无细胞DNA甲基化及其作为液体活检生物标志物的潜力：系统综述

IF 2.9 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinica Chimica Acta Pub Date : 2025-05-28 DOI:10.1016/j.cca.2025.120403

Min Pan , Xinling Cheng , Huike Chen , Yuxian Feng , Zeyu Ma , Qinyu Ge , Jing Tu

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引用次数: 0

摘要

DNA甲基化是调控基因表达的重要表观遗传修饰。游离DNA （cfDNA）甲基化的变化通常先于疾病的临床表现。体液样品中的微量、碎片化特征和高背景噪声是cfDNA甲基化检测在临床应用前需要解决的挑战。随着基因组分析和甲基化检测技术的进步，cfDNA甲基化分析已成为早期诊断、预后预测和追踪组织起源的有前途的生物标志物。cfDNA的组织特异性甲基化模式进一步促进了其起源组织的确定，使cfDNA甲基化在液体活检中变得非常宝贵。本文综述了cfDNA甲基化分析的先进技术，总结了cfDNA甲基化分析在临床应用中的最新进展，并强调了cfDNA甲基化与多组学分析在未来研究中的应用价值。

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Cell-free DNA methylation and its potential as a biomarker in liquid biopsy: A systematic review

DNA methylation is a critical epigenetic modification that regulates gene expression. Changes in cell-free DNA (cfDNA) methylation typically precede the clinical manifestations of diseases. Trace amounts in body fluid samples, fragmented feature, and high background noise are the challenges to be addressed before implementation of cfDNA methylation assay in clinical application. With advances in genomic analysis and methylation detection technologies, analysis of cfDNA methylation has emerged as a promising biomarker for early diagnosis, prognostic prediction, and tracing tissue origin. The tissue-specific methylation patterns of cfDNA further facilitate the determination of its tissue of origin, making cfDNA methylation invaluable in liquid biopsies. This review highlights the advanced technologies to analyze methylated cfDNA, summarizes the recent progress of cfDNA methylation assays in clinical applications, and underscores the value of the integration of cfDNA methylation with multi-omics analysis in future research.

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来源期刊

Clinica Chimica Acta 医学-医学实验技术

CiteScore

10.10

自引率

2.00%

发文量

1268

审稿时长

23 days

期刊介绍： The Official Journal of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Clinica Chimica Acta is a high-quality journal which publishes original Research Communications in the field of clinical chemistry and laboratory medicine, defined as the diagnostic application of chemistry, biochemistry, immunochemistry, biochemical aspects of hematology, toxicology, and molecular biology to the study of human disease in body fluids and cells. The objective of the journal is to publish novel information leading to a better understanding of biological mechanisms of human diseases, their prevention, diagnosis, and patient management. Reports of an applied clinical character are also welcome. Papers concerned with normal metabolic processes or with constituents of normal cells or body fluids, such as reports of experimental or clinical studies in animals, are only considered when they are clearly and directly relevant to human disease. Evaluation of commercial products have a low priority for publication, unless they are novel or represent a technological breakthrough. Studies dealing with effects of drugs and natural products and studies dealing with the redox status in various diseases are not within the journal''s scope. Development and evaluation of novel analytical methodologies where applicable to diagnostic clinical chemistry and laboratory medicine, including point-of-care testing, and topics on laboratory management and informatics will also be considered. Studies focused on emerging diagnostic technologies and (big) data analysis procedures including digitalization, mobile Health, and artificial Intelligence applied to Laboratory Medicine are also of interest.