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Comparative genomic analysis of esophageal squamous cell carcinoma among different geographic regions

INTRODUCTION: Esophageal squamous cell carcinoma (ESCC) shows remarkable variation in incidence, survival, and risk factors. Although the genomic characteristics of ESCC have been extensively characterized, the genomic differences between different geographic regions remain unclear. METHODS: In this...

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Autores principales: Zhang, Ruixiang, Li, Canjun, Wan, Zhiyi, Qin, Jianjun, Li, Yong, Wang, Zhen, Zheng, Qingfeng, Kang, Xiaozheng, Chen, Xiankai, Li, Yun, He, Jie, Li, Yin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9889985/
https://www.ncbi.nlm.nih.gov/pubmed/36741715
http://dx.doi.org/10.3389/fonc.2022.999424
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author Zhang, Ruixiang
Li, Canjun
Wan, Zhiyi
Qin, Jianjun
Li, Yong
Wang, Zhen
Zheng, Qingfeng
Kang, Xiaozheng
Chen, Xiankai
Li, Yun
He, Jie
Li, Yin
author_facet Zhang, Ruixiang
Li, Canjun
Wan, Zhiyi
Qin, Jianjun
Li, Yong
Wang, Zhen
Zheng, Qingfeng
Kang, Xiaozheng
Chen, Xiankai
Li, Yun
He, Jie
Li, Yin
author_sort Zhang, Ruixiang
collection PubMed
description INTRODUCTION: Esophageal squamous cell carcinoma (ESCC) shows remarkable variation in incidence, survival, and risk factors. Although the genomic characteristics of ESCC have been extensively characterized, the genomic differences between different geographic regions remain unclear. METHODS: In this study, we sequenced 111 patients with ESCC from northern (NC) and southern (SC) China, combined their data with those of 1081 cases from previous reports, and performed a comparative analysis among different regions. In total, 644 ESCC cases were collected from six geographic regions (NC, SC, Xinjiang, China [XJC], Japan [JP], Vietnam [VN], and Europe & America [EA]) as the discovery cohort. Validation cohort 1 included 437 patients with ESCC from the NC region. Validation cohort 2 included 54 and 57 patients from the NC and SC regions, respectively. RESULTS: Patients with ESCC in different regions had different genomic characteristics, including DNA signatures, tumor mutation burdens, significantly mutated genes (SMGs), altered signaling pathways, and genes associated with clinical features. Based on both the DNA mutation signature and the mutation profile of the most common genes, the NC and SC groups were clustered close together, followed by the JP, XJC, EA, and VN groups. Compared to patients with ESCC from SC, SMGs, including KMT2D, FAT1, and NOTCH1 were more frequently identified in patients with ESCC from NC. Furthermore, some genes (TDG and DNAH8) correlated with overall survival in completely opposite ways in patients with ESCC from different geographical regions. CONCLUSIONS: Our study provides insights into genomic differences in ESCC among different regions. These differences may be related to differences in environmental carcinogens, incidence, and survival.
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spelling pubmed-98899852023-02-02 Comparative genomic analysis of esophageal squamous cell carcinoma among different geographic regions Zhang, Ruixiang Li, Canjun Wan, Zhiyi Qin, Jianjun Li, Yong Wang, Zhen Zheng, Qingfeng Kang, Xiaozheng Chen, Xiankai Li, Yun He, Jie Li, Yin Front Oncol Oncology INTRODUCTION: Esophageal squamous cell carcinoma (ESCC) shows remarkable variation in incidence, survival, and risk factors. Although the genomic characteristics of ESCC have been extensively characterized, the genomic differences between different geographic regions remain unclear. METHODS: In this study, we sequenced 111 patients with ESCC from northern (NC) and southern (SC) China, combined their data with those of 1081 cases from previous reports, and performed a comparative analysis among different regions. In total, 644 ESCC cases were collected from six geographic regions (NC, SC, Xinjiang, China [XJC], Japan [JP], Vietnam [VN], and Europe & America [EA]) as the discovery cohort. Validation cohort 1 included 437 patients with ESCC from the NC region. Validation cohort 2 included 54 and 57 patients from the NC and SC regions, respectively. RESULTS: Patients with ESCC in different regions had different genomic characteristics, including DNA signatures, tumor mutation burdens, significantly mutated genes (SMGs), altered signaling pathways, and genes associated with clinical features. Based on both the DNA mutation signature and the mutation profile of the most common genes, the NC and SC groups were clustered close together, followed by the JP, XJC, EA, and VN groups. Compared to patients with ESCC from SC, SMGs, including KMT2D, FAT1, and NOTCH1 were more frequently identified in patients with ESCC from NC. Furthermore, some genes (TDG and DNAH8) correlated with overall survival in completely opposite ways in patients with ESCC from different geographical regions. CONCLUSIONS: Our study provides insights into genomic differences in ESCC among different regions. These differences may be related to differences in environmental carcinogens, incidence, and survival. Frontiers Media S.A. 2023-01-18 /pmc/articles/PMC9889985/ /pubmed/36741715 http://dx.doi.org/10.3389/fonc.2022.999424 Text en Copyright © 2023 Zhang, Li, Wan, Qin, Li, Wang, Zheng, Kang, Chen, Li, He and Li 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
Zhang, Ruixiang
Li, Canjun
Wan, Zhiyi
Qin, Jianjun
Li, Yong
Wang, Zhen
Zheng, Qingfeng
Kang, Xiaozheng
Chen, Xiankai
Li, Yun
He, Jie
Li, Yin
Comparative genomic analysis of esophageal squamous cell carcinoma among different geographic regions
title Comparative genomic analysis of esophageal squamous cell carcinoma among different geographic regions
title_full Comparative genomic analysis of esophageal squamous cell carcinoma among different geographic regions
title_fullStr Comparative genomic analysis of esophageal squamous cell carcinoma among different geographic regions
title_full_unstemmed Comparative genomic analysis of esophageal squamous cell carcinoma among different geographic regions
title_short Comparative genomic analysis of esophageal squamous cell carcinoma among different geographic regions
title_sort comparative genomic analysis of esophageal squamous cell carcinoma among different geographic regions
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9889985/
https://www.ncbi.nlm.nih.gov/pubmed/36741715
http://dx.doi.org/10.3389/fonc.2022.999424
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