Cite this page: Shankar, V. Neurofibromatosis type 2. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/softtissueNF2.html. Accessed March 19th, 2019.
Definition / general
- 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