ABSTRACT

R enal neoplasms account for 3% o f adult malignancies with approximately 27,000 cases and more dian 10,000 deaths in the US each year.1 In children renal tumors, predominantly Wilms tumor, account for 8% of cancers. Many different categories of benign and malignant tumor are now dis­ tinguished based on histopathological appear­ ance. In addition to W ilms tumor and mesoblastic nepthroma in children, .papillary and nonpapillary renal cell carcinomas, chro­ mophobe tumors, renal oncocytoma and col­ lecting duct tumors are recognized in adults. Although considerable attention has been directed towards understanding the molecu­ lar mechanisms o f development o f these can­ cers, to date only a handful o f the genes involved in the development of this group o f diseases have been identified. This chapter is not intended to represent a comprehensive review o f this work but instead will focus on the descrip­ tion o f translocations found predominantly within a subgroup o f papillary renal tumors. The discovery o f these recurrent translocations in renal carcinomas may be considered o f par­ ticular importance because the majority of chro­ mosomal translocations previously documented at the molecular level have been found in sarco­ mas and leukemias. The only other examples o f recurrent translocation found in human carci­ noma are the recurrent translocations involv­ ing the RET and TRK genes found in papil­ lary thyroid cancer (see Chapter 10). Isolated cases o f translocations have, however, been

characterized in other carcinoma types. For example, the fusions involving the TPC and HPR genes found in the LNCaP prostate can­ cer cell line2 and fusions involving the tro­ pomyosin and 77?/fgene found in a colorectal carcinoma cell line.3 To place the work on renal carcinoma translocations in context, related areas will briefly be considered. For more detailed reviews ofWilms tumor the reader should con­ sult references 4 and 5.