663例食管鳞状细胞癌患者逆转录酶的特征
Characterization of retrocopies in 663 individuals with esophageal squamous cell carcinoma.
摘要(中文译文)
食管鳞状细胞癌（ESCC）是一种常见的胃肠道恶性肿瘤，其病因尚未完全阐明。既往研究已证实结构变异（SVs）在ESCC中的重要作用；然而，逆转录拷贝（retrocopies）作为一种由L1逆转录转座介导的罕见SV形式，常被常规SV分析流程所忽略，其在ESCC中的贡献仍不明确。本研究利用663对ESCC肿瘤-正常样本的多组学数据，构建了ESCC中逆转录拷贝的全面图谱。总体而言，携带涉及癌症相关基因的逆转录拷贝的患者总生存期较差，提示逆转录拷贝在ESCC中具有一定作用。亲本基因在核糖体生物发生和线粒体呼吸链中的富集提示其可能在能量调控中发挥潜在作用。此外，插入位点的特征分析揭示了逆转录拷贝在ESCC中的调控功能。总体而言，本研究表明有必要在癌症研究中对逆转录拷贝进行表征，逆转录拷贝的全面图谱拓展了目前对ESCC病因学的认识。
Abstract
Esophageal squamous cell carcinoma (ESCC) is a common gastrointestinal malignancy with partially known etiology. Previous studies have proved the essential role of structural variations (SVs) in ESCC; however, the contribution of retrocopies, a rare form of SV mediated by the L1 retrotransposition and often neglected by the routine SV pipeline, remains unclear. In this study, we applied multi-omics data of 663 pairs of ESCC tumor-normal samples to generate a comprehensive spectrum of retrocopies on ESCC. Generally, worse overall survival of patients who carried retrocopies involving cancer-associated genes suggested a role of retrocopies in ESCC. The enrichment of parent genes in ribosome biogenesis and mitochondrial respiration chain suggested a potential role in energetic modulation. Additionally, the characterization of insertion sites revealed the regulatory function of retrocopies in ESCC. Overall, this study suggests the need to characterize retrocopies in cancer studies, and the comprehensive landscape of retrocopies extends the current understanding of ESCC etiology.
如何引用
AMA
Xuehan Zhuang, Jianhong Lian, Yong Zhou, Heyang Cui, Jingyun Tan, Wei Mao, et al. Characterization of retrocopies in 663 individuals with esophageal squamous cell carcinoma.. iScience. 2026; doi:10.1016/j.isci.2026.115523.
APA
Xuehan Zhuang, Jianhong Lian, Yong Zhou, Heyang Cui, Jingyun Tan, Wei Mao, et al (2026). Characterization of retrocopies in 663 individuals with esophageal squamous cell carcinoma.. iScience. https://doi.org/10.1016/j.isci.2026.115523
GB/T 7714
Xuehan Zhuang, Jianhong Lian, Yong Zhou, Heyang Cui, Jingyun Tan, Wei Mao, et al. Characterization of retrocopies in 663 individuals with esophageal squamous cell carcinoma.[J]. iScience, 2026 doi:10.1016/j.isci.2026.115523.
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