Wang Binliang, Wang Meng, Lin Ya, Zhao Jinlan, Gu Hongcang, Li Xiangjuan
Department of Respiratory Medicine, Huangyan Hospital Affiliated to Wenzhou Medical University, Taizhou, P.R. China.
Institute of Health Education, Hangzhou Center for Disease Control and Prevention, Hangzhou, P.R. China.
Clin Chem Lab Med. 2024 Mar 7;62(11):2111-2127. doi: 10.1515/cclm-2023-1327. Print 2024 Oct 28.
Cancer continues to pose significant challenges to the medical community. Early detection, accurate molecular profiling, and adequate assessment of treatment response are critical factors in improving the quality of life and survival of cancer patients. Accumulating evidence shows that circulating tumor DNA (ctDNA) shed by tumors into the peripheral blood preserves the genetic and epigenetic information of primary tumors. Notably, DNA methylation, an essential and stable epigenetic modification, exhibits both cancer- and tissue-specific patterns. As a result, ctDNA methylation has emerged as a promising molecular marker for noninvasive testing in cancer clinics. In this review, we summarize the existing techniques for ctDNA methylation detection, describe the current research status of ctDNA methylation, and present the potential applications of ctDNA-based assays in the clinic. The insights presented in this article could serve as a roadmap for future research and clinical applications of ctDNA methylation.
癌症继续给医学界带来重大挑战。早期检测、准确的分子谱分析以及对治疗反应的充分评估是提高癌症患者生活质量和生存率的关键因素。越来越多的证据表明，肿瘤释放到外周血中的循环肿瘤DNA（ctDNA）保留了原发性肿瘤的遗传和表观遗传信息。值得注意的是，DNA甲基化作为一种重要且稳定的表观遗传修饰，呈现出癌症和组织特异性模式。因此，ctDNA甲基化已成为癌症临床无创检测中有前景的分子标志物。在本综述中，我们总结了现有的ctDNA甲基化检测技术，描述了ctDNA甲基化的当前研究现状，并介绍了基于ctDNA的检测方法在临床中的潜在应用。本文提出的见解可为ctDNA甲基化的未来研究和临床应用提供路线图。
