The prevalence of neurofibromatosis type 2 (NF2) in the general population is estimated to be around 1 in 60,000 people worldwide and approximately 1 in every 33,000 babies is born having NF2.
As of 2019, high-risk populations for neurofibromatosis type 2 have not been identified.
Carrier rates are not applicable for neurofibromatosis type 2 as it is an autosomal dominant condition.
Frequently Asked Questions About Neurofibromatosis, type II
Why do mutations in the NF2 gene cause Neurofibromatosis Type II?
Everyone has two copies of the NF2 gene. When this gene is working properly it is responsible for making a protein called merlin. The merlin protein plays an important role in the nervous system because it is made by schwann cells. Schwann cells are a special type of cell that wraps around nerves to help them function; much like insulation around wiring. This is why the merlin protein is sometimes called schwannomin. Merlin also interacts with the body’s support structure for cells called the cytoskeleton and helps keep cells from dividing out of control. This means that the NF2 gene falls into a very specific category called a tumor suppressor genes. There are many other tumor suppressor genes, and whenever these genes are not functioning properly, tumors can develop. Because of its role as a tumor suppressor gene, and because of it is location in nerve cells, it is easy to see why mutations in NF2 can cause a person to develop various kinds of nerve cell tumors which are the hallmark feature of this condition.
Who else in my family should I test for NF2?
If a parent has Neurofibromatosis Type II (NF2) that has been confirmed through genetic testing, then their first degree relatives, which include their children and their siblings, all have a 50% chance of also carrying the same NF2 mutation. The exception to this is when a person has a mosaic form of NF2, which is also called segmental NF2. Mosaic NF2 means a person has a mutation in the NF2 gene, but it is not present in every single cell of their body, so it may not be present in the egg or the sperm. If a person’s NF2 mutation is not present in their germ cells (egg or sperm), then they cannot pass that mutation onto their children. It is not possible to test all egg and sperm to know what this risk is. So patients in this situation are counseled that the risk of having a child with NF2 is as high as 50% but it could be lower or even zero.
Also, it is well known that NF2 can have a wide range of symptoms and a wide range of ages when symptoms start. Symptoms like cataracts can be present at birth, where there are other cases where a patient doesn’t show symptoms until 70. However, on average, most people show some feature between 18 and 24. Given this age range, and because screening for NF2 tumors starts in childhood, genetic testing for familial mutations is recommended at a younger age. Also, there is a lot of variability in disease presentation, even between members of the same family.
To learn more about genetic testing and who else may be at risk to have NF2 in a family it can be helpful to talk with a genetics professional. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.
Who else in my family should have testing for Neurofibromatosis Type II?
Because Neurofibromatosis Type II (NF2) is an autosomal dominant condition, the siblings and children of a person with NF2 have as much as a 50% chance of also having NF2. However, this is not always the case. About half of the time, a person with NF2 is the first person in their family to have a mutation. This is called a de novo, or new mutation. When this happens, any future children of the person diagnosed will have a 50% chance of inheriting the NF2 mutation, but the parents and siblings would not be at risk.
Another scenario that can change who in the family might need testing is called mosaicism. When people are born with a genetic mutation, that mutation is typically present in every cell of their body. Of those with a de novo NF2 mutation, between 25-30% have a mutation that is mosaic, meaning the mutation is not present in every cell of their body, only some cells. Mosaicism can make testing difficult because it can be impossible to know which cells in the body might have the mutation and which cells do not. For example, most often, genetic testing is done on blood cells called leukocytes. But, if the DNA in the leukocytes does not show a mutation in the NF2 gene, it could be because that mutation is present in other cells, like nervous system cells, and is still causing the features of NF2 in those cells. In these cases, when a person’s symptoms or features are still very suspicious for NF2, but the blood DNA testing does not find a mutation, it is possible to test a person’s tumor for NF2 mutations. It can also be a challenge to figure out what the risks are for the children of a person with a mosaic form of NF2, which can also be called segmental NF2. This is because the egg or sperm cells of the parent, may not carry the mutation. Because a negative blood DNA test can be misleading, it is very important for anyone who has features of NF2 to meet with a physician or genetic counselor who has expertise in this condition and can properly explain these types of test results so nothing is missed.
A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.
Where do I find other people with NF2?
The best resource available for patients to connect with others who have NF2 is the Children’s Tumor Foundation. The CTF has regional representatives who can help connect patients and families with resources in their area. They have a chapter in every state in the US, and to get more information you can go to their website.
What specialist doctors should I see with Neurofibromatosis Type II?
