Diagnósticos
Diagnosis and tests
NF2-related schwannomatosis (NF2) is diagnosed through a mix of hearing tests, imaging and genetic testing. Most people are diagnosed when they have hearing loss, ringing in the ears or balance trouble. These are often the first signs of tumors called vestibular schwannomas. They grow on the nerves that connect the inner ear to the brain.
Early detection through hearing tests, MRI and genetic testing helps guide treatment and preserve hearing.
Medical history and exam
A detailed history and physical exam help find early signs of NF2 complications, such as hearing loss, balance changes or muscle weakness. An eye exam can detect cataracts or changes to the optic nerve.
Hearing and balance tests
Other tests, such as auditory brainstem response (ABR) and vestibular testing, show whether the hearing and balance nerves are sending signals properly. Unusual results can be another clue that vestibular schwannomas are present and help confirm an NF2 diagnosis.
Imaging tests
Brain MRI is the key test for diagnosing NF2. It can find vestibular schwannomas on the hearing and balance nerves. Spine MRI helps find tumors in the spinal cord such as schwannomas and ependymomas. MRI may find tumors before symptoms appear. Follow-up MRI and hearing tests track growth and guide care.
Genetic testing
Genetic testing looks for a change in the NF2 gene. Finding this change can confirm NF2. A blood test can find a gene change you were born with, whether it was inherited from a parent or happened spontaneously for the first time.
Sometimes the blood test is negative even when NF2 is likely. In that case, testing the tumor can find the change and show mosaic NF2, which means only some cells have the gene change.
Diagnosis in children and families
If a parent has NF2, children can be tested. Genetic counseling can help families understand the risks and timing of screening. Early MRI and hearing tests help catch tumors when treatment can best protect hearing and nerve function.
Tratamientos
There is no cure for NF2-related schwannomatosis (NF2). But treatment can help manage tumors and protect hearing, balance and nerve function. The goal of treatment is to control tumor growth, relieve symptoms and maintain quality of life for as long as possible.
Care is often provided by a team that includes specialists in neurology, neurosurgery, ear care and hearing, eye care, and rehabilitation. Regular MRI scans and hearing tests are used to monitor tumor size and function over time.
Surgery
Surgery may be recommended for tumors that grow quickly, cause pain, or affect hearing or balance. The goal is to remove as much tumor as possible while protecting nearby nerves. For vestibular schwannomas — tumors on the hearing and balance nerves — surgery to save hearing may be possible when the tumor is small.
Sometimes, surgeons may remove the tumor completely to relieve pressure on the brain or spinal cord. Because NF2 tumors often occur in multiple places, each surgery is planned individually to lower the chance of nerve injury and hearing loss.
Radiation therapy
Stereotactic radiosurgery may be used for smaller tumors or when surgery is not possible. This treatment uses precisely targeted radiation to stop or slow tumor growth. However, radiation carries some risk of nerve damage or new tumor growth later in life, so it is used carefully.
Targeted therapy
Targeted medicines work on a specific pathway inside the tumor. They are designed to block the signals that help the tumor grow. One of these medicines, bevacizumab, blocks blood vessel growth. It has shown benefit for some people with growing vestibular schwannomas. In studies, it reduced tumor size and helped preserve hearing for many people.
Hearing and rehabilitation
When hearing is lost, auditory implants can help restore sound awareness. Options include cochlear implants if the cochlear nerve is still working, or auditory brainstem implants when both hearing nerves are damaged. A cochlear implant sends sound signals directly to the hearing nerve inside the inner ear. A brainstem implant bypasses the ear entirely and sends sound signals straight to the brain.
Physical therapy, balance training and vision care also can improve daily function and safety.
Ongoing monitoring
Because NF2 can cause new tumors over time, lifelong follow-up is important. MRI scans, hearing and eye exams, and physical evaluations help guide when and how to treat. Regular visits at a center experienced in neurofibromatosis allow early detection of changes and help maintain quality of life.
Other targeted medicines and combination approaches are being studied in clinical trials.
Potential future treatments
Researchers are studying new medicines and approaches to slow tumor growth and help preserve hearing for people with NF2-related schwannomatosis. Many of these options are available only in clinical trials at centers with neurofibromatosis expertise.
Other targeted drugs, such as everolimus, erlotinib and lapatinib, are being studied for NF2 but are not yet proved or approved to treat NF2. Early studies look at whether these medicines can shrink tumors or stabilize hearing.
Research also is exploring newer medicines that act on tumor-growth pathways, including VEGF, mTOR and MAPK. These treatments aim to slow growth or reduce tumor size, but they remain experimental.
Researchers are evaluating how to use bevacizumab most effectively, including dosing and maintenance strategies. They also are looking at whether combining targeted drugs or pairing them with other treatments may improve results. These approaches are still under study.
These studies are part of a growing effort to find targeted therapies for NF2-related schwannomatosis that control tumors while protecting hearing and nerve function.
If you are interested in newer options, your care team may discuss clinical trials to see whether any are a good match for your situation and goals.
Estrategias de afrontamiento y apoyo
Learning you have NF2 can cause many feelings. Staying connected helps. A support group, counseling and talking with people you trust can lower stress and make day-to-day life easier.
Ways to cope day to day
- Hearing support. Consider using hearing aids or cochlear or auditory brainstem implants. Captioned phone and video also may help.
- Balance and safety. Vestibular rehabilitation therapy, regular exercise and simple steps to prevent falls at home can help you cope with these issues.
- Communication tools. Consider speech-to-text apps and alerting devices for phones and doorbells.
- Pain and headaches. Ask your care team about medicines, physical therapy and relaxation skills.
- Emotional health. Counseling, cognitive behavioral therapy and peer support can help you learn to manage stress and other feelings.
- School or work. Ask for accommodations such as captioning, quiet spaces, flexible schedules and written instructions.
- Follow-up care. Get regular hearing tests and MRI scans to catch changes early. These steps can improve daily function and quality of life.
Finding support
Getting help from people and programs can make daily life easier and less stressful. Support may be available from:
- National neurofibromatosis groups and local chapters.
- Hospital-based neurofibromatosis clinics and social work services.
- Online NF2 communities and moderated forums.
- Family, friends and caregivers.
- Genetic counseling for family planning and testing.
These supports can help you feel informed, connected and in control.
Neurofibromatosis clinics often include social workers or psychologists who can help coordinate care and connect you to community programs.
Preparación para la consulta
You may be referred to a specialist in brain and nervous system conditions, known as a neurologist.
Here's some information to help you get ready for your appointment.
What you can do
When you make the appointment, ask if there's anything you need to do in advance, such as fasting before a specific test. Before your appointment:
- Write down a list of concerns, making a note of when you first noticed them.
- Bring a complete medical and family history with you.
- Write down key personal information, including any major stresses or recent life changes.
- Make a list of all medicines, vitamins or supplements that you are taking.
- Write down questions to ask your healthcare professional.
For NF2, basic questions to ask include:
- What tests do I need?
- What treatments are available?
- How should the condition be monitored for changes?
Don't hesitate to ask other questions.
What to expect from your doctor
Your healthcare professional is likely to ask you several questions. They may include:
- When did you first notice symptoms?
- Have your symptoms changed over time?
- Is there a family history of NF2?