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Comprehensive Genomic Landscape in Chinese Clear Cell Renal Cell Carcinoma Patients
Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma (RCC). The genomic landscape in Chinese ccRCC needs to be elucidated. Herein, we investigated the molecular features of Chinese ccRCC patients. Genomic profiling of DNA was performed through next-generation se...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459629/ https://www.ncbi.nlm.nih.gov/pubmed/34568025 http://dx.doi.org/10.3389/fonc.2021.697219 |
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author | Huang, Jiwei Cai, Wen Cai, Biao Kong, Wen Zhai, Wei Zhang, Jin Chen, Yonghui Chen, Shiqing Bai, Yuezong Huang, Yiran Xue, Wei |
author_facet | Huang, Jiwei Cai, Wen Cai, Biao Kong, Wen Zhai, Wei Zhang, Jin Chen, Yonghui Chen, Shiqing Bai, Yuezong Huang, Yiran Xue, Wei |
author_sort | Huang, Jiwei |
collection | PubMed |
description | Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma (RCC). The genomic landscape in Chinese ccRCC needs to be elucidated. Herein, we investigated the molecular features of Chinese ccRCC patients. Genomic profiling of DNA was performed through next-generation sequencing (NGS) in Chinese patients with ccRCC between January 2017 and March 2020. Clinical information including age, gender, and tumor histology was collected. Immunohistochemistry (IHC) staining for PD-L1 expression was performed using PD-L1 IHC 22C3 pharmDx assay or Ventana PD-L1 SP263 assay. Data analyses were performed using R 3.6.1. A total of 880 Chinese ccRCC patients who have undergone NGS were included in this study. The most common somatic alterations were detected in VHL (59.7%), PBRM1 (18.0%), SETD2 (12.2%), BAP1 (10.2%), and TP53 (9.4%). Compared with The Cancer Genome Atlas (TCGA) database, a higher mutation frequency of VHL (59.7% vs. 50.0%, p < 0.001) and TP53 (9.4% vs. 3.5%, p < 0.001) and a lower mutation frequency of PBRM1 (18.0% vs. 31.0%, p < 0.001) were found in the Chinese cohort. Of the 460 patients who were evaluated for PD-L1 expression, 139 (30.2%) had positive PD-L1 expression. The median tumor mutational burden (TMB) value was 4.5 muts/Mb (range, 0–46.0). Five (0.7%) patients were identified as microsatellite instability-high (MSI-H). Furthermore, 52 (5.9%) patients were identified to carry pathogenic or likely pathogenic germline mutations in 22 cancer predisposition genes. This is the first large-scale comprehensive genomic analysis for Chinese ccRCC patients, and these results might provide a better understanding of molecular features in Chinese ccRCC patients, which can lead to an improvement in the personalized treatment for these patients. |
format | Online Article Text |
id | pubmed-8459629 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-84596292021-09-24 Comprehensive Genomic Landscape in Chinese Clear Cell Renal Cell Carcinoma Patients Huang, Jiwei Cai, Wen Cai, Biao Kong, Wen Zhai, Wei Zhang, Jin Chen, Yonghui Chen, Shiqing Bai, Yuezong Huang, Yiran Xue, Wei Front Oncol Oncology Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma (RCC). The genomic landscape in Chinese ccRCC needs to be elucidated. Herein, we investigated the molecular features of Chinese ccRCC patients. Genomic profiling of DNA was performed through next-generation sequencing (NGS) in Chinese patients with ccRCC between January 2017 and March 2020. Clinical information including age, gender, and tumor histology was collected. Immunohistochemistry (IHC) staining for PD-L1 expression was performed using PD-L1 IHC 22C3 pharmDx assay or Ventana PD-L1 SP263 assay. Data analyses were performed using R 3.6.1. A total of 880 Chinese ccRCC patients who have undergone NGS were included in this study. The most common somatic alterations were detected in VHL (59.7%), PBRM1 (18.0%), SETD2 (12.2%), BAP1 (10.2%), and TP53 (9.4%). Compared with The Cancer Genome Atlas (TCGA) database, a higher mutation frequency of VHL (59.7% vs. 50.0%, p < 0.001) and TP53 (9.4% vs. 3.5%, p < 0.001) and a lower mutation frequency of PBRM1 (18.0% vs. 31.0%, p < 0.001) were found in the Chinese cohort. Of the 460 patients who were evaluated for PD-L1 expression, 139 (30.2%) had positive PD-L1 expression. The median tumor mutational burden (TMB) value was 4.5 muts/Mb (range, 0–46.0). Five (0.7%) patients were identified as microsatellite instability-high (MSI-H). Furthermore, 52 (5.9%) patients were identified to carry pathogenic or likely pathogenic germline mutations in 22 cancer predisposition genes. This is the first large-scale comprehensive genomic analysis for Chinese ccRCC patients, and these results might provide a better understanding of molecular features in Chinese ccRCC patients, which can lead to an improvement in the personalized treatment for these patients. Frontiers Media S.A. 2021-09-09 /pmc/articles/PMC8459629/ /pubmed/34568025 http://dx.doi.org/10.3389/fonc.2021.697219 Text en Copyright © 2021 Huang, Cai, Cai, Kong, Zhai, Zhang, Chen, Chen, Bai, Huang and Xue https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Oncology Huang, Jiwei Cai, Wen Cai, Biao Kong, Wen Zhai, Wei Zhang, Jin Chen, Yonghui Chen, Shiqing Bai, Yuezong Huang, Yiran Xue, Wei Comprehensive Genomic Landscape in Chinese Clear Cell Renal Cell Carcinoma Patients |
title | Comprehensive Genomic Landscape in Chinese Clear Cell Renal Cell Carcinoma Patients |
title_full | Comprehensive Genomic Landscape in Chinese Clear Cell Renal Cell Carcinoma Patients |
title_fullStr | Comprehensive Genomic Landscape in Chinese Clear Cell Renal Cell Carcinoma Patients |
title_full_unstemmed | Comprehensive Genomic Landscape in Chinese Clear Cell Renal Cell Carcinoma Patients |
title_short | Comprehensive Genomic Landscape in Chinese Clear Cell Renal Cell Carcinoma Patients |
title_sort | comprehensive genomic landscape in chinese clear cell renal cell carcinoma patients |
topic | Oncology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459629/ https://www.ncbi.nlm.nih.gov/pubmed/34568025 http://dx.doi.org/10.3389/fonc.2021.697219 |
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