Latest development of liquid biopsy
Latest development of liquid biopsy
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DOI：
10.21037/jtd.2018.04.68
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发表时间：
2018-06-01
影响因子：
2.5
通讯作者：
To, Ka-Fai
中科院分区：
文献类型：
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作者：
Cheung, Alvin Ho-Kwan;Chow, Chit;To, Ka-Fai
液体活检提供了在各种体液中检测和分析癌症的机会。在外周血中，除了循环无细胞DNA，循环癌细胞和其他肿瘤相关化合物如细胞外囊泡也是新兴的检测候选物。与传统的组织或细胞学样本相比，液体活检是非侵入性的，安全的，易于重复。鉴于肿瘤的异质性，还表明循环无细胞DNA可能比活检或细胞学样本更能代表整个肿瘤细胞群。除了辅助初步诊断外，液体活检还可以用于疾病监测，检测耐药突变，肿瘤复发，并可能用于未来的筛查。分子技术的进步极大地促进了该测试的准确性，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的潜力，但仍存在局限性，目前并非所有临床相关的癌症生物标志物都可以在液体活检中检测到。许多来自液体活检的测试的临床效用需要进一步的研究和临床验证。本文综述了液体活检的概念、临床应用，并讨论了该领域的多方面进展。
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.