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Research Article

RUNX1 methylation as a cancer biomarker in differentiating papillary thyroid cancer from benign thyroid nodules

    Junjie Li‡

    Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing, 210000, China

    ‡These authors contributed equally to this work

    Search for more papers by this author

    ,
    Yifei Yin‡

    Department of Thyroid & Breast Surgery, Affiliated Huai'an Hospital of Xuzhou Medical University & Second People's Hospital of Huai'an, Huai'an, 223000, China

    ‡These authors contributed equally to this work

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    ,
    Haixia Huang‡

    Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing, 210000, China

    ‡These authors contributed equally to this work

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    ,
    Mengxia Li

    Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing, 210000, China

    ,
    Hong Li

    Department of Pathology, Affiliated Huai'an Hospital of Xuzhou Medical University & Second People's Hospital of Huai'an, Huai'an, 223000, China

    ,
    Minmin Zhang

    Department of Thyroid & Breast Surgery, Affiliated Huai'an Hospital of Xuzhou Medical University & Second People's Hospital of Huai'an, Huai'an, 223000, China

    ,
    Chenxia Jiang

    **Author for correspondence:

    E-mail Address: jiangcx306@163.com

    Department of Pathology, Affiliated Hospital of Nantong University, Nantong, 226001, China

    &
    Rongxi Yang

    *Author for correspondence:

    E-mail Address: rongxiyang@njmu.edu.cn

    Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing, 210000, China

    Published Online:https://doi.org/10.2217/epi-2023-0338

    Aim: It remains a challenge to accurately identify malignancy of thyroid nodules when biopsy is indeterminate. The authors aimed to investigate the abnormal DNA methylation signatures in papillary thyroid cancer (PTC) compared with benign thyroid nodules (BTNs). Methods: The authors performed genome profiling by 850K array and RNA sequencing in early-stage PTC and BTN tissue samples. The identified gene was validated in two independent case–control studies using mass spectrometry. Results: Hypomethylation of RUNX1 in PTC was identified and verified (all odds ratios: ≥1.50). RUNX1 methylation achieved good accuracy in differentiating early-stage PTC from BTNs, especially for younger women. Conclusion: The authors disclosed a significant association between RUNX1 hypomethylation and PTC, suggesting RUNX1 methylation as a potential biomarker for companion diagnosis of malignant thyroid nodules.

    Graphical abstract

    Papers of special note have been highlighted as: •• of considerable interest

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