Circulating nucleic acids as liquid biopsies for disease prediction, screening and diagnosis

IF 10.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Science China Chemistry Pub Date : 2023-10-24 DOI:10.1007/s11426-023-1727-9

Yuqing Sun, Yongling Tang, Long Yu, Yuhao Wang, Shuang Peng, Xiang Zhou

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Abstract

Liquid biopsy used molecular information in body liquid to perform early diagnosis, screening, monitoring, prognosis, and treatment of various diseases. Circulating free nucleic acids (cfNA) are important diagnostic biomarkers, providing a window to accurately and immediately observe the body’s vital activity status. With the development of gene sequencing technology and bioinformatics technology, genetic, epigenetic, and fragtomics alterations that can be detected in cfDNA, as well as the expression level of miRNA and cf-mRNA can be quantified, this can reflect its tissue origin, gene regulation, genome evolution, and disease pathogenesis. This review focuses on the clinical utility of cfNA in different body liquids (blood, urine, bile), and discusses the diagnostic efficacy and accuracy of cfNA as diagnostic biomarkers in a variety of diseases. Blood is widely used to diagnose various tissue lesions for liquid biopsies as a body fluid circulating throughout the body, reflecting the state of the entire body. Bile and urine, as local circulating body fluids, can better reflect the changing state of tissues around the biliary tract and tissues around the bladder, respectively. In addition, normalized sample preservation, cfNA extraction, and detection procedures will help the practical application of cfNA in the clinic.

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循环核酸作为液体活检用于疾病预测、筛查和诊断

液体活检利用体液中的分子信息对各种疾病进行早期诊断、筛查、监测、预后和治疗。循环游离核酸（cfNA）是重要的诊断生物标志物，为准确、即时地观察身体的生命活动状态提供了一个窗口。随着基因测序技术和生物信息学技术的发展，cfDNA中可以检测到的遗传、表观遗传学和脆性改变，以及miRNA和cfmRNA的表达水平都可以被量化，这可以反映其组织起源、基因调控、基因组进化和疾病发病机制。本文综述了cfNA在不同体液（血液、尿液、胆汁）中的临床应用，并讨论了cfNA作为诊断生物标志物在多种疾病中的诊断功效和准确性。血液被广泛用于诊断各种组织病变，用于液体活检，作为在全身循环的体液，反映整个身体的状态。胆汁和尿液作为局部循环体液，分别能更好地反映胆道周围组织和膀胱周围组织的变化状态。此外，规范化的样本保存、cfNA提取和检测程序将有助于cfNA在临床上的实际应用。

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来源期刊

Science China Chemistry CHEMISTRY, MULTIDISCIPLINARY-

CiteScore

14.40

自引率

7.30%

发文量

3787

审稿时长

2.2 months

期刊介绍： Science China Chemistry, co-sponsored by the Chinese Academy of Sciences and the National Natural Science Foundation of China and published by Science China Press, publishes high-quality original research in both basic and applied chemistry. Indexed by Science Citation Index, it is a premier academic journal in the field. Categories of articles include: Highlights. Brief summaries and scholarly comments on recent research achievements in any field of chemistry. Perspectives. Concise reports on thelatest chemistry trends of interest to scientists worldwide, including discussions of research breakthroughs and interpretations of important science and funding policies. Reviews. In-depth summaries of representative results and achievements of the past 5–10 years in selected topics based on or closely related to the research expertise of the authors, providing a thorough assessment of the significance, current status, and future research directions of the field.