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Conventional renal cell carcinoma (CRCC) may appear in families with germline translocations involving chromosome 3, although a recurrent responsible gene has not been found. We recently described a family with CRCC and a constitutional t(3;8)(p14.1;q24.23), and we demonstrated that no genes were disrupted by the translocation breakpoints. In order to investigate the genetic origin and features of the CRCC tumors that occurred in this family, we have extended the pedigree up to four generations, and analyzed peripheral blood samples from 36 members, CRCC tumors, normal renal tissues, and a gastric tumor. (1) By means of comparative genomic hybridization (CGH), we have detected loss of the derivative chromosome carrying 3p in all CRCC but not in the corresponding normal renal tissue. In addition, by means of the fluorescence in situ hybridization technique, we have observed that not all tumoral cells lose the der(3p), which suggests that, previous to this loss, another hit should occur to initiate the transformation of normal into tumoral cells. (2) All known mechanisms of inactivation of the candidate von Hippel-Lindau (VHL) gene have been studied in the tumors, detecting alterations in 65% of them. This confirms that inactivation of the VHL gene is not always required to develop CRCC, and that (an)other suppressor gene(s) on 3p could be involved. (3) We discard FHIT as an alternative pathway to VHL. We have not found new candidate regions along 3p by using a 1-Mb resolution array-based CGH. (4) The tumorigenesis mechanism of a second gastric tumor developed in the probandus is different from that of CRCC.

About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family