Familial renal cell carcinoma with a 3;11 chromosome translocation limited to tumor cells.
Cytogenic studies were performed on the direct chromosome preparations of the renal cell carcinoma cells and the cultured peripheral blood lymphocytes of a patient with familial renal cell carcinoma. The results revealed a specific, acquired translocations (3p;11p) present in the majority of metaphases of the tumor, indicating that the development of renal cell carcinoma is associated with a deletion in the proximal end of 3p. Renal cell carcinoma is thus the third example--the first two being retinoblastoma and Wilms' tumor--of a chromosomal deletion occurring germinally or somatically in association with a specific tumor. This finding adds further support to the existence of specific human cancer genes.
D000230:Adenocarcinoma / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000235:genetics*; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic