Deletion mapping in human renal cell carcinoma.

The highest incidence of renal cell carcinoma (RCC) is reported in Scandinavia. Cytogenetic studies of constitutional tissue in families with hereditary RCC and of sporadic RCC tumor tissue have shown abnormalities of chromosome 3p. In a study of 23 sporadic Scandinavian cases using restriction fragment length polymorphism analysis, we found that 68% of informative patients showed terminal 3p deletions. The break point was not consistent. Loss of a locus on the Y chromosome was seen in 4/14 male patients. Losses of heterozygosity on autosomes included chromosomes 18 (5/15 informative cases) and 17 (3/11 informative cases). Losses in heterozygosity were also found at lower levels for other chromosomes (chromosome 13, 3/16; chromosome 10, 2/19; and chromosome 11, 2/24). The single familial case showed reduplication of part of chromosome 3p and of one chromosome 17. Our data confirm earlier data on losses on chromosome 3p in tumor tissue and by extending this type of analysis to all chromosomes, demonstrate the specificity of this loss. No unique findings were made in the sporadic Scandinavian cases. The results support the thesis that a tumor suppressor gene involved in the oncogenesis of RCC may be located distal to the DNF15S2 locus on chromosome 3p.