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Updated: Jun 13, 2026
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Circulating Tumor DNA: A Breakthrough in Oncological Analyses
Zihui Gao1, Ali Sinehsepehr2, Seyed Hadi Hashemi3
1College of Basic Medical Sciences, China Three Gorges University, Yichang, Hubei, China.
Abstract:
Circulating tumor DNA (ctDNA), a fragment of cell-free DNA derived from malignant cells, has emerged as a promising biomarker in oncology. These DNA fragments carry essential genomic and epigenetic alterations, including point mutations, loss of heterozygosity, copy number variations, and promoter hypermethylation of tumor suppressor genes. ctDNA analysis enables non-invasive detection of these molecular changes, providing valuable insights into tumor biology. Moreover, abnormal methylation patterns in ctDNA-either hypo- or hypermethylation-often manifest at early stages of tumorigenesis and act as predictive indicators. The concentration and molecular profile of ctDNA correlate with tumor type, stage, and location, making it an effective tool for early cancer diagnosis, prognosis assessment, and treatment monitoring. This review summarizes the current advancements in ctDNA analysis, discusses its clinical applications across various cancer types, and highlights existing technical and biological challenges in ctDNA-based diagnostics.
Insights
Circulating tumor DNA (ctDNA) analysis offers a non-invasive method for detecting cancer biomarkers. This promising oncology tool aids in early diagnosis, prognosis, and treatment monitoring by analyzing tumor-derived DNA fragments.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Circulating tumor DNA (ctDNA) comprises cell-free DNA fragments from malignant cells, containing crucial genomic and epigenetic alterations.
- These alterations include point mutations, copy number variations, and promoter hypermethylation, offering insights into tumor biology.
Purpose of the Study:
- To review advancements in ctDNA analysis.
- To discuss clinical applications of ctDNA across various cancer types.
- To highlight challenges in ctDNA-based diagnostics.
Main Methods:
- Analysis of ctDNA for genomic and epigenetic alterations.
- Correlation of ctDNA concentration and profile with tumor characteristics.
- Review of current literature on ctDNA advancements and applications.
Main Results:
- ctDNA analysis enables non-invasive detection of molecular changes.
- Abnormal ctDNA methylation patterns can indicate early tumorigenesis and serve as predictive markers.
- ctDNA profiles correlate with tumor type, stage, and location.
Conclusions:
- ctDNA is a valuable biomarker for early cancer diagnosis, prognosis, and treatment monitoring.
- Further research is needed to address technical and biological challenges in ctDNA diagnostics.
