointments to take notes. Consider asking your health care team the following questions:. If you are concerned about your family history and think you or your other family members may have an NF2 mutation, consider asking the following questions:.

Should I consider genetic testing? The Genetics of Cancer. Genetic Testing. Collecting Your Family Cancer History. Neurofibromatosis Network. National Institute of Neurological Disorders and Stroke.

Acoustic Neuroma Association. National Cancer Institute. Neurofibromatosis 1 NF1 is usually diagnosed during childhood. Signs are often noticeable at birth or shortly afterward and almost always by age Signs and symptoms are often mild to moderate, but can vary in severity.

Neurofibromatosis 2 NF2 is much less common than NF1. Signs and symptoms of NF2 usually result from the development of benign, slow-growing tumors in both ears acoustic neuromas , which can cause hearing loss.

Also known as vestibular schwannomas, these tumors grow on the nerve that carries sound and balance information from the inner ear to the brain.

Signs and symptoms generally appear during the late teen and early adult years, and can vary in severity. Signs and symptoms can include:. Sometimes NF2 can lead to the growth of schwannomas in other nerves, including the cranial, spinal, visual optic and peripheral nerves. People who have NF2 may also develop other benign tumors. This rare type of neurofibromatosis usually affects people after age Symptoms usually appear between ages 25 and Schwannomatosis causes tumors to develop on the cranial, spinal and peripheral nerves — but rarely on the nerve that carries sound and balance information from the inner ear to the brain.

Tumors don't usually grow on both hearing nerves, so people who have schwannomatosis don't experience the same hearing loss as people who have NF2. See your doctor if you or your child develop signs or symptoms of neurofibromatosis. The tumors associated with neurofibromatosis are often benign and slow growing. Neurofibromatosis is caused by genetic defects mutations that either are passed on by a parent or occur spontaneously at conception. The specific genes involved depend on the type of neurofibromatosis:.

In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes autosomes. You need only one mutated gene to be affected by this type of disorder. The biggest risk factor for neurofibromatosis is a family history of the disorder. About half of people who have NF1 and NF2 inherited the disease from an affected parent.

People who have NF1 and NF2 and whose relatives aren't affected are likely to have a new gene mutation. The inheritance pattern for schwannomatosis is less clear.

Complications of neurofibromatosis vary, even within the same family. Generally, complications result from tumors that affect nerve tissue or press on internal organs. The pain caused by schwannomatosis can be debilitating and may require surgical treatment or management by a pain specialist. Neurofibromatosis care at Mayo Clinic. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission.

This content does not have an English version. Although schwannomatosis shares some clinical similarities with the other forms of NF, it is a separate disorder. Because NF2 affects the nervous system, the most complications involve problems related to vision, hearing, and balance.

Numbness or weakness in the face, arms or legs may also occur. However, there is no evidence that NF2 causes intellectual and learning disabilities, which are very common in individuals with NF1. Is there a difference between inherited NF2 and NF2 that occurs from a spontaneous mutation?

Aside from its origins, there is no difference between inherited NF2 and NF2 that was caused by a spontaneous mutation. NF2 is usually detected in early adulthood, with the average age of symptom onset being around 20 years.

Most NF2 tumors grow on the eighth cranial nerve. Located in the inner ear, the eighth cranial nerve is responsible for sending information on both sound and balance to the brain. Fortunately, there are surgical interventions that can preserve hearing. Visit our Treatment tab to learn more about these options.

A diagnosis of NF2 comes with a lot of questions and concerns, for both patients and their families. During your initial appointments with the doctor, it can be easy to become overwhelmed with information and forget what you wanted to ask. Many parents and young adults find it helpful to write down questions beforehand or jot them down as they arise. That way, when you talk to the doctors, you can be sure that all of your concerns are addressed.

For Patients. Contact the Multidisciplinary Neurofibromatosis Program. For NF 1 For NF 2 What is NF2? The most common types of tumors associated with NF2 are: Vestibular schwannoma : also called an acoustic neurom a, a vestibular schwannoma is a benign non-cancerous tumor that develops on the eighth cranial nerve a nerve in the inner ear responsible for hearing and balance.

Meningioma : usually benign, a meningioma is a type of tumor that develops from the meninges the membrane that surrounds the brain and spinal cord. Meningiomas may cause seizures , hemiparesis weakness on one side of the body , changes in vision and headaches that worsen over time.