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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
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Clinical Utility of Monitoring Circulating Tumor DNA Using a Targeted Next-generation Sequencing Panel in Patients
Hyoeun Shim1, Soobeen Heo2, Jiyu Sun3
1Department of Laboratory Medicine, National Cancer Center, Goyang, Korea.
Annals of Laboratory Medicine
|June 18, 2025
Summary
Monitoring circulating tumor DNA (ctDNA) after colorectal cancer treatment reveals that increased KRAS and TP53 variant allele frequencies indicate a poor prognosis. This blood test provides valuable insights for managing colorectal cancer.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genetics
Background:
- Circulating tumor DNA (ctDNA) offers noninvasive monitoring for solid tumors.
- The clinical utility of ctDNA profiling post-surgery or chemotherapy in colorectal cancer requires further investigation.
Purpose of the Study:
- To evaluate the clinical implications of ctDNA next-generation sequencing (NGS) panel testing after surgery or chemotherapy in colorectal cancer patients.
- To assess the correlation between ctDNA alterations and patient outcomes.
Main Methods:
- 23 colorectal cancer patients provided samples at baseline and post-treatment.
- ctDNA was analyzed using a 46-gene NGS panel, with variant allele frequencies (VAFs) determined.
- Follow-up ctDNA analysis utilized NGS or droplet digital PCR (ddPCR); clinical status and survival were analyzed.
Main Results:
- Mutations were detected in 92.8% of stage II/III and 100% of stage IV patients.
- Common mutations included KRAS (65%), APC (35%), TP53 (30%), PIK3CA (22%), and RET (17%).
- Increased KRAS and TP53 VAFs correlated with significantly higher mortality risk.
Conclusions:
- Elevated KRAS and TP53 VAFs in ctDNA are associated with poor prognosis in colorectal cancer.
- ddPCR-based ctDNA monitoring showed comparable results to NGS.
- ctDNA monitoring during treatment is clinically informative for managing colorectal cancer.
