Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, 56126 Pisa, Italy.
Interdepartmental Research Center of Biology and Pathology of Aging, University of Pisa, 56126 Pisa, Italy.
Int J Mol Sci. 2023 Jul 20;24(14):11715. doi: 10.3390/ijms241411715.
The central objective of the metamorphosis of discovery science into biomedical applications is to serve the purpose of patients and curtail the global disease burden. The journey from the discovery of DNA methylation (DNAm) as a biological process to its emergence as a diagnostic tool is one of the finest examples of such metamorphosis and has taken nearly a century. Particularly in the last decade, the application of DNA methylation studies in the clinic has been standardized more than ever before, with great potential to diagnose a multitude of diseases that are associated with a burgeoning number of genes with this epigenetic alteration. Fetal DNAm detection is becoming useful for noninvasive prenatal testing, whereas, in very preterm infants, DNAm is also shown to be a potential biological indicator of prenatal risk factors. In the context of cancer, liquid biopsy-based DNA-methylation profiling is offering valuable epigenetic biomarkers for noninvasive early-stage diagnosis. In this review, we focus on the applications of DNA methylation in prenatal diagnosis for delivering timely therapy before or after birth and in detecting early-stage cancers for better clinical outcomes. Furthermore, we also provide an up-to-date commercial landscape of DNAm biomarkers for cancer detection and screening of cancers of unknown origin.
将发现科学转化为生物医学应用的中心目标是为患者服务，减少全球疾病负担。从发现 DNA 甲基化（DNAm）作为一种生物过程到将其发展为一种诊断工具的过程，就是这种转变的一个最好例子，这一过程花费了近一个世纪的时间。特别是在过去十年中，DNA 甲基化研究在临床上的应用比以往任何时候都更加标准化，具有诊断与大量具有这种表观遗传改变的基因相关的多种疾病的巨大潜力。胎儿 DNAm 检测正成为非侵入性产前检测的有用方法，而在非常早产儿中，DNAm 也被证明是产前风险因素的潜在生物学指标。在癌症方面，基于液体活检的 DNA 甲基化分析为非侵入性早期诊断提供了有价值的表观遗传生物标志物。在这篇综述中，我们重点介绍了 DNA 甲基化在产前诊断中的应用，以便在出生前或出生后及时进行治疗，并在早期癌症检测中提供更好的临床结果。此外，我们还提供了 DNAm 生物标志物在癌症检测和不明来源癌症筛查方面的最新商业现状。
