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

Journal Article (Journal Article)

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.

Duke Authors

Cited Authors

  • Thiel, G; Marczinek, K; Neumann, R; Witkowski, R; Marchuk, DA; Nurnberg, P

Published Date

  • December 1, 1995

Published In

Volume / Issue

  • 15 / 6 B

Start / End Page

  • 2495 - 2499

International Standard Serial Number (ISSN)

  • 0250-7005

Citation Source

  • Scopus