Neurofibromatosis Type II (NF2) is a complex disorder that can affect many parts of the body and have different health impacts throughout a person’s life. Because of the complexity of NF2, patients benefit most from working with a medical team who has expertise in the condition. This team often includes a medical geneticist and/or genetic counselor to help with a diagnosis of NF2, discussion of genetic testing options and results, review of how NF2 might affect other family members or future children and to provide an overview of the different medical providers that might be involved with the patient over time. The tumors that form in patients with NF2 are in the central nervous system, so these patients should also have a specialist in neurology as part of their team. Surgery is a part of life for those with NF2, and often times more than once. Therefore surgeons specially trained in neurology or ear, nose, and throat must be involved due to the high risk of complications. Therapists (physical and occupational) along with audiologists and ophthalmologists will also be involved with the patient to help with rehabilitation, balance issues and to monitor vision and hearing.
What is the usual abbreviation for Neurofibromatosis Type II?
The abbreviation used for Neurofibromatosis Type II is NF2. This is also the same name as the gene that causes the condition. Usually, genes are italicized, so if a patient is reading an article that shows NF2 in italics, it is most likely referring to the gene.
What is the treatment for Neurofibromatosis Type II?
Not everyone with Neurofibromatosis Type II (NF2) receives the same treatment. Treatment for NF2 depends on the symptoms a person has a certain time. People may benefit from different treatments at different times in their life. One common issue for people with NF2 is balance problems. Balance issues can be treated with physical and occupational therapy. Hearing loss is very common in NF2 and while it is not reversible, there are ways to assist hearing like cochlear implants, hearing aids and brain implants. Additionally, learning sign language or other assisted communication can help after hearing loss. In some cases, people with NF2 might learn these things before they lose their hearing so they can continue to communicate. Surgery can be used to remove some tumors that develop with NF2, however because the places these tumors form like the spine, brain, ear and eye are very important, surgery is not always possible or beneficial. There are clinical trials going on to try and learn more about potential drug therapies and medications to help people with NF2. ClinicalTrials.gov is a website with great information about up and coming research studies for NF2. It can be found here
What is the life expectancy for someone with Neurofibromatosis Type II?
There is a wide range of symptoms and health problems for people with Neurofibromatosis Type II (NF2). Although the tumors are not cancerous, their location and number can lead to increased risk for serious health issues and decreased life expectancy. Survival is improving with earlier diagnosis and better treatment in specialty centers. Older research showed that people diagnosed before the year 1990 on average lived another 15 years. However, because of medical advances and the creation of centers specializing in caring for people with NF2, life expectancy can be into the 60’s. The earlier someone is diagnosed with NF2, the higher the likelihood of living longer if they are able to access quality care.
What is Neurofibromatosis Type II?
Neurofibromatosis Type II, also called NF2, is a genetic condition that causes a person to develop tumors in their nervous system. Most of the time these tumors are benign, meaning they don’t have the potential to spread throughout the body, however they can still cause health problems and be life-threatening depending on where they are located.
The most common type of tumor seen in people with NF2 forms on one of nerves of the brain called the Vestibulocochlear nerve. This nerve is also called cranial nerve VIII or the eighth cranial nerve. Its two functions are helping with balance and sending messages from the ear to the brain. These tumors are called vestibular schwannomas because they affect balance and hearing. Another name for these tumors are acoustic neuromas since they affect our hearing.
Because we have two ears, we also have two sets of eighth cranial nerves. When someone has NF2 they usually develop a vestibular schwannoma on both of their auditory nerves by the time they reach their 30’s, and often develop one of these tumors by their 20’s. People with NF2 often develop hearing loss in at least one ear but sometimes both ears as a result of these tumors. NF2 can also cause other types of tumors called meningiomas, ependymomas and astrocytomas to form in the tissue around the brain and spinal cord. Another type of tumor called a retinal hamartoma can form in the back of the eye and cause vision problems. People with NF2 can also have balance problems and seizures. A small percentage of people with NF2 can go blind or develop cataracts which can also affect vision.
What is Neurofibromatosis Type II most often called by doctors?
Neurofibromatosis Type II is most commonly called NF2 by both doctors and patients. Sometimes, just the term Neurofibromatosis might be used. This does not necessarily refer to NF2 because there is another condition called Neurofibromatosis Type I, or NF1, that is different from NF2, even though the names sound similar. In fact, people with NF1 are far more likely to develop neurofibromas, a type of nerve tumor, than people with NF2 are. So if a patient is reading information about NF1 or just "neurofibromatosis" they should be careful because it might be discussing a different condition.
What is mosaicism and how does it affect people with Neurofibromatosis Type 2?
