Targeted genomic landscape of metastases compared to primary tumours in clear cell metastatic renal cell carcinoma.

ABSTRACT: BACKGROUND:The genomic landscape of primary clear cell renal cell carcinoma (ccRCC) has been well described. However, little is known about cohort genomic alterations (GA) landscape in ccRCC metastases, or how it compares to primary tumours in aggregate. The genomic landscape of metastases may have biological, clinical, and therapeutic implications. METHODS:We collected targeted next-generation sequencing mutation calls from two independent cohorts and described the metastases GA landscape and descriptively compared it to the GA landscape in primary tumours. RESULTS:The cohort 1 (n = 578) consisted of 349 primary tumours and 229 metastases. Overall, the most common mutations in the metastases were VHL (66.8%), PBRM1 (41.87%), and SETD2 (24.7%). TP53 was more frequently mutated in metastase

SUBMITTER: de Velasco G 

PROVIDER: S-EPMC5943584 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature