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

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/METHODS: Two batch of specimens were collected f...

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Autores principales: Zhang, Shudong, Wang, Binshuai, Zhang, Fan, Ye, Jianfei, Ge, Liyuan, Ma, Lulin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6489529/
https://www.ncbi.nlm.nih.gov/pubmed/31007253
http://dx.doi.org/10.12659/MSM.914493
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author Zhang, Shudong
Wang, Binshuai
Zhang, Fan
Ye, Jianfei
Ge, Liyuan
Ma, Lulin
author_facet Zhang, Shudong
Wang, Binshuai
Zhang, Fan
Ye, Jianfei
Ge, Liyuan
Ma, Lulin
author_sort Zhang, Shudong
collection PubMed
description 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/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 χ(2) 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.
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spelling pubmed-64895292019-05-03 Genomic Alterations of Renal Cell Carcinoma and Clinical Implications in the Chinese Population Zhang, Shudong Wang, Binshuai Zhang, Fan Ye, Jianfei Ge, Liyuan Ma, Lulin Med Sci Monit Clinical Research 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/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 χ(2) 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. International Scientific Literature, Inc. 2019-04-22 /pmc/articles/PMC6489529/ /pubmed/31007253 http://dx.doi.org/10.12659/MSM.914493 Text en © Med Sci Monit, 2019 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) )
spellingShingle Clinical Research
Zhang, Shudong
Wang, Binshuai
Zhang, Fan
Ye, Jianfei
Ge, Liyuan
Ma, Lulin
Genomic Alterations of Renal Cell Carcinoma and Clinical Implications in the Chinese Population
title Genomic Alterations of Renal Cell Carcinoma and Clinical Implications in the Chinese Population
title_full Genomic Alterations of Renal Cell Carcinoma and Clinical Implications in the Chinese Population
title_fullStr Genomic Alterations of Renal Cell Carcinoma and Clinical Implications in the Chinese Population
title_full_unstemmed Genomic Alterations of Renal Cell Carcinoma and Clinical Implications in the Chinese Population
title_short Genomic Alterations of Renal Cell Carcinoma and Clinical Implications in the Chinese Population
title_sort genomic alterations of renal cell carcinoma and clinical implications in the chinese population
topic Clinical Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6489529/
https://www.ncbi.nlm.nih.gov/pubmed/31007253
http://dx.doi.org/10.12659/MSM.914493
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