Lung cancer is the leading cause of cancer-related deaths, and early detection is crucial for improving patient outcomes. Current screening methods using computed tomography have limitations, prompting interest in non-invasive diagnostic tools such as methylated circulating tumor DNA (ctDNA). The PRISMA guidelines for systematic reviews were followed. The electronic databases MEDLINE, Embase, Web of Science, and Cochrane Library were systematically searched for articles. The search string contained three main topics: Lung cancer, blood, and methylated ctDNA. The extraction of data and quality assessment were carried out independently by the reviewers. In total, 33 studies were eligible for inclusion in this systematic review and meta-analysis. The most frequently studied genes were SHOX2, RASSF1A, and APC. The sensitivity and specificity of methylated ctDNA varied across studies, with a summary sensitivity estimate of 46.9% and a summary specificity estimate of 92.9%. The area under the hierarchical summary receiver operating characteristics curve was 0.81. The included studies were generally of acceptable quality, although they lacked information in certain areas. The risk of publication bias was not significant. Based on the findings, methylated ctDNA in blood shows potential as a rule-in tool for lung cancer diagnosis but requires further research, possibly in combination with other biomarkers.
肺癌是癌症相关死亡的主要原因，早期检测对于改善患者预后至关重要。目前使用计算机断层扫描的筛查方法存在局限性，这促使人们对非侵入性诊断工具如甲基化循环肿瘤DNA（ctDNA）产生兴趣。本研究遵循系统评价的PRISMA指南，系统检索了电子数据库MEDLINE、Embase、Web of Science和Cochrane Library中的文章。检索字符串包含三个主要主题：肺癌、血液和甲基化ctDNA。数据提取和质量评估由评审者独立进行。总计有33项研究符合纳入本系统评价与荟萃分析的条件。最常研究的基因是SHOX2、RASSF1A和APC。甲基化ctDNA的敏感性和特异性在各研究中存在差异，汇总敏感性估计为46.9%，汇总特异性估计为92.9%。分层汇总受试者工作特征曲线下面积为0.81。纳入的研究总体质量可接受，尽管在某些方面缺乏信息。发表偏倚的风险不显著。基于这些发现，血液中的甲基化ctDNA显示出作为肺癌确诊工具的潜力，但需要进一步研究，可能与其他生物标志物结合使用。
肿瘤(癌症)患者之家