循环肿瘤DNA作为一种早期检测和诊断工具。

Circulating-tumor DNA as an early detection and diagnostic tool.

作者信息

Butler Timothy M, Spellman Paul T, Gray Joe

机构信息

Oregon Health and Science University Knight Cancer Institute, Mail Code CR145, 3181 SW Sam Jackson Park Road, Portland, OR 97239-3098, United States; Oregon Health and Science University Department of Molecular and Medical Genetics, 3181 SW Sam Jackson Park Road L103, Portland, OR 97239-3098, United States.

Oregon Health and Science University Department of Biomedical Engineering, Mail Code CL3G, 2730 SW Moody Ave., Portland, OR 97201-5042, United States; Oregon Health and Science University Knight Cancer Institute, Mail Code CR145, 3181 SW Sam Jackson Park Road, Portland, OR 97239-3098, United States; Oregon Health and Science University Center for Spatial System Biomedicine, Collaborative Life Sciences Building, 2730 SW Moody Ave, Mail Code CL3G, Portland, OR 97201-5042, United States.

出版信息

Curr Opin Genet Dev. 2017 Feb;42:14-21. doi: 10.1016/j.gde.2016.12.003. Epub 2017 Jan 23.

DOI:10.1016/j.gde.2016.12.003

PMID:28126649

Abstract

The development of new circulating-tumor DNA (ctDNA) analysis techniques has led to an explosion of studies demonstrating exciting clinical applications. Non-invasive genotyping can characterize mutations of interest without the need for an invasive biopsy. Serial ctDNA monitoring can assess response to treatment, and potentially identify mechanisms of resistance. Perhaps most excitingly, sensitive ctDNA analysis methods allow for detection of minimally residual disease, predicting recurrence months before clinical presentation. In this review, we highlight several recent, key studies in the ctDNA field and discuss future advances which would further improve patient care.

摘要

新型循环肿瘤DNA（ctDNA）分析技术的发展促使大量研究涌现，展现出令人振奋的临床应用前景。非侵入性基因分型能够在无需进行侵入性活检的情况下对感兴趣的突变进行特征描述。连续的ctDNA监测可以评估治疗反应，并有可能识别耐药机制。或许最令人兴奋的是，灵敏的ctDNA分析方法能够检测到微小残留病，在临床表现出现前数月预测复发。在本综述中，我们重点介绍了ctDNA领域近期的几项关键研究，并讨论了可能进一步改善患者治疗的未来进展。