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Genomics. 2025 Apr 4:111034. doi: 10.1016/j.ygeno.2025.111034 Q23.42024

Analysis of the clinical application value of cfDNA methylation and fragmentation in early diagnosis of esophageal cancer

cfDNA甲基化和片段化在食管癌早期诊断中临床应用价值分析 翻译改进

Xin Liu  1, Chen Liang  2, Lingwen Ding  3, Qian Zhang  4, Yi Liu  4, Wei Wang  5

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作者单位

  • 1 Department of Cardiothoracic Surgery, Xiangyang Central Hospital, Hospital Affiliated to Hubei University of Arts and Science, Xiangyang, Hubei, China; Department of Thoracic Surgery, First Hospital of Jilin University, Changchun, China.
  • 2 Department of Thoracic Surgery, First Hospital of Jilin University, Changchun, China.
  • 3 Department of Vaccination clinic, Xiangyang Center for Disease Control and Prevention, Xiangyang, Hubei, China.
  • 4 Department of Cardiothoracic Surgery, Xiangyang Central Hospital, Hospital Affiliated to Hubei University of Arts and Science, Xiangyang, Hubei, China.
  • 5 Department of Cardiothoracic Surgery, Xiangyang Central Hospital, Hospital Affiliated to Hubei University of Arts and Science, Xiangyang, Hubei, China. Electronic address: wangweizxyy@163.com.

    • DOI: 10.1016/j.ygeno.2025.111034 PMID: 40188889

    摘要 中英对照阅读

    Background: This study explores the clinical value of cfDNA methylation and fragmentation for the early diagnosis of esophageal cancer using liquid biopsy.

    Methods: Whole genome bisulfite sequencing and low-pass whole genome sequencing were utilized to detect cfDNA biomarkers, comparing 30 esophageal cancer patients with 10 healthy controls.

    Results: Significant differences in cfDNA methylation and fragmentation were observed between cancerous and non-cancerous samples (p < 0.05). A volcano plot identified 822 differentially methylated markers (817 upregulated, 5 downregulated), with SOX17, SOX1, ZNF382, ZNF667-AS1, and TFPI2 highly associated with esophageal cancer. Fragmentation markers (EDM, FSD, FSR, TFBS, CNV) showed 95 % specificity and sensitivity, with EDM demonstrating the best performance.

    Conclusion: Our study highlights the clinical potential of cfDNA methylation and fragmentation biomarkers for the early diagnosis of esophageal cancer.

    Keywords: Biomarkers; Esophageal cancer; Fragmentation; Methylation; cfDNA.

    Keywords：cfDNA methylation; Esophageal cancer; Early diagnosis

    背景： 本研究探讨了利用液体活检技术检测循环游离DNA（cfDNA）甲基化和片段化的临床价值，以实现食管癌的早期诊断。

    方法： 全基因组重亚硫酸盐测序和低通量全基因组测序被用于检测cfDNA生物标志物，在30名食管癌患者与10名健康对照之间进行比较。

    结果： 癌症样本与非癌症样本在cfDNA甲基化和片段化方面存在显著差异（p

    结论： 本研究表明cfDNA甲基化和片段化的生物标志物具有早期诊断食管癌的临床潜力。

    关键词： 生物标志物；食管癌；片段化；甲基化；cfDNA。

    关键词：循环DNA甲基化; 食管癌; 早期诊断

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    期刊名：Genomics

    缩写：GENOMICS

    ISSN：0888-7543

    e-ISSN：1089-8646

    IF/分区：3.4/Q2

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    Analysis of the clinical application value of cfDNA methylation and fragmentation in early diagnosis of esophageal cancer