Neurofibromatosis Type 2

Also called: NF-2, NF2, bilateral acoustic neurofibromatosis, central neurofibromatosis, familial acoustic.

Neurofibromatosis type 2 (NF2) is a rare genetic disorder that can be passed down from parents to their children (inherited) and affects the nervous system. People with NF2 have a higher risk of developing tumors along their nerves, especially in places like the inner ear, brain, skull, and spinal cord. These tumors are usually non-cancerous (benign) but can affect how well the nerves work. Sometimes they become cancerous (malignant).

Cancer risk with neurofibromatosis type 2

Nearly all people with NF2 develop some type of tumor within the nervous system. These tumors usually develop along nerves in the brain and spinal cord. Sometimes they develop in other parts of the body. The tumors are almost always noncancerous. Often, they must be removed because they can cause problems.

In some cases, the tumors may change and behave like cancers. Doctors do not know the exact risk of the tumors becoming cancerous because it is uncommon.

Acoustic neuroma (vestibular schwannoma)

The most common type of tumor in people with NF2 is acoustic neuroma (also known as vestibular schwannoma). This kind of tumor develops along the nerve that carries information from the inner ear to the brain (the auditory nerve). In patients with NF2, these tumors usually develop on both auditory nerves around age 18–24 years, and they can affect a person’s ability to hear. Almost all patients with NF2 develop acoustic neuroma on both sides by age 30.

Other nervous system tumors

People with NF2 can develop tumors in other parts of their nervous system, such as:

• Meningiomas: tumors that form on the membranes around the brain and spinal cord
• Ependymomas: tumors that form in the cells of the brain or spinal cord that normally make fluid
• Astrocytomas: tumors that form in the supportive tissue of the brain or spinal cord
• Retinal hamartomas: tumors that form in the back of the eye

Cataracts and other eye problems are also common in people with NF2.

Symptoms of neurofibromatosis type 2

NF2 can affect many areas of the body. Tumor growth and irritated, damaged nerves can cause many symptoms. People with NF2 may have some or all of these symptoms:

• Hearing loss
• Ringing in the ears (tinnitus)
• Dizziness
• Headache
• Seizures
• Trouble with balance
• Poor vision or blindness
• Squinting of 1 or both eyes
• Trouble controlling face muscles
• Problems lifting the hands or feet

In families who have NF2, the disease often develops the same way. Family members may have similar symptoms.

Causes of neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is caused by changes in the NF2 gene that make it not work correctly. The NF2 gene carries information that helps control how and when cells grow, divide, and die.

How neurofibromatosis type 2 is inherited

Children without this disorder carry 2 normal copies of the NF2 gene in their cells. One copy is inherited from the child’s mother, and the other comes from the child’s father.

Children who have neurofibromatosis type 2 inherit 1 normal copy of the NF2 gene and one copy that is changed (mutated). This NF2 mutation makes the gene not work correctly. As a result, it is harder for cells to control their growth and function.

About 50% (1 in 2) of children with neurofibromatosis type 2 inherit the NF2 gene mutation from a parent who also has this disorder. The other 50% (1 in 2) of children with this disorder have a new NF2 mutation that did not come from a parent. These children have no history of the syndrome in their family. In such cases, an NF2 gene mutation happened either in:

• An ovum (egg) or sperm that formed the child
• 1 of the child’s cells before they were born

These children are the first in their families to have neurofibromatosis type 2.

Mosaic neurofibromatosis 2

About 25 to 30 % of children with no family history of NF2 have mosaic neurofibromatosis 2 (sometimes called segmental neurofibromatosis 2). “Mosaic” means a mixture.

A child with mosaic neurofibromatosis type 2 inherits 2 normal copies of the NF2 gene. One copy is from the mother. The other copy is from the father. But early in development, before the person is born, 1 copy of the NF2 gene becomes mutated (changed) within one cell of the developing baby. That cell keeps growing and dividing, making many more cells. All the cells that grow from that early cell will have the mutated copy of the NF2 gene. Other cells did not grow from the 1 mutated cell will have 2 normal copies of the NF2 gene. That is why it is called mosaic NF2; the person’s body is a mixture of normal cells and mutated cells.

