Background: In cancer care, the MLH1 gene is crucial for DNA mismatch repair (MMR), serving as a vital tumor suppressor. Evaluating MLH1 protein expression status, followed by analysis of MLH1 promoter methylation, has become a key diagnostic and prognostic approach. Our study investigates the complex link between MLH1 methylation and prognosis in endometrial adenocarcinoma (EA) patients.Methodology: MLH1 methylation status was accessed by a Pyrosequencing (PSQ) assay. Qualitative positivity for methylation was established if it exceeded the 11% cut-off; as well, a quantitative methylation analysis was conducted to establish correlations with clinicopathological data, relapse-free survival, and disease-free survival.Results:Our study revealed that 33.3% of patients without MLH1 methylation experienced relapses, surpassing the 23.3% in patients with methylation. Furthermore, 16.7% of patients without methylation succumbed to death, with a slightly higher rate of 17.6% in methylated patients. Qualitative comparisons highlighted that the mean methylation rate in patients experiencing relapse was 35.8%, whereas in those without relapse, it was 42.2%. This pattern persisted in disease-specific survival (DSS), where deceased patients exhibited a higher mean methylation level of 49.1% compared to living patients with 38.8%.Conclusions: Our findings emphasize the efficacy of PSQ for evaluating MLH1 methylation. While unmethylation appears to be associated with a higher relapse rate, the survival rate does not seem to be influenced by methylation. Quantitative percentages suggest that elevated MLH1 methylation is linked to relapse and mortality, though a study with a larger sample size would be essential for statistically significant results.
背景：在癌症治疗中，MLH1基因对于DNA错配修复（MMR）至关重要，是一种重要的肿瘤抑制因子。评估MLH1蛋白表达状态，随后分析MLH1启动子甲基化，已成为关键的诊断和预后方法。本研究探讨了子宫内膜腺癌（EA）患者中MLH1甲基化与预后之间的复杂联系。 方法：通过焦磷酸测序（PSQ）检测MLH1甲基化状态。若甲基化水平超过11%的阈值，则定性为阳性；同时进行定量甲基化分析，以建立与临床病理数据、无复发生存期和无病生存期的相关性。 结果：我们的研究显示，33.3%的未甲基化患者经历了复发，高于甲基化患者的23.3%。此外，16.7%的未甲基化患者死亡，甲基化患者的死亡率略高，为17.6%。定性比较表明，复发患者的平均甲基化率为35.8%，而未复发患者为42.2%。这一模式在疾病特异性生存期（DSS）中持续存在，死亡患者的平均甲基化水平为49.1%，高于存活患者的38.8%。 结论：我们的研究结果强调了PSQ在评估MLH1甲基化方面的有效性。虽然未甲基化似乎与较高的复发率相关，但生存率似乎不受甲基化影响。定量百分比表明，较高的MLH1甲基化与复发和死亡率相关，但需要更大样本量的研究以获得统计学上显著的结果。
肿瘤(癌症)患者之家