When people are born with a genetic mutation, that mutation is typically present in every cell of their body. About half of people diagnosed with Neurofibromatosis Type 2 (NF2) have a mutation that was not inherited from one of their parents, but occurred new in them, which is called a de novo mutation. Of those with a de novo NF2 mutation, between 25-30% have a mutation that is mosaic, meaning the mutation is not present in every cell of their body, only some cells. Mosaicism can make testing difficult because it can be impossible to know which cells in the body might have the mutation and which cells do not. For example, most often, genetic testing is done on blood cells called leukocytes. But, if the DNA in the leukocytes does not show a mutation in the NF2 gene, it could be because that mutation is present in other cells, like nervous system cells, and is still causing the features of NF2 in those cells. In these cases, when a person’s symptoms or features are still very suspicious for NF2, but the blood DNA testing does not find a mutation, it is possible to test a person’s tumor for NF2 mutations. It can also be a challenge to figure out what the risks are for the children of a person with a mosaic form of NF2. This is because the egg or sperm cells of the parent, may not carry the mutation. Because a negative blood DNA test can be misleading, it is very important for anyone who has features of NF2 to meet with a physician or genetic counselor who has expertise in this condition and can properly explain these types of test results so nothing is missed.
To learn more about mosaicism it can be helpful to talk with a genetics professional. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.
What gene change causes Neurofibromatosis Type II?
Neurofibromatosis Type II (NF2) is caused by a harmful change, also called a mutation, in a gene that is also called NF2. NF2 is considered a dominant condition which means that even though everyone has two copies of their NF2 gene, only one copy needs to be mutated in order for a person to have NF2. There is no other gene that is known to cause NF2. Currently, it is believed that anyone who carries a mutation in the NF2 gene will develop features of the condition at some point during their lifetime, however, the condition can be very different among different people. Some people are more mildly affected and may live several decades before developing any symptoms and other times symptoms can develop in early childhood. It is not totally understood why this happens, although there has been research that shows that the particular way a person’s DNA is disrupted or mutated may help predict when they will show symptoms or how severe their features will be. This is still being studied.
What are the main symptoms of Neurofibromatosis Type II?
The most common physical symptom found in a person with Neurofibromatosis Type II (NF2) is hearing loss. This is because the most common tumors seen in people with NF2, called vestibular schwannomas, affect the nerve that sends signals from the brain to the ear. These tumors can occur in both ears, so total hearing loss can happen although most of the time hearing loss is only in one ear. Tinnitus, which means ringing in the ears, is another common symptom of NF2. Balance can also be affected because the inner ear plays an important role in helping us stay balanced and this can be disrupted by tumors. Another type of tumor called a meningioma develops in anywhere from 50 to 80% of people with NF2. These can happen in the brain or spinal cord. If a meningioma forms near the optic nerve it can cause loss of vision, although total blindness only happens in about 1% of people with NF2. Cataracts, clouding of the lens that limits vision are normally related to aging but can be seen in children and even babies with NF2.
What are the first steps after an initial diagnosis of Neurofibromatosis Type II?
After a diagnosis of Neurofibromatosis Type II (NF2) is normal to have many questions. The Children’s Tumor Foundation is a non-profit dedicated to helping patients and families with neurofibromatosis (which include NF1 and schwannomatosis as well). They have a page on their website with good information and resources for newly diagnosed patients.
Most of the time, there are two parts to management of NF2. Surveillance for tumors and treatment of tumors that have already developed. If a person does not have any health problems due to NF2 related tumors, they may not need any immediate treatment. Other newly diagnosed patients might undergo surgery. Surveillance, or screening, is usually an MRI every year and a hearing evaluation.
My child has NF2. Will others in the family have it?
Because Neurofibromatosis type 2 (NF2) is inherited in an autosomal dominant inheritance pattern, it means that every first degree relative of an affected individual has a 50% chance of also having it. First degree relatives are siblings, children, and parents. Second degree relatives should have testing after first degree relatives are all tested. in a specific example, let’s say 27-year-old Andrea has been diagnosed with NF2. Andrea has 3 children. EACH of her children has an individual 50% chance to also have it. Andrea has 2 siblings: one brother and one sister. EACH of her siblings has an individual 50% chance to also have it. Andrea’s mother has testing and is negative. This means that Andrea’s mothers side of the family does NOT need to have any more testing. Andrea’s father has testing and is positive. Each of Andrea’s father’s siblings should have testing as well, because they have an individual 50% chance of being positive as well.
To learn more about genetic testing and the way in which NF2 is passed down in a family it can be helpful to talk with a genetics professional. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.
