Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Neurofibromatosis 2

  • James F. Gusella
Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_4037-2

Synonyms

Definition

Neurofibromatosis 2 (NF2) is an autosomal dominant disorder characterized by the bilateral development of vestibular schwannoma, along with the occurrence of multiple other benign intracranial, spinal cord, and peripheral nerve tumors. Cataracts are nontumorous manifestations of NF2.

Characteristics

Diagnostic Criteria and Clinical Aspects

The diagnostic criteria for NF2 are the observance of bilateral eight-nerve masses (vestibular schwannomas) with appropriate imaging techniques (e.g., CT or MRI) or the existence of a first-degree relative with NF2 and either a unilateral vestibular schwannoma or two of the following: meningioma, neurofibroma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacity.

Vestibular schwannomas, formerly termed acoustic neuromas, are a universal feature of NF2. They are slow-growing, benign tumors that form in the internal auditory canal where the...

Keywords

Cystic Fibrosis Transmembrane Conductance Regulator Vestibular Schwannoma Acoustic Neuroma Vestibular Schwannomas Ferm Domain 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Evans DG, Huson SM, Donnai D et al (1992) A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity. J Med Genet 29:841–846CrossRefPubMedPubMedCentralGoogle Scholar
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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Center for Human Genetic ResearchMassachusetts General HospitalBostonUSA