利用循环肿瘤 DNA 分析进行癌症的基因谱分析。

Genetic profiling of cancer with circulating tumor DNA analysis.

机构信息

Department of Rheumatology, Huashan Hospital, Fudan University, Shanghai 200032, China.

Center for Clinical Molecular Medicine, Children's Hospital of Chongqing Medical University, Chongqing 400065, China.

出版信息

J Genet Genomics. 2018 Feb 20;45(2):79-85. doi: 10.1016/j.jgg.2017.11.006. Epub 2018 Feb 5.

DOI:10.1016/j.jgg.2017.11.006

PMID:29502957

Abstract

Circulating cell-free tumor DNA (ctDNA) in the blood is DNA released from apoptotic, circulating, and living tumor cells. ctDNA is about 140 nt in length and has a half-life of about 1.5 h. ctDNA analysis provides a noninvasive means to assess the genetic profile of cancer in real time. With the advent of molecular technologies, including digital PCR and massively parallel sequencing (MPS), ctDNA analysis has shown promise as a highly sensitive and specific alternative to conventional tissue biopsy in cancer detection, longitudinal monitoring, and precision therapy. This review provides an overview of the latest development in our understanding of the biologic characteristics, detection methodologies, and potential clinical implications of ctDNA, as well as the challenges in translating ctDNA analysis from the research arena to patient care.

摘要

循环肿瘤游离 DNA（ctDNA）是指从凋亡、循环和存活的肿瘤细胞中释放的 DNA。ctDNA 长度约为 140 个核苷酸，半衰期约为 1.5 小时。ctDNA 分析为实时评估癌症的遗传特征提供了一种非侵入性手段。随着分子技术的出现，包括数字 PCR 和大规模平行测序（MPS），ctDNA 分析已显示出作为癌症检测、纵向监测和精准治疗中替代传统组织活检的高度敏感和特异性方法的潜力。本综述概述了我们对 ctDNA 的生物学特征、检测方法以及潜在临床意义的最新认识，以及将 ctDNA 分析从研究领域转化为患者护理所面临的挑战。