Cytogenetics of renal cell carcinomas associated with von Hippel-Lindau disease

To establish the chromosome pattern, we have analyzed short-term cultures of 24 renal cell carcinomas (RCC) from four patients with von Hippel-Lindau disease (VHL). We evaluated the results together with those for 16 RCCs from two VHL patients karyotyped previously in our laboratory and those of 6 tumors published by others. In all 46 RCCs, the cells had lost the shortest overlapping region of the 3pl3-pter chromosome segment. The rearrangement of 3p was the only karyotype change in 20 tumors. In more than 50% of the tumors, a gain of the shortest overlapping region of the 5122-qter segment was detected. Comparative analysis showed that the chromosome aberrations in RCCs associated with VHL are similar to those found in sporadic RCCs. These results indicate that non-papillary sporadic and VHL-RCCs have common genetic mechanisms that result in the loss of the 3p13-pter region containing one or more putative suppressor genes.