Intratumoral heterogeneity in kidney cancer

Abstract

Clear cell renal cell carcinoma (CCRCC) is characterized by mutation of the VHL gene and loss of a segment of chromosome 3. A new study using multi-region exome sequencing has identified substantial intratumoral heterogeneity within large primary CCRCCs, which has profound implications for understanding tumor evolution and for developing effective therapies.

Figure 1

Clear cell renal cell carcinoma is characterized by substantial genomic heterogeneity during tumor development. Potential approaches to identify targeted therapy could involve multi-region exome sequencing (M-Seq) of multiple primary tumor foci to identify common driver mutations. Alternatively, or in addition, tumors from metastatic sites could undergo sequence analysis to identify driver mutations essential for the development of metastases.