Neurofibromatosis type 2 (NF2) is an autosomal inherited polyomatous syndrome caused by a mutation in NF2 tumor suppressor genes located on autosomal 22. About 50% NF2 patients are inherited from the NF2 mutations carried by their parents, and the remaining ones are caused by accidental mutations occurring in embryos. About 1/3 of NF2 incidental mutations are mosaics of somatic mutations, which may occur in early embryonic development. The incidence of NF2 is 1/210 000, and the penetrance varies between different age groups, with the penetrance of about 50% at the age of 20, but nearly 100% at the age of 60. Patients with NF2 often present with nervous system tumors (schwannoma, meningioma, ependymoma, astrocytoma, and neurofibroma), peripheral neuropathy, ophthalmological lesions (cataract and retinal hamartoma), and cutaneous lesions (skin tumors). Here is a review of recent studies on the genetics and related molecular mechanisms of NF2 pathogenesis.

Neurofibromatosis type 2; Molecular genetics; Pathogenic mechanism