Regular Article

British Journal of Cancer (2001) 85, 1226–1230. doi:10.1054/bjoc.2001.2072
Published online 16 October 2001

Analysis of the TSC1and TSC2genes in sporadic renal cell carcinomas

L Parry1, J H Maynard1, A Patel1, S C Clifford2, C Morrissey2, E R Maher2, J P Cheadle1 and J R Sampson1

  1. 1Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, CF14 4XN, UK
  2. 2Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham, UK

Received 4 December 2000; Revised 19 July 2001; Accepted 24 July 2001



The genetic events involved in the aetiology of non-clear-cell renal cell carcinoma (RCC) and a proportion of clear cell RCC remain to be defined. Germline mutations of the TSC1and TSC2genes cause tuberous sclerosis (TSC), a multi-system hamartoma syndrome that is also associated with RCC. We assessed 17 sporadic clear cell RCCs with a previously identified VHLmutation, 15 clear-cell RCCs without an identified VHLmutation and 15 non-clear-cell RCCs for loss of heterozygosity (LOH) at chromosomes 9q34 and 16p13.3, the chromosomal locations of TSC1and TSC2. LOH was detected in 4/9, 1/11 and 3/13 cases informative at both loci. SSCP analysis of the whole coding region of the retained allele did not reveal any cases with a detectable intragenic second somatic mutation. Furthermore, RT-PCR analysis of TSC1and TSC2on total RNA from 8 clear-cell RCC cell lines confirmed expression of both TSC genes. These data indicate that biallelic inactivation of TSC1or TSC2is not frequent in sporadic RCC and suggests that the molecular mechanisms of renal carcinogenesis in TSC are likely to be distinct. © 2001 Cancer Research Campaign


TSC1; TSC2; sporadic renal cell carcinoma



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