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Updated: Aug 11, 2026
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A Standardized Liquid Biopsy Preanalytical Protocol for Downstream Circulating-Free DNA Applications
Published on: September 16, 2022
Liquid Biopsies for Cancer: A Translational Science Review
Jessica Mezzanotte-Sharpe1, Katrina Piemonte2, Ben H Park1
1Vanderbilt-Ingram Cancer Center, Division of Hematology and Oncology, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
JAMA
|August 10, 2026
Summary
Circulating tumor DNA (ctDNA) analysis aids in monitoring cancer progression and treatment response by detecting tumor DNA fragments in blood. Early ctDNA detection can signal recurrence or guide therapy changes before imaging reveals disease progression.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Circulating tumor DNA (ctDNA) analysis involves extracting and analyzing tumor DNA fragments from a patient's bloodstream.
- ctDNA evaluation aids in monitoring cancer progression, detecting residual disease post-treatment, and identifying genetic alterations impacting treatment efficacy.
Purpose of the Study:
- To explore the utility of ctDNA analysis in cancer management.
- To assess ctDNA's role in treatment selection, monitoring response, and predicting recurrence.
Main Methods:
- ctDNA sequencing to identify cancer cell gene variants.
- Monitoring ctDNA levels to assess treatment response and detect resistance or recurrence.
- Correlation of ctDNA levels with survival outcomes in various cancer types, including urothelial carcinoma and colorectal cancer.
Main Results:
- ctDNA sequencing identifies actionable gene variants for targeted therapies in lung, colorectal, and breast cancers.
- Changes in ctDNA levels correlate with treatment response or resistance.
- ctDNA detection after curative therapy strongly predicts recurrence and poorer survival, with higher levels associated with adverse outcomes.
- Minimal residual disease detection via ctDNA can precede radiographic progression, enabling earlier therapeutic adjustments.
- Molecular relapse was detected significantly earlier in colorectal cancer patients using ctDNA compared to imaging surveillance.
Conclusions:
- ctDNA analysis is a valuable tool for monitoring cancer, guiding therapy selection, and detecting minimal residual disease.
- ctDNA can inform treatment decisions and timing, potentially preventing unnecessary therapies.
- Optimal clinical applications, timing of testing, management of positive results without radiographic disease, and cost-effectiveness require further investigation.
