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循环肿瘤 DNA 作为癌症治疗中反应和随访标志物的临床效用。

Clinical utility of circulating tumor DNA as a response and follow-up marker in cancer therapy.

机构信息

Department of Medical Oncology, University of Groningen, University Medical Centre Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.

Department of Pathology, University of Groningen, University Medical Centre Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.

出版信息

Cancer Metastasis Rev. 2020 Sep;39(3):999-1013. doi: 10.1007/s10555-020-09876-9.

DOI:10.1007/s10555-020-09876-9
PMID:32367253
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7497299/
Abstract

Response evaluation for cancer treatment consists primarily of clinical and radiological assessments. In addition, a limited number of serum biomarkers that assess treatment response are available for a small subset of malignancies. Through recent technological innovations, new methods for measuring tumor burden and treatment response are becoming available. By utilization of highly sensitive techniques, tumor-specific mutations in circulating DNA can be detected and circulating tumor DNA (ctDNA) can be quantified. These so-called liquid biopsies provide both molecular information about the genomic composition of the tumor and opportunities to evaluate tumor response during therapy. Quantification of tumor-specific mutations in plasma correlates well with tumor burden. Moreover, with liquid biopsies, it is also possible to detect mutations causing secondary resistance during treatment. This review focuses on the clinical utility of ctDNA as a response and follow-up marker in patients with non-small cell lung cancer, melanoma, colorectal cancer, and breast cancer. Relevant studies were retrieved from a literature search using PubMed database. An overview of the available literature is provided and the relevance of ctDNA as a response marker in anti-cancer therapy for clinical practice is discussed. We conclude that the use of plasma-derived ctDNA is a promising tool for treatment decision-making based on predictive testing, detection of resistance mechanisms, and monitoring tumor response. Necessary steps for translation to daily practice and future perspectives are discussed.

摘要

癌症治疗的疗效评估主要包括临床和影像学评估。此外,对于一小部分恶性肿瘤,也有一些有限的血清生物标志物可用于评估治疗反应。通过最近的技术创新,用于测量肿瘤负担和治疗反应的新方法正在不断涌现。通过利用高度敏感的技术,可以检测到循环 DNA 中的肿瘤特异性突变,并定量检测循环肿瘤 DNA(ctDNA)。这些所谓的液体活检不仅提供了肿瘤基因组组成的分子信息,还有机会在治疗过程中评估肿瘤反应。血浆中肿瘤特异性突变的定量与肿瘤负担密切相关。此外,通过液体活检,还可以检测到治疗过程中引起继发耐药的突变。这篇综述重点介绍了 ctDNA 作为非小细胞肺癌、黑色素瘤、结直肠癌和乳腺癌患者的疗效和随访标志物的临床应用。使用 PubMed 数据库进行文献检索,检索到相关研究。提供了对现有文献的概述,并讨论了 ctDNA 作为抗癌治疗中反应标志物的相关性,以指导临床实践。我们得出结论,使用源自血浆的 ctDNA 是一种很有前途的工具,可用于基于预测性检测、耐药机制检测和监测肿瘤反应的治疗决策。讨论了将其转化为日常实践和未来展望的必要步骤。

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