Genomic characterization and risk stratification of esophageal squamous dysplasia  

作　　者：Qingjie Min Min Zhang Dongmei Lin Weimin Zhang Xianfeng Li Lianmei Zhao Huajing Teng Tao He Wei Sun Jiawen Fan Xiying Yu Jie Chen Jinting Li Xiaohan Gao Bin Dong Rui Liu Xuefeng Liu Yongmei Song Yongping Cui Shih-Hsin Lu Ruiqiang Li Mingzhou Guo Yan Wang Qimin Zhan 

机构地区：[1]Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing),Laboratory of Molecular Oncology,Peking University Cancer Hospital&Institute,Beijing,China [2]Novogene Co.Ltd,Beijing,China [3]Department of Pathology,Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing),Peking University Cancer Hospital&Institute,Beijing,China [4]Department of Gastroenterology,Daping Hospital,Army Medical University(Third Military Medical University),Chongqing,China [5]Research Center,The Fourth Hospital of Hebei Medical University,Shijiazhuang,Hebei,China [6]Department of Radiation Oncology,Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing),Peking University Cancer Hospital&Institute,Beijing,China [7]Department of Gastroenterology&Hepatology,Chinese PLA General Hospital,Beijing,China [8]Department of Etiology and Carcinogenesis and State Key Laboratory of Molecular Oncology,National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China [9]State Key Laboratory of Molecular Oncology,Cancer Institute and Cancer Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China [10]Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing),Central Laboratory,Peking University Cancer Hospital&Institute,Beijing,China [11]Institute of Cancer Stem Cell,Dalian Medical University,Dalian,Liaoning,China [12]Shenzhen Peking University-The Hong Kong University of Science and Technology(PKU-HKUST)Medical Center,Peking University Shenzhen Hospital,Shenzhen,Guangdong,China

出　　处：《Medical Review》2024年第3期244-256,共13页医学评论（英文）

基　　金：supported by the National Natural Science Foundation of China(81988101 and 81830086 to Q.Zhan,82173152 to Y.Wang);‘Beijing Municipal Administration of Hospitals’Mission Plan(SML20181101);Guangdong Basic and Applied Basic Research Foundation(No.2019B030302012);Science Foundation of Peking University Cancer Hospital(17-01,2022-28);CAMS Innovation Fund for Medical Sciences(2019-I2M-5-081);PKU-Baidu Fund(Project 2019BD012);Suzhou Top-Notch Talent Groups(ZXD2022003);also supported by National Institute of Health Data Science of Peking University。

摘　　要：Objectives:The majority of esophageal squamous dysplasia(ESD)patients progress slowly,while a subset of patients can undergo recurrence rapidly or progress to invasive cancer even after proper treatment.However,the molecular mechanisms underlying these clinical observations are still largely unknown.Methods:By sequencing the genomic data of 160 clinical samples from 49 tumor-free ESD patients and 88 esophageal squamous cell carcinoma(ESCC)patients,we demonstrated lower somatic mutation and copy number alteration(CNA)burden in ESD compared with ESCC.Results:Cross-species screening and functional assays identified ACSM5 as a novel driver gene for ESD progression.Furthermore,we revealed that miR-4292 promoted ESD progression and could serve as a non-invasive diagnostic marker for ESD.Conclusions:These findings largely expanded our understanding of ESD genetics and tumorigenesis,which possessed promising significance for improving early diagnosis,reducing overtreatment,and identifying high-risk ESD patients.

关 键 词：esophageal squamous dysplasia genomic alteration ACSM5 early diagnosis miR-4292 

分 类 号：R735.1[医药卫生—肿瘤]