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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
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Circulating Tumor DNA for Early Cancer Detection
Clare Fiala1, Vathany Kulasingam2,3, Eleftherios P Diamandis1,2,3
1Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.
The Journal of Applied Laboratory Medicine
|February 27, 2021
Summary
Liquid biopsy using circulating tumor DNA (ctDNA) shows promise for cancer monitoring and prognosis. However, current ctDNA blood tests face challenges in sensitivity and specificity for early cancer detection and population screening.
Area of Science:
- Oncology
- Molecular Biology
- Genomics
Background:
- Circulating tumor DNA (ctDNA) released by cancer cells is detectable in blood and other bodily fluids.
- Liquid biopsy, analyzing ctDNA via high-throughput sequencing, offers a minimally invasive approach to cancer assessment.
- ctDNA shows potential as a sensitive indicator for cancer relapse and prognosis, and for identifying targetable mutations.
Purpose of the Study:
- To evaluate the utility of ctDNA for early cancer detection.
- To assess the challenges and potential of liquid biopsy in oncology.
Main Methods:
- Quantification and examination of ctDNA using novel high-throughput sequencing technologies.
- Analysis of ctDNA in blood and other bodily fluids (cerebrospinal fluid, urine, saliva, stool).
Main Results:
- ctDNA is detected in many advanced cancers and shows promise for relapse and prognosis.
- Sequencing ctDNA aids in discovering mutations targetable by therapies.
- Significant obstacles exist for early cancer detection, including low ctDNA concentrations and issues with specificity.
Conclusions:
- ctDNA is currently not sensitive or specific enough for early diagnosis and population-wide cancer screening.
- ctDNA holds clinical value for cancer monitoring, prognosis, and therapy selection, warranting further research.
