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Neurofibromatosis type 1 (NF1) and type 2 (NF2) are autosomal dominant genetic disorders that predispose individuals to nerve sheath tumors. These syndromes arise from mutations in tumor suppressor genes: NF1 results from mutations in the NF1 gene on chromosome 17q11.2, affecting the protein neurofibromin, while NF2 arises from mutations in the NF2 gene on chromosome 22q12.2, impacting the protein merlin. Both proteins regulate cellular growth and maintain normal nerve function, and their loss leads to tumor formation.

In NF1, the characteristic tumors are neurofibromas—benign peripheral nerve sheath tumors that contain Schwann cells, fibroblasts, mast cells, and other nerve components. Nearly all individuals with NF1 develop neurofibromas, which may be cutaneous (skin), subcutaneous, or plexiform (more diffuse and involving multiple nerves). Plexiform neurofibromas, found in around 20-30% of patients, can cause significant morbidity and may transform into malignant peripheral nerve sheath tumors (MPNST), which carry a poor prognosis.

Schwannomas are benign tumors arising from Schwann cells that provide the insulating myelin sheath for nerves. NF2 tumors often affect the central and peripheral nervous system and may lead to hearing loss, balance issues, and neurological complications.

Both NF1 and NF2 require multidisciplinary management and regular surveillance due to risks of benign and malignant tumors affecting nerve function and overall health.