Is there newborn testing for Neurofibromatosis Type II?
There is no newborn testing that diagnoses Neurofibromatosis Type II (NF2) besides genetic testing. NF2 is not a condition that is included on the newborn screening panel that babies undergo before leaving the hospital. However, in rare cases, a newborn with NF2 may be born with cataracts (congenital cataracts), which is a clouding of the lenses of the eye. Symptoms of congenital cataracts can include gray cloudiness of the black part of the pupil, rapid eye movements (nystagmus), and an infant who doesn’t respond to the outside world. Another clue that a newborn might have congenital cataracts is if they do not have "red eye" in photographs when others do, or they only have it in one eye. If congenital cataracts are diagnosed, the child may be watched closely by an eye doctor if no treatment is necessary, or they may have surgery to remove the cataracts.
Is there more than one test for Neurofibromatosis Type II?
There are two different ways to diagnose Neurofibromatosis Type II (NF2). One way is through a set of criteria developed by the National Institute of Health (NIH) that take into account certain types of tumors a person may have been diagnosed with and whether or not they have a family member with NF2.
The other way to diagnose NF2 is through genetic testing. Most of the time, a person with NF2 has a mutation in the NF2 gene. Other times there can be other types of changes to a person’s chromosome that can disrupt the NF2 gene and cause NF2.
It is possible to be diagnosed with NF2 even if no mutation is found through genetic testing. Because a diagnosis of NF2 is complex, it is important for anyone who suspects they may have the condition should meet with a specialist in genetics like a medical geneticist or genetic counselor. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.
Is there clinical research going on for Neurofibromatosis Type II (NF2?)
Currently, there is a lot of research going on that could benefit patients with Neurofibromatosis Type II (NF2). Some of this research is very specific to NF2, other research is looking at treatments for tumors that people with NF2 and people without NF2 might develop. Not all research is related to treatment. Sometimes research is used to study the best way to detect tumors in people with NF2, for example the National Institute of Health sponsored a study looking at how useful special types of imaging called PET scans are for measuring tumor growth in patients with NF2.
ClinicalTrials.gov is a website with great information about up and coming research studies for NF2. It can be found here
Is there anything that can make Neurofibromatosis Type II worse?
Everyone who has a mutation in the NF2 gene will develop some features of Neurofibromatosis Type II (NF2) in their lifetime. There are currently no known treatments that totally prevent the growth of nerve tumors which is the hallmark feature of NF2. However, it is recommended that children with NF2 strongly consider avoiding radiation therapy to treat their tumors. Radiation therapy is an option for the treatment of many types of tumors including those that are benign and those that are cancerous (aka, malignant). However, research has shown that NF2 tumors treated with radiation have a higher chance of becoming cancerous. Therefore, they are usually treated with surgery but not with radiation. It is important to talk to an expert in NF2 before any treatment so that the pros and cons of all treatments can be discussed.
Is there a cure for Neurofibromatosis Type II?
Currently there is no cure for Neurofibromatosis Type II (NF2). If a person is diagnosed with NF2 they should be followed by a doctor who has expertise in this particular condition. There are different treatments available depending on the particular issues or symptoms a person might be experiencing.
Is NF2 more common in people from certain countries?
NF2 has no ethnic or racial predilections, and there is no data showing that it is more common in some parts of the world over others.
Is it safe for women with NF2 to get pregnant?
There is no physical reason that a woman with Neurofibromatosis Type II (NF2) cannot have a baby. There are a few special considerations a woman considering pregnancy might want to think about. The most common type of tumors in people with NF2 are vestibular schwannomas and there is no evidence that pregnancy affects these tumors. However, there is some research that shows pregnancy can affect the growth of another more dangerous type of tumor called a meningioma. Meningiomas grow in the brain and can be slow growing and not cause symptoms, or they can grow quickly. For reasons that are not totally understood, meningiomas seem to grow more quickly during pregnancy. This could be related to hormones or increased blood flow. If these tumors begin growing quickly they can threaten the life of the mother in some cases if they interfere with brain function. Women with NF2 who are of child-bearing age who are sexually active could consider birth control so they are able to plan their pregnancies in order to have the best outcomes for the mother and the baby.
Is it possible for two parents who do not have Neurofibromatosis Type II to have a child with NF2?
Neurofibromatosis Type II (NF2) is due to mutations, or changes, within the NF2 gene. A little more than half of the time when a person has an NF2 mutation it was not passed down from one of their parents. These mutations, that are new in a person, are called de novo mutations. People with de novo NF2 mutations have one broken, or mutated copy of NF2 and one working copy of NF2. A person born with a de novo mutation is very likely to be the first person in their family to have NF2 because the mutation was not passed down from their parents. So, it is possible for two parents who do not have NF2 to have a child who has NF2.
