摘要目的:检测食管癌组织中细胞命运决定因子( DACH1)基因的甲基化状态，分析其与患者临床病理特征及预后的关系。 方法:收集104例食管癌患者的肿瘤组织、癌旁组织和正常食管黏膜组织标本，用甲基化特异性PCR检测 DACH1基因的甲基化状态。采用单因素分析和多因素Logistic回归模型分析其与患者临床病理特征的相关性；用Kaplan-Meier生存曲线分析食管癌患者 DACH1甲基化状态与预后生存期的关系。 结果:食管癌肿瘤组织中 DACH1基因的甲基化率为30.77%(32/104)，高于癌旁组织的1.92%(2/104)和正常食管黏膜组织的0%(0/104)( P<0.05)。食管癌组织中 DACH1甲基化状态与患者的年龄、性别、病理类型无关( P>0.05)，而与肿瘤分化程度、TNM分期、淋巴结转移有关( P<0.05)。肿瘤的分化程度、TNM分期、淋巴结转移是 DACH1基因甲基化状态的独立风险因素且均与 DACH1基因甲基化状态相关。截止至2020年3月，104例食管癌患者中共死亡89例。其中 DACH1基因甲基化的食管癌患者中位生存时间为22个月，低于 DACH1基因未甲基化者的34个月( P<0.05)。 结论:食管癌中存在的 DACH1甲基化过程可能参与食管癌的发生发展。患者的肿瘤分化程度、TNM分期、淋巴结转移是 DACH1基因甲基化状态的独立风险因素。 DACH1基因未甲基化的患者具有更长的预后生存期。

abstractsObjective:To analyze the correlation of methylation status of dachshund homolog 1 (DACH1) gene in tumor tissues with clinicopathological characteristics and prognosis of patients of esophageal cancer. Methods:Tumor tissue, paracancerous tissue and normal esophageal mucosal specimens of 104 patients with esophageal cancer were collected.Methylation-specific PCR was used to determine the methylation status of the DACH1 gene. Univariate analysis and multivariate Logistic regression model were used to analyze the correlation between DACH1 methylation status and clinical pathological characteristics of the patients. Kaplan-Meier survival curve was used to analyze the relationship between DACH1 methylation status and prognostic survival of patients. Results:The methylation rate of the DACH1 gene in esophageal cancer tumor tissue was 30.77% (32/104), which was higher than those in adjacent tissues (1.92%) and normal esophageal mucosa (0%) ( P<0.05). The methylation status of the DACH1gene in tumor tissues of patients did not correlate with the patient’s age, gender, and pathological type ( P>0.05) but tumor differentiation, TNM staging, and lymph node metastasis( P<0.05). The degree of tumor differentiation, TNM stage, and lymph node metastasis of patients are independent risk factors for the methylation status of the DACH1 gene.By March 2020, 89 of the 104 patients had died. Among them, the median survival foresophageal cancer patients with DACH1 gene methylation was 22 months, which was lower than 34 months of those without DACH1 methylation ( P<0.05). Conclusion:Methylation of the DACH1 gene may be involved in the occurrence and progress of esophageal cancer. The degree of tumor differentiation, TNM stage, and lymph node metastasis of patients are independent risk factors for the methylation status of the DACH1 gene. Patients with esophageal cancer but unmethylated DACH1 gene have a longer prognostic survival.