作者：聂宇魁，余超，郭勤平，何若冲

单位：山西医科大学第三医院(山西白求恩医院/山西医学科学院/同济山西医院)  胃肠外科，山西 太原 030032

Authors: Nie Yukui, Yu Chao, Guo Qinping, He Ruochong

Unit:  Department of Gastrointestinal Surgery, Third Hospital of Shanxi Medical University (Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences，Tongji Shanxi Hospital), Taiyuan 030032, Shanxi, China

摘要：

消化道肿瘤发病率高，起病隐匿，且预后较差。传统的筛查方法存在创伤性、滞后性、敏感度及特异度低等不足，导致其在消化道肿瘤早期筛查中的推广应用受到限制。循环肿瘤DNA (circulating tumor DNA，ctDNA) 是由肿瘤细胞坏死或凋亡后释放到体液中的游离DNA 片段，携带有突变、重排和甲基化等肿瘤特异性改变的遗传信息，与传统组织活检相比，ctDNA检测具有敏感度和特异度高、无创、易获得以及可重复性好的优势，在消化道肿瘤早期筛查中有很大潜力。本文通过对ctDNA在消化道肿瘤早期筛查中的研究现状作一综述，旨在评估ctDNA在消化道肿瘤诊断中的潜在价值，为探索消化道肿瘤的早期诊断手段提供理论依据。

关键词： 循环肿瘤DNA；消化道肿瘤；检测技术；早期筛查

Abstract：

The digestive tract tumors have a high incidence, insidious onset and poor prognosis. The traditional screening methods have the disadvantages of trauma, lag, low sensitivity and specificity, which limit their application in the early screening of digestive tract tumors. Circulating tumor DNA (ctDNA) is a free DNA fragment released into the body fluid after tumor cell necrosis or apoptosis, carrying genetic information of tumor-specific changes such as mutation, rearrangement and methylation. Compared with traditional tissue biopsy, ctDNA detection has the advantages of high sensitivity and specificity, non-invasiveness, easy availability and repeatability, and has great potential in early screening of digestive tract tumors. This article reviews the research status of ctDNA in the early screening of digestive tract tumors, aiming to evaluate the potential value of ctDNA in the diagnosis of digestive tract tumors and provide a theoretical basis for exploring the early diagnosis of digestive tract tumors.

Key Words:  Circulating tumor DNA；Digestive tract tumors；Detecting technique；Early screening

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