Lung cancer is the leading cause of cancer-related mortality worldwide. Early diagnosis is pivotal for the prognosis. There is a notable overlap between lung cancer and chronic bronchitis, and the potential use of methylated tumor DNA in sputum as a biomarker for lung cancer detection is appealing. This systematic review and meta-analysis followed the PRISMA 2020 statement. A comprehensive search was conducted in Embase, Medline, Web of Science, and the Cochrane Library, using these search strings: Lung cancer, sputum, and methylated tumor DNA. A total of 15 studies met the eligibility criteria. Studies predominantly utilized a case–control design, with sensitivity ranging from 10 to 93% and specificity from 8 to 100%. A meta-analysis of all genes across studies resulted in a summary sensitivity of 54.3% (95% CI 49.4–59.2%) and specificity of 79.7% (95% CI 75.0–83.7%). Notably, two less explored genes (TAC1, SOX17) demonstrated sensitivity levels surpassing 85%. The study’s findings highlight substantial variations in the sensitivity and specificity of methylated tumor DNA in sputum for lung cancer detection. Challenges in reproducibility could stem from differences in tumor site, sample acquisition, extraction methods, and methylation measurement techniques. This meta-analysis provides a foundation for prioritizing high-performing genes, calling for a standardization and refinement of methodologies before potential application in clinical trials.
肺癌是全球癌症相关死亡的主要原因，早期诊断对预后至关重要。肺癌与慢性支气管炎在临床表现上存在显著重叠，因此利用痰液中甲基化肿瘤DNA作为肺癌检测的生物标志物具有潜在吸引力。本系统综述与荟萃分析遵循PRISMA 2020声明，通过检索Embase、Medline、Web of Science及Cochrane图书馆数据库，采用"肺癌、痰液、甲基化肿瘤DNA"等检索词进行全面检索。最终共纳入15项符合标准的研究。研究多采用病例对照设计，其敏感度范围在10%至93%之间，特异度范围在8%至100%之间。对所有研究涵盖的基因进行荟萃分析显示，汇总敏感度为54.3%（95% CI 49.4–59.2%），汇总特异度为79.7%（95% CI 75.0–83.7%）。值得注意的是，两个研究较少的基因（TAC1、SOX17）表现出超过85%的敏感度。本研究结果凸显了痰液甲基化肿瘤DNA检测肺癌的敏感度与特异度存在显著差异。可重复性面临的挑战可能源于肿瘤部位、样本采集、DNA提取方法及甲基化检测技术的差异。本荟萃分析为优先选择高效能基因提供了依据，并呼吁在潜在临床试验应用前，需对方法学进行标准化与优化。
肿瘤(癌症)患者之家