Cytogenetics of renal cell carcinomas associated with von hippel‐Lindau disease

Publisher Website
Google Scholar
Abstract
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 3p 13‐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 5q22‐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 3p 13‐pter region containing one or more putative suppressor genes.