Molecular genetics of renal cell carcinoma

Abstract

Significant research progress over the last few years has identified several major genetics contributors to RCC. A new classification of RCC validated by cytogenetic and molecular studies has been proposed including nonpapillary, papillary, chromophobe and oncocytic tumors. The cytogenetic analysis of patients with familial RCC, VHL disease and sporadic RCC have shown that WHL gene located on chromosome 3P 25 is a tumor suppressor gene. Other genes may be involved in the development of RCC, however with a less important incidence than VHL gene. Mutations of Rb and P53 genes can be associated with metastatic disease, mutations of the ras gene is rare whereas elevated level of myc oncogene are frequent but of little prognostic value. Controversial the role of ploidy and proliferation markers as independent prognostic factors.