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
Diagnosis relies on established criteria, such as the Manchester NF2 criteria. These include bilateral vestibular schwannomas
Management is multidisciplinary and individualized, focusing on tumor surveillance and treatment of symptoms. Regular MRI and
Prognosis varies with tumor burden and access to treatment; life expectancy is generally reduced compared with