Value of circulating free DNA methylation in the diagnosis of esophageal cancer: A systematic review and meta-analysis

循环游离DNA甲基化在食管癌诊断中的价值:系统评价和荟萃分析

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Abstract

Liquid biopsy using circulating biomarkers has shown growing potential in cancer detection. The aim of the present study was to assess the application value of detecting the methylation level of circulating free (cf)DNA in the identification and diagnosis of esophageal cancer (EC), to lay a scientific foundation for its clinical application, and to provide statistically significant references for the detection process. A total of two researchers independently performed a comprehensive search of the PubMed, Web of Science, Cochrane Library, Embase and Scopus databases to identify all relevant studies on cfDNA in EC diagnosis as of July 25, 2024. A meta-analysis was performed using MetaDiSc 1.4, Stata 16.0 and RevMan 5.4 software. Pooled sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic rate (DOR) and area under the curve (AUC) values were determined. According to inclusion and exclusion criteria, a total of 14 studies with a total of 3,936 patients were included in the analysis. The pooled sensitivity and specificity, and PLR, NLR, DOR and AUC of cfDNA methylation in the diagnosis of EC were 0.83 [95% confidence interval (CI), 0.75-0.89], 0.98 (95% CI, 0.95-0.99), 34.57 (95% CI, 18.04-63.44), 0.18 (95% CI, 0.12-0.25), 197.25 (95% CI, 104.53-372.20) and 0.98 (95% CI, 0.96-0.99), respectively. In conclusion, cfDNA methylation demonstrates high diagnostic accuracy for early-stage EC and may serve as a promising non-invasive screening tool.

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