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循环肿瘤DNA在癌症监测中的临床应用及技术进展综述

Review of the clinical applications and technological advances of circulating tumor DNA in cancer monitoring.

作者信息

Chang Yi, Tolani Bhairavi, Nie Xiuhong, Zhi Xiuyi, Hu Mu, He Biao

机构信息

Department of Respiratory Medicine, Xuanwu Hospital, Capital Medical University, Beijing, China.

Thoracic Oncology Program, Department of Surgery, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA.

出版信息

Ther Clin Risk Manag. 2017 Oct 11;13:1363-1374. doi: 10.2147/TCRM.S141991. eCollection 2017.

Abstract

Circulating cell-free DNA (cfDNA) released by tumor cells, termed ctDNA, closely reflects the heterogeneity of primary cancers and their metastases. As a noninvasive, real-time monitoring biomarker, ctDNA is a promising tool for detecting driver gene mutations, assessing tumor burden and acquired resistance, and early diagnosis. However, isolation and enrichment of cfDNA is a big challenge due to the high degree of DNA fragmentation and its relatively low abundance in the bloodstream. This review aims to provide insights into the recent technological advances in acquisition of optimal quality cfDNA, the use of preservatives, isolation methods, processing timelines, and detection techniques. It also describes clinical applications of ctDNA in cancer patient management.

摘要

肿瘤细胞释放的循环游离DNA(cfDNA),即循环肿瘤DNA(ctDNA),能密切反映原发性癌症及其转移灶的异质性。作为一种非侵入性的实时监测生物标志物,ctDNA是检测驱动基因突变、评估肿瘤负荷和获得性耐药以及早期诊断的有前景的工具。然而,由于DNA高度碎片化且在血液中的丰度相对较低,cfDNA的分离和富集是一项巨大挑战。本综述旨在深入探讨获取高质量cfDNA的最新技术进展、防腐剂的使用、分离方法、处理流程以及检测技术。它还描述了ctDNA在癌症患者管理中的临床应用。

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