The Importance of Pathology and Genetics for the Diagnosis and Therapy of Renal Cell Carcinoma

Recent efforts in cytogenetic and molecular genetic research have brought insights and correlations of phenotypes and genotypes in renal cell carcinoma (RCC). Based on the knowledge of these different cytogenetic pathways, an intensive research investigated molecular changes that were associated with these chromosomal aberrations. This finally led to the discovery of important tumour suppressor genes such as the von Hippel-Lindau gene (VHL) in clear-cell RCC and oncogenes that are involved in cell cycle regulation and differentiation. Our refined understanding of the molecular pathways involved in renal carcinogenesis has provided a rationale for novel therapeutics that specifically target molecules of aberrantly activated pathways. This article provides an overview of pathology and genetics of renal neoplasms, insights into the pivotal role of the VHL protein, a description of techniques to identify genes that might play a role in tumour biology or represent candidate diagnostic markers, and a summary of molecular targets for the therapy of RCC.