Abstract
Background
Esophageal squamous cell carcinoma (ESCC) is a highly heterogeneous cancer that lacks comprehensive understanding and effective treatment. Although multi-omics study has revealed features and underlying drivers of advanced ESCC, research on molecular characteristics of the early stage ESCC is quite limited.
Materials and methods
We presented characteristics of genomics and transcriptomics in 10 matched pairs of tumor and normal tissues of early ESCC patients in the China region.
Results
We identified the specific patterns of cancer gene mutations and copy number variations. We also found a dramatic change in the transcriptome, with more than 4,000 genes upregulated in cancer. Among them, more than one-third of HOX family genes were specifically and highly expressed in early ESCC samples of China and validated by RT-qPCR. Gene regulation network analysis indicated that alteration of Hox family genes promoted the proliferation and metabolism remodeling of early ESCC.
Conclusions
We characterized the genomic and transcriptomic landscape of 10 paired normal adjacent and early ESCC tissues in the China region, and provided a new perspective to understand the development of ESCC and insight into potential prevention and diagnostic targets for the management of early ESCC in China.
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Background
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The Functionalities and Clinical Significance of Tumor-Infiltrating Immune Cells in Esophageal Squamous Cell Carcinoma. Biomed Res Int. 2021;2021:8635381. https://doi.org/10.1155/2021/8635381. Yuan J, Weng Z, Tan Z, Luo K, Zhong J, **e X, et al. Th1-involved immune infiltrates improve neoadjuvant chemoradiotherapy response of esophageal squamous cell carcinoma. Cancer Lett. 2023;553:215959. https://doi.org/10.1016/j.canlet.2022.215959. Not applicable. This research was funded by the Natural Science Foundation of Fujian Province of China, grant number 2019J01170 and the Natural Science Foundation of Gansu Province of China, grant number 21JR1RA021. Cai** Li, Jianjun Wang, Zhixiang Hu and Shenglin Huang designed the study; Cai** Li collected the data and clinical information; **g**g Zhao, Hena Zhang performed the bioinformatics analysis; Qiaojuan Li conducted the experiments; **g**g Zhao, **ya Jia and Zhixiang Hu wrote and revised the manuscript. All authors have read and agreed to the published version of the manuscript. The study was implemented in accordance with Declaration of Helsinki and relevant guidelines by the institutional ethics committee. The study was approved by Ethics Committee of Second Affiliated Hospital of Fujian Medical University (Approval-Number: 2020-246, 2020-05-22). All methods were carried out in accordance with relevant guidelines and regulations under the ethical approval. All patients gave their informed consents. Not applicable. The authors declare no competing interests. Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Figure S1. The 8p11.23 amplification impacted the transcriptome. Table S1. A summary of variations of early ESCC by WES. Table S2. The DEGs between tumor and normal. TableS3. Clinical data of the patients in this study. Table S4. TCGA samples used in the study. Table S5. Primers and RNA sequences used in this study. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. Zhao, J., Jia, X., Li, Q. et al. Genomic and transcriptional characterization of early esophageal squamous cell carcinoma.
BMC Med Genomics 16, 153 (2023). https://doi.org/10.1186/s12920-023-01588-7 Received: Accepted: Published: DOI: https://doi.org/10.1186/s12920-023-01588-7Availability of data and materials
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