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Genome-wide methylation profiling identified methylated KCNA3 and OTOP2 as promising diagnostic markers for esophageal squamous cell carcinoma

Authors :
Yan Bian
Ye Gao
Chaojing Lu
Bo Tian
Lei Xin
Han Lin
Yanhui Zhang
Xun Zhang
Siwei Zhou
Kangkang Wan
Jun Zhou
Zhaoshen Li
Hezhong Chen
Luowei Wang
Yuanyuan Ji
Source :
Chinese Medical Journal, Vol 137, Iss 14, Pp 1724-1735 (2024)
Publication Year :
2024
Publisher :
Wolters Kluwer, 2024.

Abstract

Abstract. Background:. Early detection of esophageal squamous cell carcinoma (ESCC) can considerably improve the prognosis of patients. Aberrant cell-free DNA (cfDNA) methylation signatures are a promising tool for detecting ESCC. However, available markers based on cell-free DNA methylation are still inadequate. This study aimed to identify ESCC-specific cfDNA methylation markers and evaluate the diagnostic performance in the early detection of ESCC. Methods:. We performed whole-genome bisulfite sequencing (WGBS) for 24 ESCC tissues and their normal adjacent tissues. Based on the WGBS data, we identified 21,469,837 eligible CpG sites (CpGs). By integrating several methylation datasets, we identified several promising ESCC-specific cell-free DNA methylation markers. Finally, we developed a dual-marker panel based on methylated KCNA3 and OTOP2, and then, we evaluated its performance in our training and validation cohorts. Results:. The ESCC diagnostic model constructed based on KCNA3 and OTOP2 had an AUC of 0.91 [95% CI: 0.85–0.95], and an optimal sensitivity and specificity of 84.91% and 94.32%, respectively, in the training cohort. In the independent validation cohort, the AUC was 0.88 [95% CI: 0.83–0.92], along with an optimal sensitivity of 81.5% and specificity of 92.9%. The model sensitivity for stage I–II ESCC was 78.4%, which was slightly lower than the sensitivity of the model (85.7%) for stage III–IV ESCC. Conclusion:. The dual-target panel based on cfDNA showed excellent performance for detecting ESCC and might be an alternative strategy for screening ESCC.

Subjects

Subjects :
Medicine

Details

Language :
English
ISSN :
03666999, 25425641, and 00000000
Volume :
137
Issue :
14
Database :
Directory of Open Access Journals
Journal :
Chinese Medical Journal
Publication Type :
Academic Journal
Accession number :
edsdoj.33ccd370bde04dd1bce73ae731b74e67
Document Type :
article
Full Text :
https://doi.org/10.1097/CM9.0000000000002832