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液体活检的最新进展。

Latest development of liquid biopsy.

作者信息

Cheung Alvin Ho-Kwan, Chow Chit, To Ka-Fai

机构信息

Department of Anatomical and Cellular Pathology, State Key Laboratory of Oncology in South China, Sir Y.K. Pao Cancer Center, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.

出版信息

J Thorac Dis. 2018 Jun;10(Suppl 14):S1645-S1651. doi: 10.21037/jtd.2018.04.68.

Abstract

Liquid biopsy provides the opportunity of detecting and analyzing cancer in various body fluids. In peripheral blood, apart from circulating cell free DNA, circulating cancer cells and other tumor-associated compounds such as extracellular vesicles are also emerging candidates for detection. Compared to conventional tissue or cytology samples, liquid biopsy is non-invasive, safe, and easy to repeat. In view of tumor heterogeneity, it is also suggested that circulating cell free DNA may be more representative of the whole tumor cells population than a biopsy or cytology sample. In addition to assisting in the initial diagnosis, liquid biopsy can also be tailored for disease monitoring, detecting resistance mutation, tumor recurrence, and perhaps for screening in the future. The accuracy of this test is greatly facilitated by the advances of molecular techniques, from PCR-based methods, DNA sequencing, Digital PCR, to the more state-of-the-art next generation sequencing technologies. Despite the tremendous potential of liquid biopsy, there are limitations and not all clinical relevant cancer biomarkers can be detected in liquid biopsy at the present moment. The clinical utility of many of the tests derived from liquid biopsy required further investigations and clinical validation. This review provides an overview of the concept of liquid biopsy, its clinical applications, and discuss the multifaceted advances in this field.

摘要

液体活检为在各种体液中检测和分析癌症提供了机会。在外周血中,除了循环游离DNA外,循环癌细胞以及其他肿瘤相关化合物(如细胞外囊泡)也逐渐成为检测的候选对象。与传统的组织或细胞学样本相比,液体活检具有非侵入性、安全性高且易于重复的特点。鉴于肿瘤异质性,也有人提出循环游离DNA可能比活检或细胞学样本更能代表整个肿瘤细胞群体。除了辅助初始诊断外,液体活检还可用于疾病监测、检测耐药突变、肿瘤复发,甚至可能用于未来的筛查。分子技术的进步极大地提高了这项检测的准确性,从基于PCR的方法、DNA测序、数字PCR到更先进的下一代测序技术。尽管液体活检具有巨大潜力,但也存在局限性,目前并非所有临床相关的癌症生物标志物都能在液体活检中检测到。许多源自液体活检的检测方法的临床实用性还需要进一步研究和临床验证。本文综述了液体活检的概念、其临床应用,并讨论了该领域的多方面进展。

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