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- Title
Comparative genomic analysis of esophageal squamous cell carcinoma among different geographic regions.
- Authors
Ruixiang Zhang; Canjun Li; Zhiyi Wan; Jianjun Qin; Yong Li; Zhen Wang; Qingfeng Zheng; Xiaozheng Kang; Xiankai Chen; Yun Li; Jie He; Yin Li
- Abstract
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 fromprevious 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.
- Subjects
VIETNAM; JAPAN; SQUAMOUS cell carcinoma; GENOMICS; ESOPHAGEAL cancer; COMPARATIVE studies
- Publication
Frontiers in Oncology, 2023, Vol 13, p1
- ISSN
2234-943X
- Publication type
Article
- DOI
10.3389/fonc.2022.999424