NF2-Related Schwannomatosis (NF2-SWN)
Neurofibromatosis (NF) is a group of genetic conditions that cause tumours to grow on nerves throughout the body. The main types of NF include neurofibromatosis type 1 (NF1) and schwannomatosis (SWN).
NF2-related schwannomatosis (NF2-SWN) is one form of schwannomatosis. It was previously known as neurofibromatosis type 2 (NF2).
What Is NF2-Related Schwannomatosis?
NF2-related schwannomatosis is a rare genetic condition, affecting approximately 1 in 25,000 people worldwide.
It is characterized by the development of benign (non-cancerous) tumours, most commonly vestibular schwannomas, which grow on the eighth cranial nerve. This is the nerve responsible for hearing and balance. These tumours typically affect both ears and may lead to hearing loss and balance difficulties. People with NF2-SWN may also develop other benign tumours in the brain or spinal cord.
What Causes NF2-SWN?
NF2-SWN is caused by a pathogenic variant (gene change) in the NF2 gene, which is located on chromosome 22. This gene plays a role in regulating cell growth.
In about half of cases, NF2-SWN is inherited from a parent with the condition. In the other half, it occurs as a spontaneous (new) genetic mutation, with no family history. Whether inherited or spontaneous, a person with NF2-SWN has a 50% chance of passing the condition on to each child.
How Is NF2-SWN Diagnosed?
Diagnosis is based on a combination of:
- Medical history and symptoms
- Imaging studies (such as MRI scans)
- Family history
- Genetic testing, when appropriate
If you experience symptoms that may be related to NF2-SWN, it’s important to speak with your family doctor, who can refer you to appropriate specialists.
When Do Symptoms Appear?
Symptoms most often develop in the late teen or early adult years, although about 1 in 10 people experience symptoms during late childhood. NF2-SWN affects people differently. Some individuals have mild symptoms for many years, while others experience more complex medical challenges even within the same family.
Common Signs and Symptoms
NF2-related schwannomatosis (NF2-SWN) can affect hearing, balance, vision, and the nervous system. Symptoms vary from person to person and depend on the location and size of tumours.
Common symptoms may include:
- Hearing loss or hearing changes
- Ringing in the ears (tinnitus)
- Balance problems or dizziness
- Facial weakness or asymmetry
- Vision changes, and other symptoms related to tumours affecting the central nervous system
Not everyone will experience all of these symptoms, and many people experience only a few.
Are There Treatments for NF2-SWN?
There is currently no cure for NF2-related schwannomatosis. Treatment focuses on managing symptoms and complications and may include:
- Careful monitoring and regular imaging
- Surgery, when tumours cause significant symptoms
- Targeted therapies in selected cases
- Radiotherapy in limited situations
Not all tumours require treatment. Decisions are made based on symptoms, tumour growth, and individual circumstances. Pain management and supportive care are often important components of treatment, particularly when tumours cannot be surgically removed.
Living With NF2-SWN
NF2-SWN is a lifelong condition, but early recognition, appropriate monitoring, and coordinated care can help reduce complications and support quality of life. Care often involves a team of specialists, which may include neurologists, neurosurgeons, audiologists, ophthalmologists, and genetic specialists. Because British Columbia does not yet have a dedicated multidisciplinary NF clinic, navigating care can be challenging. We can help.
Support in British Columbia
The Tumour Foundation of BC offers:
- One-to-one support
- Help understanding diagnosis and care options
- Guidance in navigating the healthcare system
- Educational resources and community connection
You don’t have to navigate NF2-related schwannomatosis alone.
Find the NF2 Guide here.