Intratumoural mutation profiles in clear cell renal cell carcinoma by targeted sequencing

Traditionally, intratumoural heterogeneity in primary clear cell renal cell carcinoma (ccRCC) is morphologically defined, using WHO/ISUP tumour grading systems. This study aimed to use targeted sequencing (TS) to identify the intratumoural heterogeneity of mutational landscape and relating this to tumour grade and the location within the tumour.ccRCC of three Indonesian patients have been studied. We performed whole exome sequencing (WES) on one patient and PCR-based TS on four different ccRCC regions of one patient, and PCR-based TS only on 12 different ccRCC regions of FFPE samples from two other patients and their matched normal kidney tissues. The custom panel consists of 42 most commonly mutated genes in ccRCC. In each patient, DNA from different regional tumour grades were isolated separately in serial sections of paraffin blocks.