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目的探讨微卫星DNA序列不稳定性(MSI)和杂合性缺失(LOH)与人食管癌发生、临床病理特征及预后的关系。方法应用聚合酶链反应(PCR)和变性聚丙烯酰胺凝胶电泳技术,对30例人食管癌中MSI及LOH阳性情况进行研究,术后随访5年,了解预后。结果D3S1067位点MSI发生检出频率较高,为26.7%;D18S58位点MSI阳性率为20%。MSI的发生在食管小细胞癌中较食管鳞癌为高(P>0.05);MSI、LOH与肿瘤的病理分级、PTNM分期、有无区域淋巴结转移和浸润深度无关(P>0.05)。结论食管癌在3p和18q染色体位点均存在微卫星不稳定现象;D3S1067和D18S58二个位点上MSI与食管癌的临床病理类型均相关;研究未发现这两个位点MSI、LOH与食管癌的临床分期、细胞分化程度、癌组织浸润深度和有无区域淋巴结转移等参数相关;3p位点基因的改变在食管鳞癌发生过程中具有较重要意义。
Objective To investigate the relationship between microsatellite DNA sequence instability (MSI) and loss of heterozygosity (LOH) and the occurrence, clinicopathological features and prognosis of human esophageal cancer. Methods Polymerase chain reaction (PCR) and denaturing polyacrylamide gel electrophoresis were used to study the positive cases of MSI and LOH in 30 human esophageal carcinomas. The patients were followed up for 5 years to understand the prognosis. Results The detection frequency of MSI in D3S1067 was 26.7%. The positive rate of MSI in D18S58 was 20%. The incidence of MSI in esophageal small cell carcinoma was higher than that in esophageal squamous cell carcinoma (P> 0.05). MSI and LOH had no correlation with tumor grade, PTNM stage, regional lymph node metastasis and invasion depth (P> 0.05). Conclusion The microsatellite instability of esophageal carcinoma at 3p and 18q loci was observed. The MSI of D3S1067 and D18S58 were correlated with the clinicopathological types of esophageal cancer. No correlation was found between MSI, LOH and esophagus Cancer clinical stage, degree of cell differentiation, depth of cancer invasion and presence of regional lymph node metastasis and other parameters; 3p-site gene changes in the process of esophageal squamous cell carcinoma is more important.