Mouse tumor model for neurofibromatosis type 1

Science. 1999 Dec 10;286(5447):2176-9. doi: 10.1126/science.286.5447.2176.

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by increased incidence of benign and malignant tumors of neural crest origin. Mutations that activate the protooncogene ras, such as loss of Nf1, cooperate with inactivating mutations at the p53 tumor suppressor gene during malignant transformation. One hundred percent of mice harboring null Nf1 and p53 alleles in cis synergize to develop soft tissue sarcomas between 3 and 7 months of age. These sarcomas exhibit loss of heterozygosity at both gene loci and express phenotypic traits characteristic of neural crest derivatives and human NF1 malignancies.

Publication types

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

MeSH terms

  • Animals
  • Biomarkers, Tumor
  • Cell Differentiation
  • Cell Transformation, Neoplastic
  • Crosses, Genetic
  • Disease Models, Animal*
  • Female
  • Genes, Neurofibromatosis 1*
  • Genes, p53*
  • Heterozygote
  • Humans
  • Loss of Heterozygosity
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mutation
  • Neural Crest / metabolism
  • Neural Crest / pathology
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 1 / pathology*
  • Sarcoma / genetics
  • Sarcoma / pathology*
  • Schwann Cells / metabolism
  • Schwann Cells / pathology
  • Tumor Cells, Cultured

Substances

  • Biomarkers, Tumor