Somatic mutations in the neurofibromatosis 1 gene in gliomas and primitive neuroectodermal tumours

Anticancer Res. Nov-Dec 1995;15(6B):2495-9.


The increased frequency of glioma among neurofibromatosis 1 (NF1) patients suggests a general involvement of the NF1 gene in glioma tumourigenesis. Using the methodology of conventional Southern blotting with a complete panel of overlapping partial cDNAs covering the whole NF1 gene, we screened 31 gliomas of several different subtypes and 3 primitive neuroectodermal tumours (PNETs) from non-NF1 patients for aberrant restriction patterns in their tumour DNA samples. Clear evidence for somatic mutation events at the NF1 gene locus was found in 1 astrocytoma, 2 glioblastomas, 1 ependymoma and 1 PNET with an astrocytic component. These results suggest that the NF1 gene is important in suppressing tumours of neuroectodermal origin.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Astrocytoma / genetics
  • Brain Neoplasms / genetics*
  • Child
  • DNA Mutational Analysis
  • DNA, Complementary / genetics
  • DNA, Neoplasm / genetics*
  • Ependymoma / genetics
  • Gene Deletion
  • Genes, Neurofibromatosis 1*
  • Glioblastoma / genetics
  • Glioma / genetics*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Neuroectodermal Tumors / genetics*
  • Polymorphism, Restriction Fragment Length


  • DNA, Complementary
  • DNA, Neoplasm