DOI: 10.1515/mr-2024-0008
Genomic characterization and risk stratification of esophageal squamous dysplasia
Qingjie Min1
Min Zhang2
Dongmei Lin3
Weimin Zhang1
Xianfeng Li4
Lianmei Zhao5
Huajing Teng6
Tao He7
Wei Sun3
Jiawen Fan1
Xiying Yu8
Jie Chen1
Jinting Li1
Xiaohan Gao9
Bin Dong10
Rui Liu1
Xuefeng Liu11
Yongmei Song9
Yongping Cui12
Shih-Hsin Lu8
Ruiqiang Li2
Mingzhou Guo13
Yan Wang14
Qimin Zhan15
1.Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing),Laboratory of Molecular Oncology,Peking University Cancer Hospital & Institute,Beijing,China2.Novogene Co.Ltd,Beijing,China3.Department of Pathology,Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing),Peking University Cancer Hospital & Institute,Beijing,China4.Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing),Laboratory of Molecular Oncology,Peking University Cancer Hospital & Institute,Beijing,China;Department of Gastroenterology,Daping Hospital,Army Medical University(Third Military Medical University),Chongqing,China5.Research Center,The Fourth Hospital of Hebei Medical University,Shijiazhuang,Hebei,China6.Department of Radiation Oncology,Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing),Peking University Cancer Hospital & Institute,Beijing,China7.Department of Gastroenterology & Hepatology,Chinese PLA General Hospital,Beijing,China;Department of Pathology,Characteristic Medical Center of Chinese People's Armed Police Force,Tianjin,China8.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,China9.State Key Laboratory of Molecular Oncology,Cancer Institute and Cancer Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China10.Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing),Central Laboratory,Peking University Cancer Hospital & Institute,Beijing,China11.Institute of Cancer Stem Cell,Dalian Medical University,Dalian,Liaoning,China12.Shenzhen Peking University-The Hong Kong University of Science and Technology(PKU-HKUST)Medical Center,Peking University Shenzhen Hospital,Shenzhen,Guangdong,China13.Department of Gastroenterology & Hepatology,Chinese PLA General Hospital,#28 Fuxing Road,Beijing 100853,China14.Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing),Laboratory of Molecular Oncology,Peking University Cancer Hospital & Institute,Beijing 100142,China15.Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing),Laboratory of Molecular Oncology,Peking University Cancer Hospital & Institute,Beijing 100142,China;Peking University International Cancer Institute,Peking University,Beijing 100191,China;Soochow University Cancer Institute,Suzhou 215000,China;State Key Laboratory of Molecular Oncology,Peking University Cancer Hospital & Institute,Beijing 100142,China;Research Unit of Molecular Cancer Research,Chinese Academy of Medical Sciences,Beijing 100021,China
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 under-standing of ESD genetics and tumorigenesis,which possessed promising significance for improving early diagnosis,reducing overtreatment,and identifying high-risk ESD patients.
机标关键词：genomicriskcharacterdysplasiaesophagealsquamousstratification
论文发表日期：2024-06-28
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：13( 244-256 )
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