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Updated: Aug 22, 2025

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Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
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A Novel Plasma-Based Methylation Panel for Upper Gastrointestinal Cancer Early Detection
Cheng Peng1, Guodong Zhao2,3, Bing Pei4
1Department of Gastroenterology, The Affiliated Jiangning Hospital of Nanjing Medical University, Nanjing 211100, China.
Cancers
|November 11, 2022
Summary
A new blood test using three methylated genes (ELMO1, ZNF582, TFPI2) shows promise for early upper gastrointestinal cancer detection. This non-invasive method offers improved sensitivity and specificity for identifying cancer in its early stages.
Area of Science:
- Oncology
- Molecular Diagnostics
- Biomarker Discovery
Background:
- Upper gastrointestinal cancer (UGC) is a leading cause of cancer mortality in China.
- Late-stage diagnosis significantly contributes to low five-year survival rates for UGC.
- There is a critical need for non-invasive, cost-effective early detection methods for UGC.
Purpose of the Study:
- To develop and evaluate a novel plasma-based methylation panel for the early detection of upper gastrointestinal cancer.
- To assess the diagnostic performance of individual and combined methylated biomarkers (ELMO1, ZNF582, TFPI2) in plasma samples.
Main Methods:
- A panel was developed to simultaneously detect methylation of three biomarkers (ELMO1, ZNF582, TFPI2) and an internal control gene in plasma.
- Plasma samples from 186 UGC patients and 190 control subjects were analyzed.
- Quantitative PCR was used to assess biomarker amplification efficiency and methylation levels.
Main Results:
- The methylation panel demonstrated excellent PCR amplification efficiency and reproducibility.
- Significantly higher methylation levels of ELMO1, ZNF582, and TFPI2 were observed in UGC samples compared to controls.
- The combined three-marker panel achieved a sensitivity of 71.0%, specificity of 90.0%, and an AUC of 0.870 for UGC detection.
Conclusions:
- Methylated ELMO1, ZNF582, and TFPI2 are specific biomarkers for upper gastrointestinal cancer.
- The three-methylated gene panel offers a promising non-invasive alternative for early UGC detection.
- This approach could improve patient outcomes by enabling earlier diagnosis and treatment.
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