Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis.

Journal Article (Journal Article)

Individuals with neurofibromatosis type 1 (NF1) have an increased risk of developing benign and malignant tumours. The NF1 gene is thought to be a tumour suppressor gene, yet no direct proof at the molecular level exists to support this hypothesis. Here we describe a neurofibrosarcoma from a patient with NF1 with loss of heterozygosity for all chromosome 17 polymorphisms tested. On the remaining chromosome 17 homologue, a 200 kilobase (kb) tumour specific deletion of NF1 was demonstrated. This is the first example of a homozygous inactivation of NF1 at the molecular level in a malignant tumour from an NF1 patient and the results strongly support the tumour suppressor gene hypothesis for this disease.

Full Text

Duke Authors

Cited Authors

  • Legius, E; Marchuk, DA; Collins, FS; Glover, TW

Published Date

  • February 1993

Published In

Volume / Issue

  • 3 / 2

Start / End Page

  • 122 - 126

PubMed ID

  • 8499945

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng0293-122


  • eng

Conference Location

  • United States