NF2typically

NF2typically describes the typical clinical presentation of Neurofibromatosis type 2 (NF2), an autosomal dominant tumor predisposition syndrome. NF2 results from loss-of-function mutations in the NF2 gene on chromosome 22, encoding the merlin (schwannomin) tumor suppressor. The condition demonstrates high penetrance but considerable clinical variability; most cases are inherited, but about half arise de novo.

Characteristic features of the typical NF2 course include bilateral vestibular schwannomas, which frequently cause progressive sensorineural hearing loss, tinnitus, and imbalance. In addition, patients commonly develop intracranial meningiomas, spinal intradural schwannomas, and spinal cord ependymomas. Cataracts, especially juvenile posterior subcapsular cataracts, may appear and contribute to vision problems. Skin findings are less prominent than in NF1, with rare cutaneous schwannomas or other soft-tissue tumors.

Diagnosis relies on established criteria, such as the Manchester NF2 criteria. These include bilateral vestibular schwannomas or a first-degree relative with NF2 plus two of the following: meningioma, schwannoma, glioma, or juvenile cataract. MRI of the brain and spine is the main diagnostic imaging modality; genetic testing for NF2 mutations can support the diagnosis and guide family counseling.

Management is multidisciplinary and individualized, focusing on tumor surveillance and treatment of symptoms. Regular MRI and audiology assessments are recommended. Treatment options for tumors include microsurgical resection, stereotactic radiosurgery, or observation in selected cases. Hearing preservation strategies, including cochlear implants or auditory brainstem implants, may be considered. Vision and cataract management may be required.

Prognosis varies with tumor burden and access to treatment; life expectancy is generally reduced compared with the general population, but outcomes have improved with modern imaging and interventions. NF2typically serves as a concise reference to the expected clinical spectrum of NF2, rather than a standalone disease concept.