With mosaic neurofibromatosis type 2, it is hard to know which cells have the NF2 mutation. In this case, it is not possible to predict the exact risk of passing the NF2 mutation on to future children. The risk is up to 50% (1 in 2) chance of passing the NF2 mutation to each child

Children with mosaic neurofibromatosis type 2 generally only have features of the condition in the areas of the body that contain the NF2 mutation.

Diagnosis of neurofibromatosis type 2

Health history

A health care provider may suspect that your child has NF2 after studying their medical and family cancer history.

This information helps the health care provider and the genetic counselor know if:

• There are more cancers than normal in your family
• These cancers happened at a younger age than expected
• The types of tumors are those seen with NF2
• There are family members who have clinical signs of NF2

If your doctor or genetic counselor may recommend genetic testing if they suspect NF2.

Learn more about types of genetic tests. 

Genetic testing for neurofibromatosis type 2

A blood sample is sent to a genetic testing lab. The lab will run a special type of genetic test, called next generation sequencing that looks for changes in the NF2 gene.

If your child has an NF2 mutation, a genetic counselor will work with your family to:

• See if other family members should consider testing for an NF2 mutation
• Help your family understand their increased cancer risk of having NF2
• Give you information to help with your decisions about prenatal genetic testing

Genetic testing can detect a mutated NF2 gene in about 90–95% of people with a clinical diagnosis of NF2 and no family history of the condition.

There may be other genes or types of mutations causing this condition that health care doctors do not yet know about. So, a person can still have NF2 even if no NF2 mutation is found.

People who are mosaic NF2 may not have a mutation in NF2 in their blood cells, but they could be a mosaic NF2. They could have mutated cells in another part of their body.

Confirming a clinical diagnosis of neurofibromatosis type 2

If a person does not have a family history of NF2, having any 1 of these confirms their clinical diagnosis of NF2:

• Vestibular schwannoma tumors on both sides (bilateral)
• Vestibular schwannoma tumor on 1side (unilateral), plus any 2 of the following:
  • Meningioma
  • Schwannoma
  • Glioma
  • Neurofibroma
  • Cataract
• Multiple meningiomas, plus 1of the following:
  • Unilateral vestibular schwannoma
  • Any 2 of these: schwannoma, glioma, neurofibroma, or cataract

If a person does have a family history of NF2, having any 1 of these confirms their clinical diagnosis of NF2:

• Vestibular schwannoma (unilateral or bilateral)
• Any 2 of these: meningioma, schwannoma, glioma, neurofibroma, or cataract

Genetic testing before or during pregnancy

Parents may choose to do prenatal testing to find out if a pregnancy is affected with a known NF2 mutation. Testing may take place either before pregnancy occurs or during pregnancy.

You should work with a genetic counselor to review the pros and cons of the test. The genetic counselor can also help you prepare for the test results.

Testing before pregnancy is called preimplantation genetic testing (PGT). This special type of genetic testing is done along with in vitro fertilization (IVF). PGT tests embryos for a known NF2 mutation before a doctor places the embryo into the uterus.

Testing during pregnancy can help doctors see if a pregnancy has a known NF2 mutation. A doctor gathers cells from the pregnancy in 1 of 2 ways:

• Chorionic villus sampling (CVS) is done during the first 3 months of pregnancy (1st trimester).

• Amniocentesis is done after the first 3 months of pregnancy (2nd trimester or later).

After tissue collection, the lab checks the sample for a mutation in NF2. Both tests carry minor risks. Discuss risks with an experienced health care provider or a genetic counselor.

Special concerns for genetic testing

Take time to think carefully about the benefits and risks of genetic testing. Speak with a genetic counselor before testing. If you decide to get tested, talk with your health care provider or a genetic counselor about your results so you can understand what they mean.

