Beijing Advanced Innovation Center for Genomics (ICG), Biomedical Pioneering Innovation Center (BIOPIC), Peking University, Beijing, China.
Department of Etiology and Carcinogenesis, National Cancer Center/National Clinical Research Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Nat Commun. 2020 Nov 30;11(1):6091. doi: 10.1038/s41467-020-19949-6.
Adenocarcinoma at the gastroesophageal junction (ACGEJ) has dismal clinical outcomes, and there are currently few specific effective therapies because of limited knowledge on its genomic and transcriptomic alterations. The present study investigates genomic and transcriptomic changes in ACGEJ from Chinese patients and analyzes their drug vulnerabilities and associations with the survival time. Here we show that the major genomic changes of Chinese ACGEJ patients are chromosome instability promoted tumorigenic focal copy-number variations and COSMIC Signature 17-featured single nucleotide variations. We provide a comprehensive profile of genetic changes that are potentially vulnerable to existing therapeutic agents and identify Signature 17-correlated IFN-α response pathway as a prognostic marker that might have practical value for clinical prognosis of ACGEJ. These findings further our understanding on the molecular biology of ACGEJ and may help develop more effective therapeutic strategies.
胃食管结合部腺癌（Adenocarcinoma at the gastroesophageal junction，ACGEJ）的临床预后较差，由于对其基因组和转录组改变的了解有限，目前几乎没有特定的有效治疗方法。本研究旨在探讨中国 ACGEJ 患者的基因组和转录组变化，并分析其药物易感性与生存时间的关系。结果表明，中国 ACGEJ 患者的主要基因组变化是促进肿瘤发生的局灶性拷贝数变异和 COSMIC Signature 17 特征性单核苷酸变异，这些变化可能与现有的治疗药物相关。同时，研究还发现 Signature 17 相关的 IFN-α反应通路是一个预后标志物，可能对 ACGEJ 的临床预后具有实际价值。这些发现进一步加深了我们对 ACGEJ 分子生物学的认识，并可能有助于开发更有效的治疗策略。
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