Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22.
To investigate the role of tumour-suppressor genes on the short arm of chromosome 3 in the mechanism of tumorigenesis in non-familial renal cell carcinoma, we analysed 55 paired blood-tumour DNA samples for allele loss on chromosome 3p and in the region of known or putative tumour-suppressor genes on chromosomes 5, 11, 17 and 22. Sixty-four per cent (35/55) of informative tumours showed loss of heterozygosity (LOH) of at least one locus on the short arm of chromosome 3, compared with only 13% at the p53 tumour-suppressor gene and 6% at 17q21. LOH at chromosome 5q21 and 22q was uncommon (2-3%). Detailed analysis of the regions of LOH on chromosome 3p suggested that, in addition to the VHL gene in chromosome 3p25-p26, mutations in one or more tumour-suppressor genes in chromosome 3p13-p24 may be involved in the pathogenesis of sporadic renal cell carcinoma (RCC). We also confirmed previous suggestions that chromosome 3p allele loss is not a feature of papillary RCC (P < 0.05).
Foster
K
K
Department of Pathology, Cambridge University, UK.
Crossey
P A
PA
Cairns
P
P
Hetherington
J W
JW
Richards
F M
FM
Jones
M H
MH
Bentley
E
E
Affara
N A
NA
Ferguson-Smith
M A
MA
Maher
E R
ER
D000328:Adult; D000368:Aged; D000483:Alleles; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D002893:Chromosomes, Human, Pair 3; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006579:Heterozygote; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged