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

Nat Genet. 1993 Feb;3(2):122-6. doi: 10.1038/ng0293-122.


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.

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Chromosomes, Human, Pair 17
  • Cloning, Molecular
  • DNA, Neoplasm / genetics
  • Female
  • Genes, Neurofibromatosis 1*
  • Genes, Tumor Suppressor
  • Homozygote
  • Humans
  • Models, Genetic
  • Molecular Sequence Data
  • Neurofibromatosis 1 / complications
  • Neurofibromatosis 1 / genetics*
  • Sequence Deletion*


  • DNA, Neoplasm