Soft tissue tumors
Neurofibromatosis type 2
Reviewer: Vijay Shankar, M.D. (see Reviewers page)
Revised: 5 March 2013, last major update November 2012
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.
- Also known as NF2, acoustic neurofibromatosis
- Autosomal dominant, 1/40K incidence
- Mutation in merlin gene at 22q12; function unknown but widely distributed and similar to cytoskeletal protein
- Nonsense mutations usually more severe than missense mutations
- Signs/symptoms: bilateral acoustic neuromas or multiple meningiomas, spinal cord ependymomas; also schwannosis (ingrowth of Schwann cells into cord), meningioangiomatosis (meningeal cells and blood vessel proliferation into the brain), glial hamartia (microscopic nodular collections of glial cells in cerebral cortex); cafe au lait spots, but no Lisch nodules
End of Soft tissue tumors > Neurofibroma > Neurofibromatosis type 2
This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patient's clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician.
All information on this website is protected by copyright of PathologyOutlines.com, Inc. Information from third parties may also be protected by copyright. Please contact us at copyrightPathOut@gmail.com
with any questions (click here for other