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Updated: Oct 4, 2025
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Minimally Invasive Real-Time Detection of Actionable Mutations in Patients With Metastatic Solid Tumors Using
Kyaw L Aung1, Philippe L Bedard1, Celeste Yu1
1Kyaw L. Aung, Philippe L. Bedard, Celeste Yu, Scott L. Boerner, Sangeet Ghai, Hal K. Berman, Stefano Serra, Amanda Giesler, Lailah Ahmed, Anthony M. Joshua, Amit M. Oza, Eitan Amir, Tong Zhang, Mahadeo A. Sukhai, Tracy L. Stockley, Suzanne Kamel-Reid, Lillian L. Siu, and Aaron R. Hansen, University Health Network; Philippe L. Bedard, Amit M. Oza, Eitan Amir, Tracy L. Stockley, Suzanne Kamel-Reid, Lillian L. Siu, and Aaron R. Hansen, University of Toronto; Philip C. Zuzarte, Ontario Institute of Cancer Research, Toronto, Ontario; Malcolm J. Moore, British Columbia Cancer Agency, Vancouver, British Columbia, Canada; Anthony M. Joshua, Kinghorn Cancer Centre, Sydney, New South Wales, Australia; and John D. McPherson, University of California Davis, Sacramento, CA.
Fine-needle biopsy (FNB) and liquid biopsy effectively identify actionable tumor mutations. These minimally invasive methods show high concordance with core-needle biopsy (CNB), offering real-time genotype assessment for advanced solid tumors.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genomics
Background:
- Minimally invasive tumor sampling methods like fine-needle biopsy (FNB) and liquid biopsy offer real-time tumor genotype assessment.
- Benchmarking these methods against traditional core-needle biopsy (CNB) or surgical excision is crucial for establishing their clinical utility.
Purpose of the Study:
- To compare the diagnostic accuracy of FNB and liquid biopsy with CNB for tumor mutation profiling.
- To assess the concordance of actionable mutations detected by different biopsy methods.
Main Methods:
- Prospective recruitment of patients with advanced solid tumors.
- Mutation profiling of tumor DNA from CNB, FNB, and liquid biopsy using mass spectrometry or next-generation sequencing.
- Actionability assessment of mutations using the OncoKB Web tool.
Main Results:
- FNB (83%) and CNB (73%) provided sufficient DNA for mutation profiling in a majority of patients.
- High concordance (96%) was observed between actionable mutations detected by CNB and FNB.
- Actionable mutations were detected in circulating tumor DNA (ctDNA) in 67% of cases, with two additional mutations found exclusively in ctDNA.
Conclusions:
- Optimally processed FNB and liquid biopsy are reliable methods for routine tumor mutation profiling.
- These techniques can effectively identify actionable mutations in patients with advanced solid tumors.
