Human Genetics

, Volume 107, Issue 4, pp 350–356

Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours

  • Lee Parry
  • Julie Maynard
  • Amit Patel
  • Angela Hodges
  • Andreas von Deimling
  • Julian Sampson
  • Jeremy Cheadle
Original Investigation

DOI: 10.1007/s004390000390

Cite this article as:
Parry, L., Maynard, J., Patel, A. et al. Hum Genet (2000) 107: 350. doi:10.1007/s004390000390

Abstract.

Reduced expression of the TSC2 tumour suppressor gene product, tuberin, has been reported in sporadic astrocytomas, suggesting that the TSC genes may play a role in formation of sporadic glial or glioneuronal tumours. We studied paired constitutional and tumour DNA samples from 100 patients with sporadic glial and glioneuronal tumours for loss of heterozygosity (LOH) at the TSC1 and TSC2 loci using a combination of seven previously reported and seven novel polymorphic markers. LOH was seen in 1/16 astrocytomas, 3/15 ependymomas, 5/16 gangliogliomas, 2/14 glioblastoma multiforme, 0/7 oligodendrogliomas, 0/7 tumours of mixed oligodendrocytic/astrocytic histology, 2/11 pilocytic astrocytomas and 0/1 subependymal giant cell astrocytomas informative at both loci. However, SSCP screening of all coding exons of the TSC1 or TSC2 genes in the tumours displaying LOH, and of both genes in 21 gangliogliomas, revealed no intragenic mutations. The lack of demonstrable inactivation of both alleles of either TSC gene in any of the tumours investigated suggests that they do not play a frequent role in the aetiology of sporadic glial or glioneuronal tumours.

Copyright information

© Springer-Verlag 2000

Authors and Affiliations

  • Lee Parry
    • 1
  • Julie Maynard
    • 1
  • Amit Patel
    • 1
  • Angela Hodges
    • 1
  • Andreas von Deimling
    • 2
  • Julian Sampson
    • 1
  • Jeremy Cheadle
    • 1
  1. 1.Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
  2. 2.Institute for Neuropathology, Charite-Humboldt University, 13353 Berlin, Germany