Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Jiwei, Cai, Wen, Cai, Biao, Kong, Wen, Zhai, Wei, Zhang, Jin, Chen, Yonghui, Chen, Shiqing, Bai, Yuezong, Huang, Yiran, Xue, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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
_version_ 1784571566591311872
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
work_keys_str_mv AT huangjiwei comprehensivegenomiclandscapeinchineseclearcellrenalcellcarcinomapatients
AT caiwen comprehensivegenomiclandscapeinchineseclearcellrenalcellcarcinomapatients
AT caibiao comprehensivegenomiclandscapeinchineseclearcellrenalcellcarcinomapatients
AT kongwen comprehensivegenomiclandscapeinchineseclearcellrenalcellcarcinomapatients
AT zhaiwei comprehensivegenomiclandscapeinchineseclearcellrenalcellcarcinomapatients
AT zhangjin comprehensivegenomiclandscapeinchineseclearcellrenalcellcarcinomapatients
AT chenyonghui comprehensivegenomiclandscapeinchineseclearcellrenalcellcarcinomapatients
AT chenshiqing comprehensivegenomiclandscapeinchineseclearcellrenalcellcarcinomapatients
AT baiyuezong comprehensivegenomiclandscapeinchineseclearcellrenalcellcarcinomapatients
AT huangyiran comprehensivegenomiclandscapeinchineseclearcellrenalcellcarcinomapatients
AT xuewei comprehensivegenomiclandscapeinchineseclearcellrenalcellcarcinomapatients