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Updated: Nov 11, 2025
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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 analysis for tumor diagnosis.
Yi-Hui Wang1, Zhen Song1, Xin-Yuan Hu1
1Key Laboratory of Drug Quality Control and Pharmacovigilance (Ministry of Education), China Pharmaceutical University, Nanjing, 210009, China; Department of Pharmaceutical Analysis, China Pharmaceutical University, Nanjing, 210009, China.
Talanta
|March 28, 2021
Summary
Detecting circulating tumor DNA (ctDNA) mutations in blood offers a promising, less invasive method for early cancer diagnosis. Advanced techniques like digital PCR and Next Generation Sequencing are crucial for identifying these trace mutations.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Tumorigenesis involves gradual accumulation of gene mutations, offering diagnostic potential.
- Early cancer diagnosis significantly improves survival rates and reduces mortality.
- Circulating tumor DNA (ctDNA) in peripheral blood shows promise as a liquid biopsy marker for early detection.
Purpose of the Study:
- To review principles, characteristics, and advancements in ctDNA mutation detection methods.
- To facilitate researchers in selecting appropriate ctDNA detection approaches for clinical application.
Main Methods:
- Review of sensitive and specific mutation detection methods for trace mutant ctDNA.
- Discussion of digital PCR (dPCR), BEAMing, Next Generation Sequencing (NGS), and Amplification Refractory Mutation System (ARMS).
Main Results:
- ctDNA analysis in blood can potentially replace tissue biopsies for early tumor diagnosis.
- High fragmentation and low concentration of ctDNA pose challenges for tumor staging.
- Various sensitive detection methods have been developed to overcome ctDNA limitations.
Conclusions:
- ctDNA analysis represents a significant advancement in liquid biopsy for cancer diagnostics.
- Continued development of sensitive detection methods is essential for effective ctDNA utilization.
- This review aids researchers in choosing optimal ctDNA detection strategies.
