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Circulating tumor DNA and liquid biopsy in oncology. ​

文献信息 ​

DOI10.1038/s43018-020-0043-5
PMID35122035
期刊Nature cancer
影响因子28.5
JCR 分区Q1
发表年份2020
被引次数271
关键词循环肿瘤DNA, 液体活检, 癌症诊断, 临床试验
文献类型Journal Article, Review
ISSN2662-1347
页码276-290
期号1(3)
作者David W Cescon, Scott V Bratman, Steven M Chan, Lillian L Siu

一句话小结 ​

本综述探讨了循环肿瘤DNA（ctDNA）液体活检在癌症检测、表征和监测中的应用现状及其临床实用性，强调了其在固体肿瘤和血液恶性肿瘤中的潜力和临床研究机会。研究表明，ctDNA技术在癌症管理中的重要性日益凸显，为未来的诊断和个性化治疗提供了新的方向。

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循环肿瘤DNA · 液体活检 · 癌症诊断 · 临床试验

摘要 ​

循环肿瘤DNA (ctDNA) 的分析技术在检测、表征和监测癌症方面迅速发展。越来越多的临床证据显示了该技术作为诊断测试的能力。通过评估临床实用性的干预性临床试验，ctDNA液体活检在固体肿瘤和血液恶性肿瘤的诊断、表征和管理中的全部潜力将被揭示。在本综述中，我们讨论了ctDNA液体活检在癌症全过程中的应用现状，并强调了临床研究的机会。

英文摘要 ​

Techniques for analyzing circulating tumor DNA (ctDNA) to detect, characterize and monitor cancer have matured rapidly. An increasing body of clinical evidence is demonstrating the capabilities of this technology as a diagnostic test. The full potential of ctDNA liquid biopsy in the diagnosis, characterization and management of solid and hematological malignancies will be uncovered through interventional clinical trials evaluating clinical utility. In this Review, we discuss the current landscape of ctDNA liquid-biopsy applications across the cancer continuum and highlight opportunities for clinical investigation.

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主要研究问题 ​

  1. ctDNA在不同类型癌症的液体活检中有哪些具体应用？
  2. 目前有哪些临床试验正在评估ctDNA液体活检的临床效用？
  3. 在ctDNA液体活检的技术发展中，存在哪些主要挑战和局限性？
  4. 如何利用ctDNA监测癌症治疗的反应和复发？
  5. ctDNA与传统组织活检相比，在癌症诊断和管理中的优势是什么？

核心洞察 ​

研究背景和目的 ​

随着癌症研究的进展，循环肿瘤DNA（ctDNA）作为一种新兴的液体活检技术，逐渐成为检测、表征和监测癌症的重要工具。传统的组织活检在某些情况下存在创伤性、时效性不足等问题，因此本研究旨在探讨ctDNA液体活检在诊断、表征和管理实体肿瘤及血液系统恶性肿瘤中的应用潜力，并通过临床试验评估其临床实用性。

主要方法和发现 ​

该文献综述了ctDNA液体活检在癌症各个阶段的应用，包括早期筛查、疾病监测和疗效评估。研究者分析了现有的临床证据，指出ctDNA可以用于检测肿瘤突变、评估肿瘤负荷和监测疾病进展或复发。通过对现有文献的综合，论文强调了ctDNA在提高诊断灵敏度和特异性方面的潜力，同时也指出了在不同类型癌症中的适用性差异。

核心结论 ​

ctDNA液体活检技术在癌症的诊断、表征和治疗监测中展现出越来越重要的角色。尽管目前已有初步的临床证据支持其应用，但要充分发掘其潜力，仍需通过系统的干预性临床试验来验证其临床效用。此外，技术的成熟及其在不同癌症类型中的整合应用，将为个性化治疗方案的制定提供重要依据。

研究意义和影响 ​

本研究的意义在于推动ctDNA液体活检技术的发展，强调了其在临床实践中的重要性。随着对ctDNA技术的深入研究，不仅可以提高癌症的早期诊断率，还可以在治疗过程中实现动态监测，从而优化治疗方案，提升患者的生存率和生活质量。这项研究为今后的临床研究提供了方向，并可能改变传统癌症管理方式，为精准医学的实施奠定基础。

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引用本文的文献 ​

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