Clinicopathological and prognostic impact of somatic mutations in Chinese patients with clear cell renal cell carcinoma

Hai Bi; Jipeng Yin; Lang Zhou; Yaqian Wu; Liyuan Ge; Min Lu; Lei Liu; Hongxian Zhang; Yongzhe Zhao; Cheng Liu; Lulin Ma

doi:10.21037/tau-20-1410

Clinicopathological and prognostic impact of somatic mutations in Chinese patients with clear cell renal cell carcinoma

Transl Androl Urol. 2020 Dec;9(6):2751-2763. doi: 10.21037/tau-20-1410.

Authors

Hai Bi¹, Jipeng Yin¹, Lang Zhou¹, Yaqian Wu¹, Liyuan Ge¹, Min Lu², Lei Liu¹, Hongxian Zhang¹, Yongzhe Zhao³, Cheng Liu¹, Lulin Ma¹

Affiliations

¹ Department of Urology, Peking University Third Hospital, Beijing, China.
² Department of Pathology, Peking University Third Hospital, Beijing, China.
³ Department of Urology, Peking University Third Hospital Yanqing Hospital, Beijing, China.

Abstract

Background: The study of the genomic landscape of Chinese clear cell renal cell carcinoma (ccRCC) entered its nascence in recent years, and the clinical relevance of individual genes in Chinese ccRCC has not yet been researched. The study aimed to explore the relationships between somatic mutations and clinical behaviors in Chinese ccRCC.

Methods: Tumor tissue samples were obtained from 105 Chinese patients with ccRCC and deep sequencing targeting 556 cancer genes was performed. Correlation analysis, receiver operator characteristic (ROC) analysis and survival analysis were carried out using SPSS software.

Results: A total of 41 genes were used to investigate the relationship between genes and clinical behaviors. We found that different clinical indices were mutually correlated, and there were 12 genes associated with clinical indices. The Kaplan-Meier curves showed that high Fuhrman grade and metastatic disease at diagnosis were significantly associated with poor prognosis. Mutations in BAP1, PTEN, ERBB2, TP53, CDK8, TSC1, SETD2, or SPEN were significantly associated with poor prognosis, consistent with the results of The Cancer Genome Atlas (TCGA) cohort. Mutation of BTG1 occurred much more frequently in Chinese ccRCC (10.5%) than in the TCGA cohort (0.60%), and it was associated with a better prognosis.

Conclusions: A total of 8 genes (BAP1, PTEN, ERBB2, TP53, CDK8, TSC1, SETD2, and SPEN) were found to be associated with poor prognosis of ccRCC, and a new gene (BTG1) was possibly associated with the good prognosis of Chinese ccRCC.

Keywords: Clear cell renal cell carcinoma (ccRCC); correlation analysis; prognostic biomarker; survival analysis; targeted next-generation sequencing (targeted NGS).