To learn more about genetic testing and who else may be at risk to have NF2 in a family it can be helpful to talk with a genetics professional. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.
Is facial paralysis from NF2 reversible?
Facial paralysis, often on one side, is a common and very difficult part of life with NF2 for many patients. This paralysis is caused by the tumors that can grow on facial nerves. Historically, facial paralysis was not treated by doctors. This "frozen smile" can be emotionally difficult and disfiguring for patients. There is a surgery that involves transfer of facial muscles that has had successful results, however these studies were on very small numbers of patients. Also, like many aspects of NF2, there is no one treatment that is going to help every person. Speaking to a neurologist about surgery to manage paralysis as well as physical therapy to help adapt to this issue is the best way for patients to get appropriate information for their particular case.
Is everyone with NF2 deaf?
Many people with Neurofibromatosis Type II (NF2) do develop some sort of hearing loss. This is a result of a certain type of tumor called a vestibular schwannoma that forms on the nerve that connects the ear to the brain. In some cases these tumors can be removed, but in other cases due to their location, they cannot be removed. For some patients, the hearing loss they experience is a result of the surgery removing these tumors because the nerves are very easily damaged. Many people with NF2 may lose hearing in one ear but not both. Some people do lose hearing in both ears. Most of the time, hearing loss is gradual because these tumors are very slow growing. For about 1 in 3 people with NF2, hearing loss in one ear is the first symptom they experience.
Is a person with Neurofibromatosis Type II at an increased risk for cancer?
People with Neurofibromatosis Type II (NF2) have an increased risk of developing different types of nerve cell tumors. These tumors are considered benign, meaning they do not have the potential to spread throughout the body. However, benign tumors can still cause major health problems and can be life-threatening so they still need to be managed by an expert team of doctors. There have been cases of people with NF2 developing cancerous tumors however. These cases are rare and the exact risk is unknown. There is some research that shows benign tumors associated with NF2 that are treated with radiation therapy might have a higher than average chance of becoming cancerous. Again, this is very uncommon and it isn’t known exactly how often this happens. However, because of this, the benefits and risks of using radiation to treat NF2 related tumors should always be discussed.
If I have a variant of unknown significance do I still have NF2?
Any time a person is undergoing genetic testing there is always a chance that the testing result will come back inconclusive. This is usually called a variant of unknown significance, or a VUS. A VUS is not the same thing is a mutation. A mutation is a change in a gene that prevents the gene from functioning and can lead to disease. A VUS is a change in a gene whose effect is not known. In most cases, over time a VUS can be re-classified, meaning more information about the particular genetic change is learned and the laboratory is able to determine whether the change contributes to a condition, or whether it is a benign change. If a person undergoes genetic testing for NF2 and the result is a VUS, their doctor could still diagnose them with NF2 based on the symptoms they have shown. Because of the chances of receiving unclear genetic testing results, anyone who is thinking about genetic testing should meet with an expert in genetics like a medical geneticist or a genetic counselor.
A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.
How is Neurofibromatosis Type II inherited?
Neurofibromatosis Type II (NF2) is due to mutations in the NF2 gene. It is considered an autosomal dominant condition. Since we all have two copies of every gene in our body, we all have two copies of the NF2 gene. This means that when a person has NF2, one of their NF2 genes is mutated and one of their NF2 genes is working. When a person has an autosomal dominant condition there is a 50% chance that each of their children will also have the same condition, and a 50% chance they will not. Also, because it’s "autosomal," the condition can affect both men and women. Autosomes are chromosomes that both men and women carry, versus the sex chromosomes that determine our gender.
A little more than half of the time when a person has an NF2 mutation it was not passed down from one of their parents. These mutations, that are new in a person, are called de novo mutations. A person born with a de novo mutation is very likely to be the first person in their family to have NF2. However, since they carry a mutation, there is still the same chance, 50%, than their children will have NF2.
To learn more about genetic testing and the way NF2 can be passed down in a family it can be helpful to talk with a genetics professional. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.
How do I get testing for Neurofibromatosis Type II?
Anyone considering genetic testing for Neurofibromatosis Type II (NF2) should meet with an expert in the condition who understands both NF2 and genetics. The Children’s Tumor Foundation has a list of clinics specializing in NF2. Additionally, a genetic counselor can be good resource to help patients connect with the right specialists. The National Society of Genetic Counselors has a search tool on their website.
