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Updated: Mar 30, 2026
Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
"Liquid biopsy"-ctDNA detection with great potential and challenges
Mingwei Ma1, Hongcheng Zhu1, Chi Zhang1
11 Department of Radiation Oncology, Peking University First Hospital, No.7, Xishiku Str., Xicheng District, Beijing 100034, China ; 2 Department of Radiation Oncology, The First Affiliated Hospital, Nanjing Medical University, 300 Guangzhou Road, Nanjing 210029, China ; 3 Department of General Surgery, Affiliated Drum Tower Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing 210008, China.
Circulating tumor DNA (ctDNA) offers a noninvasive, real-time cancer biomarker for diagnosis and prognosis. Challenges remain in standardizing ctDNA analysis due to complex cancer biology and varied detection methods.
Area of Science:
- Oncology
- Molecular Biology
- Biochemistry
Background:
- Circulating tumor DNA (ctDNA) is an emerging noninvasive biomarker for cancer management.
- ctDNA analysis provides real-time diagnostic and prognostic information throughout cancer progression and treatment.
- Tumor-specific abnormalities in ctDNA include mutations, epigenetic alterations, microsatellite instability (MSI), and loss of heterozygosity (LOH).
Purpose of the Study:
- To review the current understanding and applications of ctDNA as a cancer biomarker.
- To focus on tumor-specific DNA mutations, epigenetic alterations, and detection methods for ctDNA.
- To discuss the advantages and disadvantages of ctDNA analysis in cancer care.
Main Methods:
- Literature review focusing on ctDNA detection methods and biomarkers.
- Analysis of studies evaluating ctDNA for diagnostic and prognostic purposes.
- Discussion of challenges including assay sensitivity, specificity, and standardization.
Main Results:
- ctDNA analysis offers valuable insights into cancer before, during, and after treatment.
- Inconsistent study results are attributed to diverse detection techniques and processing methods.
- Assay sensitivity and specificity remain critical challenges in ctDNA analysis.
Conclusions:
- Standardization of ctDNA biomarkers and detection methods is crucial for reliable clinical application.
- Further research is needed to overcome analytical challenges and fully leverage ctDNA's potential.
- ctDNA holds significant promise for advancing personalized cancer medicine.
