Ntzifa Aliki, Lianidou Evi
Analysis of Circulating Tumor Cells, Lab of Analytical Chemistry, Department of Chemistry, University of Athens, Athens, Greece.
Analysis of Circulating Tumor Cells, Lab of Analytical Chemistry, Department of Chemistry, University of Athens, Athens, Greece.
Int Rev Cell Mol Biol. 2025;392:177-198. doi: 10.1016/bs.ircmb.2024.03.002. Epub 2024 Jun 1.
DNA methylation is one of the best-known epigenetic markers and plays a critical role in the control of gene activity and the architecture of the nucleus of the cell. Epigenetic alterations and especially DNA methylation have a high potential to provide valuable and innovative cancer biomarkers. Liquid biopsy is a unique minimally invasive tool for the management of cancer patients based on the extraction of information through detailed molecular analysis of circulating genetic material in peripheral blood and allows us to characterize the evolution of a solid tumor in real time. DNA methylation in combination with liquid biopsy is very powerful when it comes to providing circulating epigenetic biomarkers of clinical importance. Numerous DNA methylation markers are now being tested in liquid biopsies as potential biomarkers in various types of cancer. DNA methylation is mostly being studied in ctDNA but there are also a small number of studies up to now performed in gDNA isolated from CTCs. A highly important dimension of the combination of liquid biopsy/DNA methylation analysis is its high potential for early cancer detection since alterations in DNA methylation in plasma can be detected very early during cancer pathogenesis. Methylated DNA, modified nucleosomes and noncoding RNAs can be used as blood circulating epigenetic biomarkers for real-time and minimally-invasive cancer monitoring. DNA methylation is very promising and powerful in providing novel biomarkers for improving cancer diagnostics, while another important dimension in this field is the use of DNA methylation inhibitors in cancer treatment. In this chapter we present the current findings on epigenetic alterations detected in CTCs in various types of cancer, and further discuss their potential as novel liquid biopsy-based DNA methylation biomarkers.
DNA甲基化是最广为人知的表观遗传标记之一，在基因活性控制和细胞核结构中起着关键作用。表观遗传改变，尤其是DNA甲基化，极有可能提供有价值的创新性癌症生物标志物。液体活检是一种独特的微创工具，用于癌症患者的管理，它基于对外周血中循环遗传物质的详细分子分析来提取信息，使我们能够实时表征实体瘤的演变。当涉及提供具有临床重要性的循环表观遗传生物标志物时，DNA甲基化与液体活检相结合非常有效。目前，许多DNA甲基化标记物正在液体活检中作为各种癌症的潜在生物标志物进行测试。DNA甲基化主要在ctDNA中进行研究，但到目前为止，也有少数研究是在从循环肿瘤细胞（CTC）中分离出的基因组DNA（gDNA）中进行的。液体活检/DNA甲基化分析相结合的一个非常重要的方面是其在早期癌症检测方面的巨大潜力，因为血浆中DNA甲基化的改变可以在癌症发病过程的早期被检测到。甲基化DNA、修饰的核小体和非编码RNA可以用作血液循环表观遗传生物标志物，用于实时和微创的癌症监测。DNA甲基化在提供新型生物标志物以改善癌症诊断方面非常有前景且强大，而该领域的另一个重要方面是在癌症治疗中使用DNA甲基化抑制剂。在本章中，我们介绍了在各种癌症的循环肿瘤细胞中检测到的表观遗传改变的当前研究结果，并进一步讨论了它们作为基于液体活检的新型DNA甲基化生物标志物的潜力。