How do I find clinical research on Neurofibromatosis Type II?
The best way to find out about research into NF2 is to go to clinicaltrials.gov, which is where all government-funded clinical trials are listed. Other websites that have research information are the National Institute of Neurological Disorders and Stroke (NINDS), The Neurofibromatosis Network, or the Children’s Tumor Foundation. All of these sites are very good sources of information on research opportunities. Research is constantly evolving so it is important to check these sites fairly often or talk to your doctor about new research opportunities.
How do I find a center of excellence in Neurofibromatosis Type II?
The Children’s Tumor Network has an extensive list of clinics specializing in Neurofibromatosis Type II (NF2). This list includes over 50 clinics around the country and is organized by state. Another patient advocacy organization called NF2 Advocure has another list of specialty clinics as well. The organization NF2 IS has also created a list of clinics that have experts in NF2. Compared to other genetic conditions, NF2 is common enough that there are a fairly large number of centers around the country and internationally that have experts who can help patients and families.
How do doctors diagnose someone with Neurofibromatosis Type II?
There are two different ways a person can be diagnosed with Neurofibromatosis Type II (NF2). One way is through genetic testing. If a doctor suspects a person has NF2, they can order genetic testing to look for mutations in the NF2 gene. If a mutation is detected, a person has NF2. If no mutation is detected, a doctor could still diagnosis NF2 through what is called a clinical diagnosis.
A clinical diagnosis which means that a person has symptoms or features of a condition that are so unique and specific to that condition that doctors are able to make a diagnosis. The National Institute of Health (NIH) has published the following criteria.
A patient with the following symptoms has a diagnosis of NF2:
-Bilateral vestibular schwannomas (tumors on the auditory nerve of both ears)
OR
-A first degree relative (parent, sibling, child) already known to have NF2 and a unilateral vestibular schwannoma (tumor on the auditory nerve of one ear)
OR
-A first degree relative (parent, sibling, child) already known to have NF2 and any two of the following diagnoses: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities (cataracts)
OR
Unilateral vestibular schwannoma and any two of the following diagnoses: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities (cataracts)
OR
Multiple meningiomas and unilateral vestibular schwannoma
OR
Multiple meningiomas and any two of the following: schwannoma, glioma, neurofibroma, cataract
To learn more about genetic testing and diagnosis of NF2, it can be helpful to talk with a genetics professional. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.
How common is Neurofibromatosis Type II?
The incidence of a condition is a way to measure how many new people are diagnosed with a condition each year. For Neurofibromatosis Type 2 (NF2), the incidence is thought to be about 1 in 33,000. The prevalence of a condition refers to the number of people currently living with a condition. For NF2 the prevalence is about 1 in 60,000 people. More than half of the people diagnosed with NF2 each year are likely to be the first member of their family with the condition. This is because about 50% of individuals with NF2 are "de novo" cases, meaning the genetic mutation that caused their condition was not inherited from one of their parents, but was new to them. A person with a de novo mutation still has the same chance, 50%, of passing that mutation onto any of their future children.
Does everyone with Neurofibromatosis Type II show symptoms?
Everyone who carries a genetic mutation in the NF2 gene will eventually develop features of NF2, which are usually benign tumors of the central nervous system. The exact type of tumor that develops or the age that tumors develop can vary greatly from person to person. Some people do not have a mutation that can be found in the NF2 gene, but they are still diagnosed with NF2 based on the symptoms they show. This is called a clinical diagnosis. However, whether a person has a clinical diagnosis, or whether they carry a mutation, everyone with NF2 will eventually show symptoms and most often this occurs between 18 and 24 years old.
Do people with NF2 use sign language?
Because hearing loss is a common part of an NF2 diagnosis, some patients begin learning sign language before they lose their hearing. The process of hearing loss is usually gradual so patients and their families often have enough time to plan for the future and find out what communication strategies work best for them. Not everyone with hearing loss uses sign language, and this is the same for those who lose their hearing due to NF2. It would benefit families to discuss the different options for communication after hearing loss including sign language, lip reading and communication devices.
Can you have Neurofibromatosis Type II if no one else in your family has it?
About half of people with Neurofibromatosis Type II (NF2) are the first person in their family to have NF2. This is also called a de novo case, meaning it is new in a family. When a person has a de novo diagnosis of NF2, the mutation (genetic change) in the NF2 gene happened new in them and did not come from either of their parents. In rare cases, this mutation might not be present in every single cell of the body. This is called mosaic NF2, or segmental NF2. When this happens it is possible that a person with mosaic NF2 might not pass on the mutation on their children because it is not present in the egg or sperm. The only way to know this is to test the child for the mutation. A child born without a mutation in the NF2 gene will not have NF2.
