Multiple schwannomatosis caused by the recently described INI1 gene--molecular pathology, and implications for prognosis

Br J Neurosurg. 2011 Jun;25(3):330-2. doi: 10.3109/02688697.2010.507278. Epub 2010 Sep 20.

Abstract

The most common genetic predisposition to multiple schwannoma growth is mutation of the neurofibromatosis type 2 gene. We describe a patient with multiple schwannomas and mutation in the recently described INI1 gene, which also predisposes to the disease. We explore the implications for prognosis and outcome.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Chromosomal Proteins, Non-Histone / genetics*
  • DNA-Binding Proteins / genetics*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • Neurilemmoma / genetics
  • Neurilemmoma / surgery
  • Neurofibromatoses / genetics
  • Neurofibromatoses / surgery
  • Neurofibromatosis 2 / genetics*
  • Neurofibromatosis 2 / surgery
  • Prognosis
  • SMARCB1 Protein
  • Skin Neoplasms / genetics
  • Skin Neoplasms / surgery
  • Transcription Factors / genetics*
  • Treatment Outcome

Substances

  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors

Supplementary concepts

  • Schwannomatosis