Reyila Abudurousuli, Gao Xianchun, Yu Jun, Nie Yongzhan
State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers, Fourth Military Medical University, Xi'an, Shaanxi, China.
National Clinical Research Center for Digestive Diseases, Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, Shaanxi, China.
Epigenomics. 2025 May;17(7):475-488. doi: 10.1080/17501911.2025.2476380. Epub 2025 Mar 14.
Gastrointestinal (GI) cancers impose a significant disease burden, underscoring the critical importance of accurate prognosis prediction and treatment response evaluation. DNA methylation, one of the most extensively studied epigenetic modifications, has gained prominence due to its reliable measurement across various sample types. Numerous studies have reported that DNA methylation was linked to the diagnosis, prognosis and treatment response in malignancies, including GI cancers. While its diagnostic role in GI cancers has been comprehensively reviewed. Recent research has increasingly highlighted its potential in prognosis prediction and treatment response evaluation. However, no existing reviews have exclusively focused on these two aspects. In this review, we retrieved relevant studies and included 230 of them in our discussion, thereby providing an overview of the clinical applicability of aberrant DNA methylation in these two fields among patients with esophageal, gastric, colorectal, pancreatic cancers, and hepatocellular carcinomas. Additionally, we discuss the limitations of the current literature and propose directions for future research. Specifically, we emphasize the need for standardized DNA methylation methodologies and advocate for the integration of gene panels, rather than single genes, to address tumor heterogeneity more effectively.
胃肠道(GI)癌症带来了沉重的疾病负担,凸显了准确预测预后和评估治疗反应的至关重要性。DNA甲基化作为研究最为广泛的表观遗传修饰之一,因其能够在各种样本类型中进行可靠测量而备受关注。众多研究报告称,DNA甲基化与包括胃肠道癌症在内的恶性肿瘤的诊断、预后及治疗反应相关。虽然其在胃肠道癌症中的诊断作用已得到全面综述,但近期研究越来越多地强调了其在预后预测和治疗反应评估方面的潜力。然而,现有的综述均未专门聚焦于这两个方面。在本综述中,我们检索了相关研究,并在讨论中纳入了其中的230项研究,从而概述了异常DNA甲基化在食管癌、胃癌、结直肠癌、胰腺癌和肝细胞癌患者的这两个领域中的临床适用性。此外,我们讨论了当前文献的局限性,并提出了未来研究的方向。具体而言,我们强调了标准化DNA甲基化方法的必要性,并提倡整合基因panel而非单个基因,以更有效地应对肿瘤异质性。