Are there special medications available to treat NF2?
Right now research is going on to find medications to help treat the tumors associated with NF2. Like chemotherapies that treat cancer, drugs that are being researched are designed to interfere with the ability of the tumor cells to replicate. One very promising drug is called Avastin (also known as bevacizumab). Studies in the United States have shown that people who took Avastin had improved hearing because of the shrinking of the vestibular schwannomas on their auditory nerves. Research is still going on to find out more about the benefits to patients of certain medications.
ClinicalTrials.gov is a website with great information about up and coming research studies for NF2. It can be found here.
Are there other names for Neurofibromatosis Type II?
Neurofibromatosis Type II has had several different names over time. Currently, it is most commonly referred to by the acronym NF2. However, it has also been called Neurofibromatosis Central Type, Bilateral Acoustic Neurofibromatosis or BANF, Bilateral Acoustic Schwannomas, and Bilateral Acoustic Neurinoma. Some of these names come from the main tumor seen in NF2, which are tumors of the auditory nerve called acoustic neuromas and other type of tumor called schwannomas.
While the name is very similar, it is important to remember that Neurofibromatosis Type 1, or NF1, is a completely different condition with different symptoms and health problems associated with it. In fact, some say that using the term "neurofibromatosis" to describe NF2 is misleading because neurofibromas, tumors that form in the cells surrounding nerves, aren’t common in NF2 but are the hallmark feature of NF1.
Are there other conditions that look like Neurofibromatosis Type II?
In order to be diagnosed with Neurofibromatosis Type II (NF2) a person either has to meet with a specialist in NF2 who can diagnose them based on their symptoms, or they have genetic testing that identifies a mutation in the NF2 gene. The types of tumors that can develop in a person with NF2 include vestibular schwannomas, meningiomas, ependymomas, and astrocytomas. However, these tumors can develop in people without NF2 as well. In fact, if a person just develops one of these types of tumors in their lifetime it is unlikely they have NF2. But, if a person develops more than one of these tumors, if they have a family history of NF2, or if they develop them at young ages, they should be evaluated for NF2.
Neurofibromatosis Type I (NF1) is a condition that has a similar name, but mostly different features than NF2. People with NF1 have more skin features like brown spots (cafe au lait), freckling, bumps on their iris (Lisch nodules), soft bumps just under their skin (neurofibromas), learning problems, larger heads and short stature. In fact, if a person develops neurofibromas it is far more likely that they have NF1 than NF2.
There is another condition called schwannomatosis that looks more like NF2 because these individuals develop schwannomas, the nerve tumors also seen in NF2. The main way to tell the difference between these two conditions is that people with schwannomatosis do not develop vestibular schwannomas, which are the hallmark feature of NF2.
Meeting with an expert in these conditions, like a medical geneticist can help a person receive the correct diagnosis.
Are there organizations that provide financial resources to people with NF2?
The Children’s Tumor Foundation, a non-profit dedicated to patients and families with neurofibromatosis (including NF1 and Schwannomatosis), has a list of resources that may benefit patients with NF2 on their website. These resources are not provided directly by the CTF, nor does this list include all possible resources. However, the list is comprehensive and includes resources related to travel, medical care, housing, insurance issues, medications and student scholarships. Locally, your medical team may be able to suggest other resources available.
Are there good support groups for NF2?
There are several organizations for people and families affected by NF2. The Children’s Tumor Foundation is the oldest and largest non-profit dedicated to neurofibromatosis (which includes NF1 and Schwannomatosis as well). They have resources, information, support, message boards, directories for doctors and much more on their website. The NF Network is another organization that has been around since the late 1980’s and provides education, patient advocacy and resources for patients. Their website is: http://www.nfnetwork.org/.
There are several other online resources that provide information on NF2. These are NFis.org, and NF2 Advocure. There are also personal blogs online but as with any content online, such blogs are personal stories and opinions and may not reflect the most up to date or scientifically accurate information.
Are there any ways to meet other people with NF2?
The Children’s Tumor Foundation, a non-profit dedicated to patients with neurofibromatosis (also including NF1 and Schwannomatosis) hosts a summer camp every year in Salt Lake City, Utah. This camp is geared towards adolescents, ages 12 through 22. Tuition at time of writing was $650 per camper, not including travel. Campers engage in many different activities and are able to meet others with NF2. For more information, go to the Children’s Tumor Foundation website.
