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液体活检背景下的游离DNA:循环肿瘤DNA(ctDNA)和循环肿瘤细胞(CTC)标志物在癌症管理中的作用及差异

Cell-Free DNA in the Liquid Biopsy Context: Role and Differences Between ctDNA and CTC Marker in Cancer Management.

作者信息

Fici Pietro

机构信息

Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy.

出版信息

Methods Mol Biol. 2019;1909:47-73. doi: 10.1007/978-1-4939-8973-7_4.

Abstract

Liquid biopsy is a new diagnostic concept to investigate the molecular features of solid tumors by blood, saliva, urine, and any other body fluids which show a source of potential biomarkers. In cancer patients, it is a simple and less invasive mean, representing a sustainable alternative to interrogate all tumor cells longitudinally, quantifying and characterizing the biological materials (DNAs, RNAs, proteins) which originate from cancer tissues. Circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) analysis from a simple blood draw received enormous attention for the related clinical research results. A rich scientific literature demonstrates that liquid biopsy is a valid instrument to assess the tumor biomarkers in real time and profile the cancer genotype in diagnostic and prognostic field, as well to quantify minimal residual disease, during patient follow-up. This could be a breakthrough for a companion diagnostic and personalized medicine. Liquid biopsy needs further implementation in the methodological aspects as well as cost-based assessment. The number of new molecular diagnostic assays increases day by day, but the standards for their adoption and clinical validation are still to be achieved.

摘要

液体活检是一种新的诊断概念,通过血液、唾液、尿液以及任何其他显示出潜在生物标志物来源的体液来研究实体瘤的分子特征。在癌症患者中,它是一种简单且侵入性较小的手段,是纵向检测所有肿瘤细胞、量化和表征源自癌组织的生物材料(DNA、RNA、蛋白质)的可持续替代方法。通过简单的抽血对循环肿瘤细胞(CTC)和循环肿瘤DNA(ctDNA)进行分析,因其相关临床研究结果而备受关注。丰富的科学文献表明,液体活检是一种在诊断和预后领域实时评估肿瘤生物标志物、描绘癌症基因型以及在患者随访期间量化微小残留病的有效工具。这对于伴随诊断和个性化医疗可能是一个突破。液体活检在方法学方面以及基于成本的评估方面需要进一步完善。新的分子诊断检测方法的数量日益增加,但其采用和临床验证的标准仍有待实现。

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