The neurofibromatoses: when less is more

Hum Mol Genet. 2001 Apr;10(7):747-55. doi: 10.1093/hmg/10.7.747.

Abstract

The study of cancer predisposition syndromes presents unique opportunities to gain insights into the genetic events associated with tumor pathogenesis. Individuals with two inherited cancer syndromes, neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2), develop both benign and malignant tumors. The corresponding genes mutated in these two disorders encode tumor suppressor proteins, termed neurofibromin (NF1) and merlin (NF2), which function in novel ways to regulate cell growth and differentiation. Neurofibromin inhibits cell proliferation, at least in part, by modulating mitogenic pathway signaling through inactivation of p21-ras. In contrast, merlin may act as a membrane-associated molecular switch that regulates cell-cell and cell-matrix signals transduced by cell surface receptors. Significant progress in our understanding of the genetics and biology of NF1 and NF2 has elucidated the roles of these genes in tumor initiation and progression.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Cell Communication
  • Disease Progression
  • Genetic Predisposition to Disease*
  • Humans
  • Immunohistochemistry
  • Membrane Proteins / genetics
  • Mice
  • Models, Biological
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 1 / pathology
  • Neurofibromatosis 2 / genetics*
  • Neurofibromatosis 2 / pathology
  • Neurofibromin 1
  • Neurofibromin 2
  • Proto-Oncogene Proteins p21(ras) / metabolism
  • Signal Transduction

Substances

  • Membrane Proteins
  • Nerve Tissue Proteins
  • Neurofibromin 1
  • Neurofibromin 2
  • HRAS protein, human
  • Proto-Oncogene Proteins p21(ras)