There is also an annual patient forum hosted by the Children’s Tumor Foundation. The meeting is held in a different city around the United States each year. In addition to meeting other patients and their families, the forum hosts NF experts to provide education. There is more information about the forum on the Children’s Tumor Foundation website.
Are there any treatments for hearing loss with NF2?
Hearing loss in people with NF2 is most often caused by vestibular schwannomas, a type of tumor that grows along the auditory nerve that connects the ear and the brain. Not only can the tumors themselves cause hearing loss, surgery to remove these tumors can also result in hearing loss. Therefore, these tumors are not always removed until they are large enough to cause other problems in the brain.
When hearing loss occurs, there is a surgical treatment called auditory brainstem implant (ABI) that has been used to treat patients with NF2. This type of device is used for people who have lost their hearing due to nerve damage. The procedure involves an internal microphone-like device that transmits sound and an external processor that receives the sound. ABI’s are not always successful. In addition, the sound that is restored is different than "normal" hearing so patients often need to adapt to the new sounds they are able to hear.
Another, newer, option to treat hearing loss is a cochlear implant. Due to nerve damage that happens with NF2, these are also not always successful and also like ABI’s, these implants do not restore complete hearing. More research is going on into this as an option for people with NF2. Like many other parts of NF2, what works for one patient may not be a good option for everyone. Meeting with a specialist in NF2 and a surgeon with experience in performing these surgeries on patients with NF2 is the best way to learn more about these options.
Are there any odd or characteristic features of Neurofibromatosis Type II?
The most common symptom of Neurofibromatosis Type II (NF2) is something called bilateral vestibular schwannomas. Vestibular schwannomas are tumors that grow along the nerve that controls balance and hearing, called the 8th cranial nerve. Because we have two ears, we also have two sets of these nerves. About 1 in 100,000 people will develop a single (or unilateral) vestibular schwannoma during their lifetime. Most of these people do not have NF2. However, if a person develops bilateral vestibular schwannomas, meaning one on both sides, it is highly likely that this person has NF2. It is important to diagnose a person with NF2 as early as possible because they are at risk for other tumors as well and need close monitoring.
Are there any meetings for medical providers dedicated to NF2?
The Children’s Tumor Foundation hosts an annual meeting for scientists and medical providers dedicated to NF2, as well as NF1 and Schwannomatosis. The conference has been happening each year since 1987 and is the largest conference focused on neurofibromatosis in the country. This meeting is intended for providers and is not geared toward patients. Patients have other opportunities to meet and network, and these are listed on the Children’s Tumor Foundation website.
Are there any fundraising events for NF2?
The Children’s Tumor Foundation has an option to host a walk as a fundraiser for their organization. Their website has more information about this. Another major fundraiser for this organization is Cupid’s Undie Run. This is a one mile "fun run" that takes place on Valentine’s Day each year in many cities around the country. Dates and more information is on their website. This run has raised over 3.5 million dollars for the Children’s Tumor Foundation.
Are there any activities people with Neurofibromatosis Type II should avoid?
Because of the balance issues that NF2 can cause, people with NF2 should be careful while swimming because of the chances of becoming disoriented underwater. When tumors form on the nerve that controls balance, people can become confused and this is particularly concerning while swimming and there is a risk of drowning.
Are their forms of Neurofibromatosis Type II that are not genetic?
Neurofibromatosis Type II (NF2) is always hereditary. However, this does not mean that a mutation in the NF2 gene can always be found in every person with NF2. Current testing is able to find a mutation in about 90% of families with NF2 and in about 70% of people who are the first in their family to have NF2. Other people might still be diagnosed with NF2 even if a mutation cannot be found. In these people it could be due to mosaic NF2, meaning the mutation is only present in some cells but not in the DNA of leukocytes, which are usually the cells used in genetic testing. Because NF2 is hereditary, close family members should be evaluated by a specialist, especially when a mutation cannot be found in affected relatives, so that an early diagnosis can be made.
To learn more about genetic testing and the ways in which NF2 can be passed down in a family it can be helpful to talk with a genetics professional. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.
Are their different types of Neurofibromatosis Type II?
Neurofibromatosis Type II (NF2) is a condition that has certain features associated with it, most commonly tumors that form in the nervous system. There is a separate condition called Neurofibromatosis Type I (NF1) that is a different condition, caused by mutations in a different gene. Even though the names are similar, these are two totally different conditions. NF2 cannot turn into NF1, and vice versa. While NF2 is a specific condition, there is a wide range of symptoms and features that different people can have. So not everyone with NF2 develop symptoms at the same age, or even develop the same types of symptoms. Medically, this means NF2 is very variable in that each person, even within the same family, may not have all the same features.
