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22 April 2019 : Clinical Research  

Genomic Alterations of Renal Cell Carcinoma and Clinical Implications in the Chinese Population

Shudong Zhang1B, Binshuai Wang1C, Fan Zhang1B, Jianfei Ye1E, Liyuan Ge1E, Lulin Ma1A*

DOI: 10.12659/MSM.914493

Med Sci Monit 2019; 25:2959-2965

Abstract

BACKGROUND: The aim of this study was to investigate the genomic alterations of renal cell carcinoma (RCC) in Chinese patients and to evaluate the correlations between significantly mutated genes and tumor mutation burden (TMB) levels in RCC.

MATERIAL AND METHODS: Two batch of specimens were collected from patients with RCC. Cohort 1 enrolled 17 RCC patients. Specimens and clinicopathological data were collected and the duration of disease-free survival were evaluated with a follow-up from 2 weeks to longer than 1 year. Cohort 2 collected 70 clear cell RCC (ccRCC) tissues and blood specimens. Next-generation sequencing were used to detect the genomic variations in those specimens in both cohorts and TMB in cohort 2. Clinicopathological features of the 2 cohorts were collected and the χ² test or Fisher’s exact test was used for categorical variables stratified by TMB values.

RESULTS: Our present study demonstrated that the top 3 most frequent aberrated genes in Chinese ccRCC patients were ABCB1, UGT1A1, and VHL, with percentages of 50.00%, 42.86%, and 34.52% respectively. And only 1 gene, which was ABCB1, showed statistically significant difference (P=0.047) stratified by TMB levels. In addition, 6 oncogenic pathways were involved in ccRCC cases in the 2 cohorts. Only 5 out of the 8 most common altered genes of RCC from COSMIC or TCGA databases were detected in our study.

CONCLUSIONS: The genomic alterations of Chinese RCC patients were different from that in TCGA and COSMIC. No significant genomic alterations were found correlating to TMB levels in ccRCC. Non-silent mutation of VHL may be a predictor for the outcome of ccRCC treated with axitinib.

Keywords: Angiogenesis Inducing Agents, Carcinoma, Renal Cell, Genetic Heterogeneity, Population Groups, ATP Binding Cassette Transporter, Subfamily B, Aged, Aged, 80 and over, Asians, China, Cohort Studies, Disease-Free Survival, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Genome, Human, Genomics, Glucuronosyltransferase, High-Throughput Nucleotide Sequencing, Kidney Neoplasms, Middle Aged, Mutation, Von Hippel-Lindau Tumor Suppressor Protein

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Science Editor, Medical Science Monitor, International Scientific Information, Inc., Melville, NY, USA

DOI: 10.12659/MSM.938532

Med Sci Monit 2022; 28:e938532

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750