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Updated: Nov 25, 2025
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
[Precision Medicine for Advanced Solid Malignancies Based on Circulating Tumor DNA Analysis]
Takahiro Ishii1, Yoshiaki Nakamura
1Dept. of Gastrointestinal Oncology, National Cancer Center Hospital East.
Abstract:
Cancer precision medicine has become widespread in the world. In Japan, genomic profiling tumor tissues using next generation sequencing(NGS)has been reimbursed to enable simultaneous measurement of multiple biomarkers and genomic abnormalities in clinical practice. However, NGS analysis of tumor tissue has several problems, including long turnaround time, and difficulty in capturing heterogeneity and longitudinal genotyping. Liquid biopsy, an advanced technique that has been developed in recent years, can assess the status of tumors using samples of body fluids, such as blood and urine, without the use of tumor tissue. In particular, circulating tumor DNA(ctDNA), which is released from tumor cells into the blood by apoptosis and necrosis, can be used to select molecularly targeted therapies, monitor therapeutic efficacy, and determine risk of recurrence and select for adjuvant chemotherapy by assessment of minimal residual disease(MRD). In this review, we outline the usefulness, disadvantages and future perspectives of ctDNA analysis.
Insights
Liquid biopsy using circulating tumor DNA (ctDNA) offers a less invasive alternative to tissue analysis for cancer precision medicine. This method aids in selecting targeted therapies and monitoring treatment effectiveness.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Cancer precision medicine is globally advancing, with Japan utilizing next-generation sequencing (NGS) for tumor tissue genomic profiling.
- NGS of tumor tissue presents challenges such as extended turnaround times and limitations in capturing tumor heterogeneity and longitudinal changes.
Purpose of the Study:
- To review the utility, drawbacks, and future potential of circulating tumor DNA (ctDNA) analysis in cancer care.
- To highlight ctDNA as a key component of liquid biopsy for non-invasive tumor assessment.
Main Methods:
- Review of current literature on liquid biopsy techniques, focusing on ctDNA.
- Analysis of ctDNA's role in selecting molecularly targeted therapies.
- Evaluation of ctDNA for monitoring therapeutic efficacy and minimal residual disease (MRD).
Main Results:
- Liquid biopsy, particularly ctDNA analysis, provides a non-invasive method to assess tumor status using bodily fluids.
- ctDNA analysis facilitates personalized treatment selection and monitoring of treatment response.
- ctDNA aids in assessing recurrence risk and guiding adjuvant chemotherapy decisions through MRD detection.
Conclusions:
- ctDNA analysis represents a significant advancement in liquid biopsy, offering a viable alternative to traditional tumor tissue analysis.
- The application of ctDNA analysis in clinical practice is expanding, with ongoing research addressing its limitations and exploring future perspectives.
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