超过 50% 的口腔癌 (OC) 患者被诊断为晚期疾病，且预后和生活质量较差，因此迫切需要改进早期 OC 检测。通过微创方法鉴定有效的分子标记已成为 OC 筛查的一种有前景的策略。本系统综述总结并评估了在非侵入性或微创样本中鉴定的用于 OC 检测的 DNA 甲基化标记物的性能。系统地检索了 PubMed 的 MEDLINE、Scopus、Embase 和 Cochrane 图书馆数据库，以查找评估 OC 患者非侵入性和/或微创样本（口腔冲洗液/唾液、口腔刷和血液）中 DNA 甲基化标记物的研究。两名研究人员独立提取有关研究人群特征、候选甲基化标记、测试样本、DNA 甲基化测定和性能诊断结果的数据。使用诊断准确性研究质量评估 2 工具评估方法学研究质量。三十一项研究符合本次系统评价的纳入标准。在口腔冲洗液/唾液 (n = 17)、口腔刷 (n = 9) 和血液 (n = 7) 样本中评估 DNA 甲基化标记。甲基化特异性 PCR (MSP) 和定量 MSP 是最常见的 DNA 甲基化检测。关于唾液、口腔刷和血液 DNA 甲基化标记物的诊断性能值，敏感性和特异性范围在 3.4-100% 和 21-100%、9-100% 和 26.8-100%、22-70% 和 45.45-100% 之间， 分别。不同的基因甲基化面板对于 OC 检测表现出良好的诊断性能。这篇系统综述揭示了在非侵入性（唾液或口腔冲洗液）或微创（口腔刷或血液）样本中检测 DNA 甲基化标记物作为 OC 检测的新策略的潜在价值。然而，必须在大型、多中心和前瞻性研究队列中进行进一步验证，以确认特定 DNA 甲基化标记在此情况下的临床价值。© 2024。作者。

More than 50% of oral cancer (OC) patients are diagnosed with advanced-stage disease associated with poor prognosis and quality of life, supporting an urgent need to improve early OC detection. The identification of effective molecular markers by minimally invasive approaches has emerged as a promising strategy for OC screening. This systematic review summarizes and evaluates the performance of the DNA methylation markers identified in non- or minimally invasive samples for OC detection. PubMed's MEDLINE, Scopus, Embase, and Cochrane Library databases were systematically searched for studies that evaluated DNA methylation markers in non-invasive and/or minimally invasive samples (oral rinse/saliva, oral brush, and blood) from OC patients. Two investigators independently extracted data on study population characteristics, candidate methylation markers, testing samples, DNA methylation assay, and performance diagnostic outcomes. Methodological study quality was assessed with the Quality Assessment for Studies of Diagnostic Accuracy-2 tool. Thirty-one studies met the inclusion criteria for this systematic review. DNA methylation markers were evaluated in oral rinse/saliva (n = 17), oral brush (n = 9), and blood (n = 7) samples. Methylation-specific PCR (MSP) and quantitative-MSP were the most common DNA methylation assays. Regarding diagnostic performance values for salivary, oral brush, and blood DNA methylation markers, sensitivity and specificity ranged between 3.4-100% and 21-100%, 9-100% and 26.8-100%, 22-70% and 45.45-100%, respectively. Different gene methylation panels showed good diagnostic performance for OC detection. This systematic review discloses the promising value of testing DNA methylation markers in non-invasive (saliva or oral rinse) or minimally invasive (oral brush or blood) samples as a novel strategy for OC detection. However, further validation in large, multicenter, and prospective study cohorts must be carried out to confirm the clinical value of specific DNA methylation markers in this setting.© 2024. The Author(s).