Diagnostic accuracy of circulating-free DNA for the determination of hepatocellular carcinoma: a systematic review and meta-analysis

Circulating cell-free DNA (cfDNA) is a good diagnostic tool for hepatocellular carcinoma as it can comprehensively reflect the heterogeneity of tumors and aid in their early detection. This study aimed to assess the diagnostic value of circulating cfDNA for hepatocellular carcinoma.
PubMed, EMBASE, Web of Science, Cochrane Library, and Scopus databases were searched to identify all relevant literature from their dates of establishment to 6 April 2022, and a total of 2,467 articles were found. Methodological quality assessment was performed using QUADAS-2.
Fifteen articles with 3,686 patients were included in this study after screening. The pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, diagnostic odds ratio, and area under the curve were 0.83 (95% confidence interval [CI]: 0.78, 0.87), 0.90 (95% CI: 0.86, 0.93), 8.4 (95% CI: 5.9, 12.0), 0.19 (95% CI: 0.15, 0.24), 44 (95% CI: 30, 66), and 0.93 (95% CI: 0.90, 0.95), respectively. Deek’s funnel plot test did not show significant publication bias (P = 0.28).
Results of this meta-analysis suggest that circulating cfDNA has moderate sensitivity and excellent specificity for the detection of hepatocellular carcinoma as a noninvasive test (0.83 and 0.90, respectively).

循环游离脱氧核糖核酸（circulating cell-free DNA, cfDNA）可全面反映肿瘤异质性并辅助肿瘤的早期检测，是肝细胞癌（hepatocellular carcinoma, HCC）的优质诊断工具。本研究旨在评估循环cfDNA对肝细胞癌的诊断价值。本研究检索了PubMed、EMBASE、Web of Science、Cochrane图书馆及Scopus数据库自建库至2022年4月6日的所有相关文献，共检索到2467篇文献。采用QUADAS-2工具进行方法学质量评价。经筛选后，本研究共纳入15篇文献，涉及3686例患者。合并灵敏度、特异度、阳性似然比、阴性似然比、诊断比值比及曲线下面积分别为0.83（95%置信区间[CI]：0.78, 0.87）、0.90（95% CI：0.86, 0.93）、8.4（95% CI：5.9, 12.0）、0.19（95% CI：0.15, 0.24）、44（95% CI：30, 66）及0.93（95% CI：0.90, 0.95）。Deek漏斗图检验未发现显著发表偏倚（P=0.28）。本荟萃分析结果表明，作为一种无创检测手段，循环cfDNA用于肝细胞癌检测时具有中等程度的灵敏度及优异的特异度（分别为0.83和0.90）。