Neurofibromas in NF1: Schwann cell origin and role of tumor environment

Science. 2002 May 3;296(5569):920-2. doi: 10.1126/science.1068452.

Abstract

Neurofibromatosis type 1 (NF1) is one of the most prevalent dominantly inherited genetic diseases of the nervous system. NF1 encodes a tumor suppressor whose functional loss results in the development of benign neurofibromas that can progress to malignancy. Neurofibromas are complex tumors composed of axonal processes, Schwann cells, fibroblasts, perineurial cells, and mast cells. Through use of a conditional (cre/lox) allele, we show that loss of NF1 in the Schwann cell lineage is sufficient to generate tumors. In addition, complete NF1-mediated tumorigenicity requires both a loss of NF1 in cells destined to become neoplastic as well as heterozygosity in non-neoplastic cells. The requirement for a permissive haploinsufficient environment to allow tumorigenesis may have therapeutic implications for NF1 and other familial cancers.

Publication types

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

MeSH terms

  • Alleles
  • Animals
  • Axons / ultrastructure
  • Cell Lineage
  • Cell Transformation, Neoplastic
  • Cells, Cultured
  • Cranial Nerves / pathology
  • Culture Techniques
  • Female
  • Genes, Neurofibromatosis 1*
  • Genotype
  • Heterozygote
  • Hyperplasia
  • Loss of Heterozygosity
  • Male
  • Mast Cells / chemistry
  • Mast Cells / pathology
  • Mice
  • Mice, Transgenic
  • Neurofibroma / genetics
  • Neurofibroma / pathology*
  • Neurofibromatosis 1 / genetics
  • Neurofibromatosis 1 / pathology*
  • Peripheral Nerves / pathology
  • Schwann Cells / chemistry
  • Schwann Cells / pathology*
  • Spinal Nerves / pathology