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Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
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The signature of cancer methylation markers in maternal plasma: Factors influencing the development and application
Ying Xue1, Guodong Zhao2, Lishuang Song3
1The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, Jiangsu 215000, China.
Gene
|February 11, 2024
Summary
Cancer methylation markers can show false positives in pregnant women due to fetal DNA. This finding impacts the design of cancer liquid biopsy assays using plasma methylation analysis.
Area of Science:
- Molecular Biology
- Oncology
- Reproductive Medicine
Background:
- DNA methylation is crucial in cancer and embryo development.
- Plasma methylation markers are used for cancer early detection.
- Potential for false positives in pregnant women using cancer markers is unevaluated.
Purpose of the Study:
- To evaluate if common cancer methylation markers yield false positives in pregnant women's plasma.
- To investigate the origin of methylation signals in maternal plasma during pregnancy.
Main Methods:
- A case-control study included 138 pregnant and 44 control women.
- Plasma cell-free DNA (cfDNA) methylation levels of 11 cancer-related markers were analyzed.
- Bisulfite conversion and methylation analysis were performed on isolated cfDNA.
Main Results:
- SEPT9, CLIP4, ZNF582, SHOX2, RASSF1A, and PTGER showed significantly higher methylation in pregnant women (p < 0.05).
- Positive signals were attributed to placental/fetal cfDNA.
- CLIP4 and PTGER4 methylation was higher in assisted fertilization pregnancies (p < 0.05).
Conclusions:
- Cancer and fetus/placenta share similar DNA methylation patterns.
- Certain gastrointestinal and lung cancer methylation markers can be positive in maternal plasma.
- This necessitates careful consideration in designing plasma-based cancer liquid biopsy assays.
