Borg Morten, Wen Sara Witting Christensen, Andersen Rikke Fredslund, Timm Signe, Hansen Torben Frøstrup, Hilberg Ole
Department of Medicine, Vejle Hospital, University Hospital of Southern Denmark, 7100 Vejle, Denmark.
Department of Oncology, Vejle Hospital, University Hospital of Southern Denmark, 7100 Vejle, Denmark.
Cancers (Basel). 2023 Aug 3;15(15):3959. doi: 10.3390/cancers15153959.
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，这引发了人们对甲基化循环肿瘤DNA（ctDNA）等非侵入性诊断工具的兴趣。本研究遵循系统评价的PRISMA指南。对电子数据库MEDLINE、Embase、Web of Science和Cochrane图书馆进行了系统检索以查找文章。检索词包含三个主要主题：肺癌、血液和甲基化ctDNA。数据提取和质量评估由评审人员独立进行。总共有33项研究符合纳入本系统评价和荟萃分析的条件。研究最频繁的基因是SHOX2、RASSF1A和APC。甲基化ctDNA的敏感性和特异性在不同研究中有所不同，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。纳入的研究质量总体上可以接受，尽管在某些方面缺乏信息。发表偏倚风险不显著。基于这些发现，血液中的甲基化ctDNA显示出作为肺癌诊断的确诊工具的潜力，但需要进一步研究，可能与其他生物标志物联合使用。
