Identifying potential DNA methylation markers for the detection of esophageal cancer in plasma
Background: Esophageal cancer (EC) is a leading cause of cancer-related deaths in China, with the 5-year survival rate reaching less than 30%, because most cases were diagnosed and treated at the advanced stage. However, there is still a lack of low-cost, efficient, and accurate non-invasive methods...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-10-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1222617/full |
| _version_ | 1797666493794615296 |
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| author | Bing Pei Bing Pei Guodong Zhao Guodong Zhao Zhixin Geng Yue Wang Menglin Wang Xiaomei Wang Shangmin Xiong Shangmin Xiong Minxue Zheng |
| author_facet | Bing Pei Bing Pei Guodong Zhao Guodong Zhao Zhixin Geng Yue Wang Menglin Wang Xiaomei Wang Shangmin Xiong Shangmin Xiong Minxue Zheng |
| author_sort | Bing Pei |
| collection | DOAJ |
| description | Background: Esophageal cancer (EC) is a leading cause of cancer-related deaths in China, with the 5-year survival rate reaching less than 30%, because most cases were diagnosed and treated at the advanced stage. However, there is still a lack of low-cost, efficient, and accurate non-invasive methods for the early detection of EC at present.Methods: A total of 48 EC plasma and 101 control plasma samples were collected in a training cohort from 1 January 2021 to 31 December 2021, and seven cancer-related DNA methylation markers (ELMO1, ZNF582, FAM19A4, PAX1, C13orf18, JAM3 and TERT) were tested in these samples to select potential markers. In total, 20 EC, 10 gastric cancer (GC), 10 colorectal cancer (CRC), and 20 control plasma samples were collected in a validation cohort to evaluate the two-gene panel.Results:ZNF582, FAM19A4, JAM3, or TERT methylation in plasma was shown to significantly distinguish EC and control subjects (p < 0.05), and the combination of ZNF582 and FAM19A4 methylation was the two-gene panel that exhibited the best performance for the detection of EC with 60.4% sensitivity (95% CI: 45.3%–73.9%) and 83.2% specificity (95% CI: 74.1%–89.6%) in the training cohort. The performance of this two-gene panel showed no significant difference between different age and gender groups. When the two-gene panel was combined with CEA, the sensitivity for EC detection was further improved to 71.1%. In the validation cohort, the sensitivity of the two-gene panel for detecting EC, GC, and CRC was 60.0%, 30.0%, and 30.0%, respectively, with a specificity of 90.0%.Conclusion: The identified methylation marker panel provided a potential non-invasive strategy for EC detection, but further validation should be performed in more clinical centers. |
| first_indexed | 2024-03-11T19:59:11Z |
| format | Article |
| id | doaj.art-23b45138b8864eeb90a926cb9fe2d8ff |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-03-11T19:59:11Z |
| publishDate | 2023-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-23b45138b8864eeb90a926cb9fe2d8ff2023-10-04T09:43:52ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-10-011410.3389/fgene.2023.12226171222617Identifying potential DNA methylation markers for the detection of esophageal cancer in plasmaBing Pei0Bing Pei1Guodong Zhao2Guodong Zhao3Zhixin Geng4Yue Wang5Menglin Wang6Xiaomei Wang7Shangmin Xiong8Shangmin Xiong9Minxue Zheng10The Suqian Clinical College of Xuzhou Medical University, Suqian, ChinaDepartment of Clinical Laboratory, The Affiliated Suqian First People’s Hospital of Nanjing Medical University, Suqian, ChinaZhejiang University Kunshan Biotechnology Laboratory, Zhejiang University Kunshan Innovation Institute, Kunshan, ChinaDepartment of R&D, Suzhou VersaBio Technologies Co Ltd., Kunshan, ChinaDepartment of Clinical Laboratory, The Affiliated Suqian First People’s Hospital of Nanjing Medical University, Suqian, ChinaDepartment of R&D, Suzhou VersaBio Technologies Co Ltd., Kunshan, ChinaDepartment of Clinical Laboratory, The Affiliated Suqian First People’s Hospital of Nanjing Medical University, Suqian, ChinaDepartment of R&D, Suzhou VersaBio Technologies Co Ltd., Kunshan, ChinaZhejiang University Kunshan Biotechnology Laboratory, Zhejiang University Kunshan Innovation Institute, Kunshan, ChinaDepartment of R&D, Suzhou VersaBio Technologies Co Ltd., Kunshan, ChinaSuzhou Institute of Biomedical Engineering and Technology, Chinese Academy of Sciences, Suzhou, ChinaBackground: Esophageal cancer (EC) is a leading cause of cancer-related deaths in China, with the 5-year survival rate reaching less than 30%, because most cases were diagnosed and treated at the advanced stage. However, there is still a lack of low-cost, efficient, and accurate non-invasive methods for the early detection of EC at present.Methods: A total of 48 EC plasma and 101 control plasma samples were collected in a training cohort from 1 January 2021 to 31 December 2021, and seven cancer-related DNA methylation markers (ELMO1, ZNF582, FAM19A4, PAX1, C13orf18, JAM3 and TERT) were tested in these samples to select potential markers. In total, 20 EC, 10 gastric cancer (GC), 10 colorectal cancer (CRC), and 20 control plasma samples were collected in a validation cohort to evaluate the two-gene panel.Results:ZNF582, FAM19A4, JAM3, or TERT methylation in plasma was shown to significantly distinguish EC and control subjects (p < 0.05), and the combination of ZNF582 and FAM19A4 methylation was the two-gene panel that exhibited the best performance for the detection of EC with 60.4% sensitivity (95% CI: 45.3%–73.9%) and 83.2% specificity (95% CI: 74.1%–89.6%) in the training cohort. The performance of this two-gene panel showed no significant difference between different age and gender groups. When the two-gene panel was combined with CEA, the sensitivity for EC detection was further improved to 71.1%. In the validation cohort, the sensitivity of the two-gene panel for detecting EC, GC, and CRC was 60.0%, 30.0%, and 30.0%, respectively, with a specificity of 90.0%.Conclusion: The identified methylation marker panel provided a potential non-invasive strategy for EC detection, but further validation should be performed in more clinical centers.https://www.frontiersin.org/articles/10.3389/fgene.2023.1222617/fullesophageal cancerDNA methylationnon-invasiveearly detectionplasma |
| spellingShingle | Bing Pei Bing Pei Guodong Zhao Guodong Zhao Zhixin Geng Yue Wang Menglin Wang Xiaomei Wang Shangmin Xiong Shangmin Xiong Minxue Zheng Identifying potential DNA methylation markers for the detection of esophageal cancer in plasma Frontiers in Genetics esophageal cancer DNA methylation non-invasive early detection plasma |
| title | Identifying potential DNA methylation markers for the detection of esophageal cancer in plasma |
| title_full | Identifying potential DNA methylation markers for the detection of esophageal cancer in plasma |
| title_fullStr | Identifying potential DNA methylation markers for the detection of esophageal cancer in plasma |
| title_full_unstemmed | Identifying potential DNA methylation markers for the detection of esophageal cancer in plasma |
| title_short | Identifying potential DNA methylation markers for the detection of esophageal cancer in plasma |
| title_sort | identifying potential dna methylation markers for the detection of esophageal cancer in plasma |
| topic | esophageal cancer DNA methylation non-invasive early detection plasma |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1222617/full |
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