Neurofibromatosis type 2
Neurofibromatosis Type 2[edit | edit source]
Neurofibromatosis Type 2 (NF2) is a rare genetic disorder characterized by the development of noncancerous tumors in the nervous system, particularly affecting the brain and spinal cord. The hallmark of NF2 is the presence of bilateral vestibular schwannomas, which are tumors that develop on the vestibular nerves leading to the inner ear, causing hearing loss and balance issues.
Genetics[edit | edit source]
NF2 is caused by mutations in the NF2 gene, which is located on chromosome 22. This gene encodes a protein called merlin or schwannomin, which acts as a tumor suppressor. Mutations in the NF2 gene lead to a loss of function of merlin, resulting in uncontrolled cell growth and tumor formation. NF2 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder. However, about 50% of cases arise from a de novo mutation, meaning the mutation occurs spontaneously and is not inherited from a parent.
Symptoms[edit | edit source]
The symptoms of NF2 can vary widely among individuals but commonly include:
- Hearing loss: Often the first symptom, due to vestibular schwannomas.
- Tinnitus: Ringing in the ears.
- Balance problems: Due to the effect on the vestibular nerves.
- Cataracts: Early onset cataracts can occur in some individuals.
- Skin tumors: Such as schwannomas and neurofibromas.
- Meningiomas: Tumors that develop on the membranes covering the brain and spinal cord.
Diagnosis[edit | edit source]
Diagnosis of NF2 is based on clinical criteria and genetic testing. The presence of bilateral vestibular schwannomas is a key diagnostic criterion. MRI scans are used to detect tumors in the brain and spinal cord. Genetic testing can confirm mutations in the NF2 gene.
Treatment[edit | edit source]
There is no cure for NF2, and treatment focuses on managing symptoms and complications. Options include:
- Surgery: To remove tumors that are causing significant symptoms or complications.
- Radiation therapy: Such as stereotactic radiosurgery, to control tumor growth.
- Hearing aids or cochlear implants: To manage hearing loss.
- Physical therapy: To help with balance and mobility issues.
Prognosis[edit | edit source]
The prognosis for individuals with NF2 varies depending on the severity of the condition and the number and location of tumors. Regular monitoring and early intervention can help manage symptoms and improve quality of life.
Research[edit | edit source]
Ongoing research is focused on understanding the molecular mechanisms of NF2 and developing targeted therapies. Clinical trials are exploring new treatment options, including drugs that target specific pathways involved in tumor growth.
See Also[edit | edit source]
==
NIH genetic and rare disease info[edit source]
Neurofibromatosis type 2 is a rare disease.
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Contributors: Prab R. Tumpati, MD
