Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15)

We identified a novel familial case of clear-cell renal cancer and a t(3;6) (q12;q15). Subsequent cytogenetic and molecular analyses showed the presenc e of several abnormalities within tumour samples obtained from different pa tients. Loss of the der(3) chromosome was noted in some, but not all, of th e samples. A concomitant VHL gene mutation was found in one of the samples. In addition, cytogenetic and molecular evidence for heterogeneity was obta ined through analysis of several biopsy samples from one of the tumours. Ba sed on these results and those reported in the literature, we conclude that loss of der(3) and subsequent VHL gene mutation may represent critical ste ps in the development of renal cell cancers in persons carrying the chromos ome 3 translocation. Moreover, preliminary data suggest that other (epi)gen etic changes may be related to tumour initiation, (C) 2001 Wiley-Liss, Inc.