Schwannomas and their pathogenesis.

David A. Hilton*, Clemens Oliver Hanemann

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Schwannomas may occur spontaneously, or in the context of a familial tumor syndrome such as neurofibromatosis type 2 (NF2), schwannomatosis and Carney's complex. Schwannomas have a variety of morphological appearances, but they behave as World Health Organization (WHO) grade I tumors, and only very rarely undergo malignant transformation. Central to the pathogenesis of these tumors is loss of function of merlin, either by direct genetic change involving the NF2 gene on chromosome 22 or secondarily to merlin inactivation. The genetic pathways and morphological features of schwannomas associated with different genetic syndromes will be discussed. Merlin has multiple functions, including within the nucleus and at the cell membrane, and this review summarizes our current understanding of the mechanisms by which merlin loss is involved in schwannoma pathogenesis, highlighting potential areas for therapeutic intervention.
Original languageEnglish
Pages (from-to)205-220
Number of pages0
JournalBrain Pathol
Volume24
Issue number3
DOIs
Publication statusPublished - Apr 2014

Keywords

  • Carney's complex
  • NF2
  • merlin
  • pathogenesis
  • schwannoma
  • schwannomatosis
  • Animals
  • Brain Neoplasms
  • Carney Complex
  • Humans
  • Neurilemmoma
  • Neurofibromatosis 2

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