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ORIGINAL RESEARCH article

Front. Cell Dev. Biol.
Sec. Developmental Epigenetics
Volume 12 - 2024 | doi: 10.3389/fcell.2024.1387959

5-hydroxymethylcytosine Profilings in Circulating Cell-free DNA as diagnostic biomarkers for DLBCL

Provisionally accepted
Chen Hangyu Chen Hangyu 1,2Duolikun Maimaitiyasen Duolikun Maimaitiyasen 2,3*Haichuan Zhu Haichuan Zhu 1*
  • 1 Wuhan University of Science and Technology, Wuhan, Hubei Province, China
  • 2 Peking University Third Hospital, Haidian, Beijing Municipality, China
  • 3 Hainan University, Haikou, Hainan Province, China

The final, formatted version of the article will be published soon.

    Background: 5-Hydroxymethylcytosine (5hmC) is an important DNA epigenetic modification that plays a vital role in tumorigenesis, progression and prognosis. Previous studies have shown that it plays an important role in the prognosis of diffuse large B-cell lymphoma (DLBCL) and in the prediction of the efficacy of R-CHOP therapy. However, its potential for diagnosing DLBCL has not been reported. Here, we investigated the utility of 5hmC in plasma cfDNA in the diagnosis of DLBCL.: Applying 5hmC-Seal technique, we obtained genome-wide 5hmC profiles in plasma cell-free DNA (cfDNA) samples from 176 Chinese subjects, included 86 DLBCL patients and 90 healthy controls. To investigate whether 5hmC can be used as a diagnostic biomarker for DLBCL, we separated patients and healthy controls into training (DLBCL=56, Healthy=60) and validation (DLBCL=30, Healthy=30) cohorts and developed a 5hmC-based logistic regression model from the training cohort to diagnose the DLBCL patients in the validation cohort.Results: In this study, we found 10 5hmC biomarkers, and the models created by these differentially regulated 5hmC modified genes showed high accuracy in distinguishing DLBCL patients from healthy controls (validation cohort: AUC=0.94; (95% CI 88.8% -99.4%)).Our study suggested that 5hmC markers derived from plasma cfDNA can served as effective epigenetic biomarkers for minimally invasive diagnosis of DLBCL.

    Keywords: epigenetics, DLBCL, 5-hydroxymethylcytosine (5hmC), Logistic Regression modeling, cell-free DNA

    Received: 19 Feb 2024; Accepted: 24 Jun 2024.

    Copyright: © 2024 Hangyu, Maimaitiyasen and Zhu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Duolikun Maimaitiyasen, Hainan University, Haikou, 570228, Hainan Province, China
    Haichuan Zhu, Wuhan University of Science and Technology, Wuhan, 430081, Hubei Province, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.