Sometimes, children or adults with NF2 feel sad, anxious, or angry after getting their test results. Parents may feel guilty if they pass the NF2 gene mutation to 1 or more of their children. People with the NF2 gene mutation may also have trouble getting disability or life insurance.

Read more about genetic discrimination.

Diagnosis of neurofibromatosis type 2 without genetic testing

A diagnosis of NF2 can be made with or without genetic testing. Genetic testing can be offered to people who have signs and symptoms of NF2 to confirm the diagnosis.

Monitoring and follow-up care for neurofibromatosis type 2

Monitoring and follow-up care for NF2 depends on how severe the disease is, the location of any tumors that may arise, and a person’s overall health. Care may involve managing symptoms and surgical removal of any tumors or cancerous tissues. It may also include other treatments, like chemotherapy, to fight any cancers that may develop.

Because NF2 is a complex condition is a complex condition, parents should discuss screening options for their child with an experienced doctor who knows this condition well. The goal of screening is to find and treat tumors early. Doing so allows the best outcome for patients. There are clinics throughout the country that specialize in taking care of people with NF2.

It is also important that parents work with a genetic counselor to find experienced doctors for their child. To find a genetics counselor in your area, visit Personalized Care for Your Genetic Health.

Cancer screening for neurofibromatosis type 2

Although most of the tumors related to NF2 are not cancerous, people with the condition should be monitored for the development of tumors in case they do become cancerous. Some non-cancerous tumors can cause problems, such as loss of hearing or nerve damage. It is also important for doctors to carefully monitor tumors for signs that have become cancerous. Early screening and detection allow the best outcome for patients.

The following screenings are recommended for children with NF2:

• Yearly physical exams by a doctor who knows the condition well
• Yearly MRI scan of the brain starting at 10 years of age
• MRI scan of the spine starting at 10 years of age and repeated every 2–3 years
• Yearly vision screening by an ophthalmologist (eye specialist) starting at the time of diagnosis
• Yearly hearing evaluation by an audiologist starting at the time of diagnosis

These recommendations may change over time as doctors learn more about NF2.

Living with neurofibromatosis type 2

People of any age with NF2 have a higher risk of cancer than people without NF2. These people should monitor their health and adopt healthy habits throughout life. It is important to continue to have regular physical check-ups and screenings. That way, any cancer can be found early at the most treatable stage.

Maintain a healthy lifestyle

Habits that will help you maintain a healthy lifestyle include:

• Eat a healthy diet with lots of fruit and vegetables.
• Get regular exercise.
• Avoid excess sun exposure. Always wear a hat, protective clothing, and sunscreen (SPF 30 or higher) when out in the sun.
• Avoid unnecessary radiation exposure.
• Avoid smoking or the use of tobacco products.
• Avoid being around secondhand smoke.
• Avoid excessive alcohol use.

Neurofibromatosis type 2 care at St. Jude

The St. Jude Cancer Predisposition Program is dedicated to diagnosing and screening children with a genetic predisposition for cancer. Our program offers the best clinical care possible. We engage in cutting-edge research to gain more information about genetic disorders and cancer, and to improve the care and treatment for patients who are affected by these conditions. Learn more about the Division of Cancer Predisposition at St. Jude.

Our genetic counselors, clinicians, genetics nurse practitioners, and research assistants work together to provide patients with:

• A complete health history
• A record of cancer that happened over the past 3 generations (family tree or pedigree) to see how diseases were passed down
• Physical exams to check for genetic disease
• Confidential genetic counseling and testing
• Cancer screenings for those with genetic disease to detect and treat cancer as soon as it occurs
• Recommended cancer treatments and ways to reduce cancer risk
• Genetic testing for immediate (1st degree) relatives

NF2 increases your child’s risk for tumors and certain cancers.

Related clinical trials

St. Jude offers clinical trials and cancer research studies for children, teens, and young adults who have cancers associated with NF2. 

Learn more about clinical research at St. Jude. 

If you have questions about the Genetic Predisposition Clinic and care for NF2, email our team at GPTeam@stjude.org.

Resources outside St. Jude