Colorectal cancer (CRC) remains one of the leading causes of cancer-related morbidity and mortality worldwide. Despite significant advances in screening and treatment, the prognosis for advanced-stage disease continues to be poor. One thriving area of research focuses on the use of epigenetic alterations for the diagnosis, prediction of treatment response, and prognosis of CRC. In this study, we evaluated original studies and meta-analyses published within the past five years to identify the most clinically relevant epigenetic biomarkers. DNA methylation-based assays, particularly those targetingSDC2andSEPT9in stool and plasma, exhibit superior diagnostic accuracy compared to other epigenetic modalities. Circulating microRNAs (miRNAs), including miR-211, miR-197, and miR-21, as well as specific long non-coding RNAs (lncRNAs) such as SNHG14, LINC01485, and ASB16-AS1, also show promising diagnostic potential. Furthermore, panels combining multiple epigenetic markers, especially those incorporating DNA methylation targets, have demonstrated improved sensitivity and specificity for early-stage CRC detection. In the context of therapeutic prediction, microRNAs such as miR-140, miR-21, and miR-4442 have been associated with chemotherapy resistance and recurrence risk. DNA methylation markers likeLINE-1,mSEPT9andERCC1have also shown predictive value, while lncRNAs including MALAT1 and GAS6-AS1 remain less validated. Regarding prognosis, miRNAs appear to be the most promising biomarkers, with miR-675-5p and miR-150 being associated with poor survival, while miR-767-5p and miR-215 predict favorable outcomes. Methylation ofNKX6.1,IGFBP3, andLMX1Ahas been identified as an independent negative prognostic factor, whileSFRP2hypermethylation is linked to better prognosis. Selected lncRNAs, including THOR and LINC01094, have also demonstrated significant prognostic value. Despite these advances, challenges persist, including inconsistent reporting, limited external validation, and a lack of replication by independent research groups.
结直肠癌（CRC）仍是全球癌症相关发病率和死亡率的主要原因之一。尽管筛查和治疗已取得显著进展，晚期疾病的预后仍然较差。当前研究的热点领域聚焦于利用表观遗传学改变进行CRC的诊断、治疗反应预测及预后评估。本研究评估了过去五年内发表的原始研究和荟萃分析，以确定最具临床相关性的表观遗传学生物标志物。基于DNA甲基化的检测方法，特别是针对粪便和血浆中SDC2和SEPT9的检测，相较于其他表观遗传学方法展现出更优的诊断准确性。循环微RNA（miRNA），包括miR-211、miR-197和miR-21，以及特定的长链非编码RNA（lncRNA），如SNHG14、LINC01485和ASB16-AS1，也显示出良好的诊断潜力。此外，结合多种表观遗传标志物的组合检测，尤其是包含DNA甲基化靶标的组合，在早期CRC检测中表现出更高的敏感性和特异性。在治疗预测方面，miR-140、miR-21和miR-4442等微RNA与化疗耐药性和复发风险相关。DNA甲基化标志物如LINE-1、mSEPT9和ERCC1也显示出预测价值，而MALAT1和GAS6-AS1等lncRNA的验证仍不充分。在预后评估方面，miRNA似乎是最有前景的生物标志物，其中miR-675-5p和miR-150与不良生存率相关，而miR-767-5p和miR-215则预示良好预后。NKX6.1、IGFBP3和LMX1A的甲基化已被确定为独立的负面预后因素，而SFRP2的高甲基化则与较好的预后相关。部分lncRNA，包括THOR和LINC01094，也显示出显著的预后价值。尽管取得了这些进展，仍存在诸多挑战，包括报告不一致、外部验证有限以及缺乏独立研究团队的重复验证。
肿瘤(癌症)患者之家