期刊
SEMINARS IN ONCOLOGY
卷 44, 期 5, 页码 330-346出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1053/j.seminoncol.2018.01.009
关键词
circulating tumor DNA; cell-free DNA; liquid biopsy; minimal residual disease
类别
资金
- Princess Margaret Cancer Foundation
- Joe and Cara Finley Centre for Head & Neck Translational Research
- Cancer Research Society [CRS 21282]
- Canadian Cancer Society [CCSRI 704762, CCSRI 704716]
- University of Toronto McLaughlin Centre [MC-2015-02]
- Canadian Institutes of Health Research [CIHR FDN 148430]
- Gattuso-Slaight Personalized Cancer Medicine Fund at The Princess Margaret Cancer Centre
- Conquer Cancer Foundation of ASCO Career Development Award
- Helen M. Cooke professorship from Princess Margaret Cancer Foundation
- CIHR [201512MSH-360794-228629]
Circulating tumor DNA (ctDNA) consists of cell-free DNA (cfDNA) fragments that are released from tumor cells into the bloodstream. ctDNA harbors cancer-specific genetic and epigenetic alterations that allow its detection and quantification using a variety of emerging techniques. The promise of convenient non-invasive access to the complex and dynamic molecular features of cancer through peripheral blood has galvanized translational researchers around this topic with compelling routes to clinical implementation, particularly in the post-treatment surveillance setting. Although analysis methods must contend with the small quantities of ctDNA present in most patients, and the relative over-abundance of background cfDNA derived from normal tissues, recent technical innovations have led to dramatic improvements in the sensitivity of ctDNA detection. As a result, ever more studies are investigating the clinical utility of ctDNA for applications in (1) treatment response assessment, (2) identification of emerging resistance mechanisms, (3) minimal residual disease detection, and (4) characterization of clonal heterogeneity and selection. In this review, we describe the detection methods currently used in clinical studies to assess low fractions of ctDNA, as well as their utility in the applications previously described. Finally, we address current limitations that have hampered the clinical implementation of ctDNA analysis for post-treatment surveillance and propose steps that could be made to address them. (C) 2018 Elsevier Inc. All rights reserved.
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