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Updated: Jan 2, 2026
Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
Assessing the Concordance of Genomic Alterations between Circulating-Free DNA and Tumour Tissue in Cancer Patients
Leila Jahangiri1,2, Tara Hurst1
1Department of Life Sciences, Birmingham City University, Birmingham B15 3TN, UK.
Abstract:
Somatic alterations to the genomes of solid tumours, which in some cases represent actionable drivers, provide diagnostic and prognostic insight into these complex diseases. Spatial and longitudinal tracking of somatic genomic alterations (SGAs) in patient tumours has emerged as a new avenue of investigation, not only as a disease monitoring strategy, but also to improve our understanding of heterogeneity and clonal evolution from diagnosis through disease progression. Furthermore, analysis of circulating-free DNA (cfDNA) in the so-called "liquid biopsy" has emerged as a non-invasive method to identify genomic information to inform targeted therapy and may also capture the heterogeneity of the primary and metastatic tumours. Considering the potential of cfDNA analysis as a translational laboratory tool in clinical practice, establishing the extent to which cfDNA represents the SGAs of tumours, particularly actionable driver alterations, becomes a matter of importance, warranting standardisation of methods and practices. Here, we assess the utilisation of cfDNA for molecular profiling of SGAs in tumour tissue across a broad range of solid tumours. Moreover, we examine the underlying factors contributing to discordance of detected SGAs between cfDNA and tumour tissue.
Insights
This study compares somatic genomic alterations (SGAs) in solid tumors using circulating-free DNA (cfDNA) liquid biopsies versus tumor tissue. It highlights the potential of cfDNA for molecular profiling and identifies factors causing discrepancies.
Area of Science:
- Genomic medicine
- Cancer research
- Translational oncology
Background:
- Somatic genomic alterations (SGAs) in solid tumors offer diagnostic and prognostic insights.
- Tracking SGAs spatially and longitudinally aids understanding of tumor heterogeneity and evolution.
- Circulating-free DNA (cfDNA) liquid biopsies provide a non-invasive method for genomic profiling.
Purpose of the Study:
- To assess cfDNA's utility for molecular profiling of SGAs across diverse solid tumors.
- To determine the extent to which cfDNA reflects tumor SGAs, especially actionable drivers.
- To investigate factors contributing to discordance in SGA detection between cfDNA and tumor tissue.
Main Methods:
- Analysis of cfDNA for molecular profiling of SGAs in a broad range of solid tumors.
- Comparison of cfDNA-detected SGAs with those found in matched tumor tissue.
- Examination of factors influencing discordance between cfDNA and tumor tissue SGA profiles.
Main Results:
- cfDNA analysis can capture genomic information from primary and metastatic tumors.
- The study evaluates the concordance of SGAs detected in cfDNA versus tumor tissue.
- Factors contributing to discrepancies in SGA detection are identified and analyzed.
Conclusions:
- cfDNA holds significant potential as a translational tool for molecular profiling in clinical practice.
- Standardization of methods is crucial for reliable cfDNA analysis in oncology.
- Understanding discordance factors is key to optimizing cfDNA's role in cancer management.
