期刊
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
卷 21, 期 3, 页码 299-310出版社
TAYLOR & FRANCIS AS
DOI: 10.1080/14737159.2021.1889371
关键词
Cancer management; cell-free DNA; circulating tumor DNA; liquid biopsy analysis; personalized medicine; precision medicine; ultrasensitive sequencing
类别
资金
- Assar Gabrielssons Research Foundation
- ERDF [CZ.1.05/1.1.00/02.0109]
- Johan Jansson Foundation for Cancer Research
- Knut and Alice Wallenberg Foundation
- Wallenberg Centre for Molecular and Translational Medicine, University of Gothenburg, Gothenburg, Sweden
- RVO [86652036]
- SPIDIA4P (H2020-SC1-HCO-02-2016)
- Stiftelsen Anna Brita och Bo Castegrens Minne
- Swedish Cancer Society [19-0306]
- Swedish Research Council [2017-01392]
- Swedish Childhood Cancer Foundation [TJ2015-0058, 2020-0007, MTI2019-0008]
- Swedish Society for Medical Research [P16-0200]
- Swedish government [716321]
- Wilhelm and Martina Lundgren Foundation for Scientific Research
- Sweden's Innovation Agency [2019-01431, 2020-04141]
- Vinnova [2019-01431] Funding Source: Vinnova
- Formas [2019-01431] Funding Source: Formas
ctDNA analysis has become a relevant biomarker in cancer management, but biological and technical challenges need to be addressed before widespread clinical implementation. Analysis of multiple mutations combined with simultaneous assessment of other analytes may be a solution to improve sensitivity. Improved standardization and guidelines will facilitate the introduction of ctDNA analysis into clinical routine.
Introduction: Circulating tumor DNA (ctDNA) has become a relevant biomarker in cancer management, allowing tumor assessment through analysis of minimally invasive liquid biopsies. Applications include screening, diagnostics, monitoring of treatment efficacy and detection of minimal residual disease as well as relapse. The potential of ctDNA analysis is significant, but several biological and technical challenges need to be addressed before widespread clinical implementation. Areas covered: Several clinical applications where ctDNA analysis may be beneficial require detection of individual DNA molecules. Consequently, to acquire accurate and informative data the entire workflow from sampling to final data interpretation needs to be optimized. In this review, we discuss the biological and technical challenges of ctDNA analysis and how preanalytical and analytical approaches affect different cancer applications. Expert opinion: While numerous studies have demonstrated the potential of using ctDNA in cancer applications, yet few reports about true clinical utility exist. Despite encouraging data, the sensitivity of ctDNA analyses, i.e. the probability to detect presence of cancer in liquid biopsies, is still an issue. Analysis of multiple mutations in combination with simultaneous assessment of other analytes is one solution. Improved standardization and guidelines will also facilitate the introduction of ctDNA analysis into clinical routine.
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