Medicines for Neurofibromatosis type 2

What it is

Neurofibromatosis type 2 (NF2) is a rare genetic condition that causes benign (non-cancerous) tumours to grow on nerves, particularly affecting the nerves involved in hearing and balance. It is much rarer than, and different from, neurofibromatosis type 1, and is caused by a change (mutation) in a different gene; it can be inherited or arise as a new change. The characteristic feature of NF2 is the development of benign tumours called schwannomas, especially on the nerves that carry hearing and balance information from each ear to the brain (vestibular schwannomas, sometimes called acoustic neuromas) — and in NF2 these characteristically develop on both sides. Because of this, common symptoms of NF2 relate to hearing and balance and can include: gradual hearing loss (often in both ears); ringing in the ears (tinnitus); and problems with balance or dizziness. NF2 can also cause other benign tumours on other nerves, on the coverings of the brain and spinal cord (meningiomas), or within the spinal cord, which can cause symptoms depending on their location (such as weakness, numbness, or other neurological symptoms), and it can affect the eyes. The tumours are benign (they do not usually spread), but because of where they grow — on important nerves and around the brain and spinal cord — they can cause significant problems, particularly affecting hearing, and can require treatment. NF2 usually becomes apparent in the teenage years or young adulthood. Because it is complex and affects important structures, NF2 is managed by specialist teams, with regular monitoring (including scans and hearing tests) to detect and follow the tumours, and treatment of tumours that are growing or causing problems — aiming to preserve hearing and function and manage the tumours — using approaches such as surgery, radiotherapy (in some cases), other treatments, and support (including for hearing). The key messages are that NF2 is a rare genetic condition causing benign tumours on nerves (especially the hearing and balance nerves on both sides), that it mainly affects hearing and balance but can affect other areas, and that specialist monitoring and treatment aim to preserve hearing and function.

How it is treated

Neurofibromatosis type 2 is managed by specialist multidisciplinary teams, with regular monitoring to detect and follow the benign tumours, and treatment of those that are growing or causing problems, aiming to preserve hearing and function. Diagnosis is based on the characteristic features (particularly tumours on the hearing and balance nerves on both sides), imaging, and genetic testing, and is usually confirmed and managed through specialist NF2 services. Because NF2 involves benign tumours that grow on important nerves and around the brain and spinal cord, and because their behaviour and effects vary, the cornerstone of management is careful, regular monitoring — with scans (such as MRI) to detect and follow the tumours, and hearing tests and other assessments to monitor hearing, balance, and any other affected functions — so that tumours that are growing or beginning to cause problems can be identified and treatment planned at the right time. Treatment is considered for tumours that are growing, causing significant symptoms, or threatening important functions (particularly hearing), and the approach is individualised, balancing treating the tumour with preserving function; options can include: surgery to remove or reduce a tumour (with care to preserve nerve function where possible); radiotherapy (such as stereotactic radiotherapy) for certain tumours; and, in some cases, other treatments, including medicines that can help control certain tumours (such as those affecting the hearing nerves) in appropriate situations. Preserving and supporting hearing is a major focus — this can include monitoring, treatment decisions aimed at preserving hearing, and support and rehabilitation for hearing loss, including hearing devices and, in some cases, implants (such as a cochlear or auditory brainstem implant) to help with hearing where the nerves are affected, along with communication support. Managing any other tumours (such as those in the spine) and symptoms, and supporting the person’s overall wellbeing and quality of life, are part of care. Because NF2 is genetic, genetic counselling is offered to discuss the condition, inheritance, and family planning, and family members may be assessed. Support for living with the condition, its symptoms, and the impact on hearing and daily life is important. The reassuring messages are that, although NF2 is a serious, lifelong condition, the tumours are benign, and that specialist monitoring and individualised treatment aim to control the tumours while preserving hearing and function, with support (including for hearing) helping people manage the condition and maintain quality of life.