Neurofibromatosis type 2

摘要: Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis 1. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, affecting particularly superior vestibular branch 8th cranial nerve, usually bilaterally. Meningiomas and other benign central nervous system tumours such as ependymomas are features. Much morbidity from these results their treatment. It now possible to identify mutation in most families, although about 20% apparently sporadic cases actually mosaic for mutation. As classical tumour suppressor, inactivation product, merlin/schwannomin, leads development both associated tumours. Merlin/schwannomin associates proteins at cell cytoskeleton near plasma membrane it inhibits proliferation, adhesion, migration.