Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]

Genet Med. 2009 Sep;11(9):599-610. doi: 10.1097/GIM.0b013e3181ac9a27.

Abstract

Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. Affected individuals inevitably develop schwannomas typically affecting both vestibular nerves leading to deafness. Rehabilitation with brainstem implants is improving this outcome. Schwannomas also occur on other cranial nerves, on spinal nerve roots, and on peripheral nerves. Meningiomas and ependymomas are other tumor features. In excess of 50% of patients represent new mutations and as many as one third are mosaic for the underlying disease causing mutation. Although truncating mutations (nonsense and frameshifts) are the most frequent germline event and cause the most severe disease, single and multiple exon deletions are common. A strategy for detection of the latter is vital for a sensitive analysis. NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy. Surgery remains the focus of current management, although watchful waiting and occasionally radiation treatment have a role. In the future, the development of tailored drug therapies aimed at the genetic level are likely to provide huge improvements for this devastating, life limiting condition.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Diagnosis, Differential
  • Genes, Neurofibromatosis 2*
  • Genetic Counseling
  • Genetic Testing
  • Humans
  • Neurofibromatosis 2 / diagnosis*
  • Neurofibromatosis 2 / genetics*
  • Neurofibromatosis 2 / pathology
  • Prenatal Diagnosis