Neurofibromatosis type 2-related schwannomatosis - An update

Abstract

Neurofibromatosis type 2-related schwannomatosis (NF2-SWN) is an autosomal dominant inherited disorder with 100 % penetrance associated with pathogenic variants of the NF2 gene on the long arm of chromosome 22. It was previously known as central neurofibromatosis and neurofibromatosis type 2. NF2-SWN has a global incidence of about 1 in 50,000. This disorder is characterized by the formation of multiple types of central nervous system tumors. While bilateral vestibular schwannomas affect more than 95 % of individuals with NF2-SWN, meningiomas, ependymomas, gliomas, other schwannomas, and ophthalmologic abnormalities are also common. Careful dermatologic, ophthalmologic, and neurologic examination can identify signs of NF2-SWN to allow timely initiation of disease specific treatment. Most patients benefit from multimodal treatment, including surgery.