Soft tissue

Peripheral nerve

Neurofibroma

Neurofibromatosis type 2



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Last staff update: 17 February 2020

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PubMed Search: Neurofibromatosis type 2 [title]

Vijay Shankar, M.D.
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Cite this page: Shankar V. Neurofibromatosis type 2. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/softtissueNF2.html. Accessed August 14th, 2022.
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
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