Comprehensive Analysis of Somatic Mutation in Clear Cell Renal Cell Carcinoma.

Background: Renal cell carcinoma (RCC) is a common malignancy of the genitourinary system and clear cell renal cell carcinoma (ccRCC) is the most representative subtype. The morbidity and mortality of ccRCC have gradually risen during recent years; however, the pathogenesis and potential biomarkers remain unclear. The purpose of our study was to find out prognostic genes correlated with somatic mutation and the underlying mechanisms of mutation in ccRCC.

Methods: Somatic mutation data of two ccRCC cohorts were acquired from TCGA and cBioPortal. Genes frequently mutated in both datasets were extracted, from which tumor mutation burden and survival analysis revealed three prognostic genes. Further comprehensive analysis of mutation was carried out to identify differentially expressed genes and apply functional annotations. The correlation of mutation and tumor immunity was also evaluated.

Results: , , and mutations were associated with both tumor mutation burden and clinical prognosis in ccRCC. Gene enrichment analysis suggested the effects of mutation on biological processes and pathways linked to energy metabolism. mutation was also correlated with anti-tumor immunity. There were several limitations in the sample size and cohort availability of the present computational study.

Conclusions: The present results inferred that mutation might have an important clinical significance for ccRCC patients by regulating metabolism and the immune microenvironment.