Summary Esophageal cancer is an aggressive malignancy with a relatively poor prognosis even after multimodality therapy. Currently, patients undergo a series of investigations that can be invasive and costly or pose secondary risks to their health. In other malignancies, liquid biopsies of circulating tumor DNA (ctDNA) are used in clinical practice for diagnostic and surveillance purposes. This systematic review summarizes the latest evidence for the clinical applicability of ctDNA technology in esophageal cancer. A systematic review of the literature was performed using MEDLINE, EMBASE, the Cochrane Review and Scopus databases. Articles were evaluated for the use of ctDNA for diagnosis and monitoring of patients with esophageal cancer. Quality assessment of studies was performed using the QUADAS-2 tool. A meta-analysis was performed to assess the diagnostic accuracy of sequencing methodologies. We included 15 studies that described the use of ctDNA technology in the qualitative synthesis and eight studies involving 414 patients in the quantitative analysis. Of these, four studies assessed its utility in cancer diagnosis, while four studies evaluated its use for prognosis and monitoring. The pooled sensitivity and specificity for diagnostic studies were 71.0% (55.7–82.6%) and 98.6% (33.9–99.9%), while the pooled sensitivity and specificity for surveillance purposes were 48.9% (29.4–68.8%) and 95.5% (90.6–97.9%). ctDNA technology is an acceptable method for diagnosis and monitoring with a moderate sensitivity and high specificity that is enhanced in combination with current imaging methods. Further work should demonstrate the practical integration of ctDNA in the diagnostic and surveillance clinical pathway.

中文翻译：

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食管癌循环肿瘤 DNA 检测的临床效用和适用性：系统评价和荟萃分析

总结 食管癌是一种侵袭性恶性肿瘤，即使在多模式治疗后预后也相对较差。目前，患者接受了一系列可能具有侵入性且成本高昂或对他们的健康构成次要风险的调查。在其他恶性肿瘤中，循环肿瘤 DNA (ctDNA) 的液体活检在临床实践中用于诊断和监测目的。本系统综述总结了 ctDNA 技术在食管癌临床应用的最新证据。使用 MEDLINE、EMBASE、Cochrane Review 和 Scopus 数据库对文献进行系统回顾。文章评估了 ctDNA 在食管癌患者诊断和监测中的应用。使用 QUADAS-2 工具对研究进行质量评估。进行荟萃分析以评估测序方法的诊断准确性。我们纳入了 15 项描述在定性合成中使用 ctDNA 技术的研究和 8 项涉及 414 名患者的定量分析研究。其中，四项研究评估了其在癌症诊断中的效用，而四项研究评估了其在预后和监测中的用途。诊断研究的汇总敏感性和特异性分别为 71.0% (55.7-82.6%) 和 98.6% (33.9-99.9%)，而用于监测目的的汇总敏感性和特异性分别为 48.9% (29.4-68.8%) 和 95.5% (90.6 –97.9%）。ctDNA 技术是一种可接受的诊断和监测方法，具有中等灵敏度和高特异性，与当前的成像方法相结合得到了增强。