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.