子宫内膜癌及癌前病变PTEN基因突变的检测

Detection of PTEN mutation in endometrial carcinoma and precancerous lesion

目的探讨PTEN基因在子宫内膜癌组织及子宫内膜增生组织、正常子宫内膜组织中的基因突变及其在子宫内膜癌发生中的作用。方法应用聚合酶链反应—单链构象多态性分析检测42例子宫内膜癌组织、27例子宫内膜不典型增生组织、24例子宫内膜复杂性增生、27例子宫内膜单纯性增生及11例正常子宫内膜组织中PTEN基因第5外显子和第8外显子的突变,并结合临床病理特征进行分析。结果子宫内膜癌组织中的PTEN基因突变率为33.3%,高于其它各组(χ2=14.475,P=0.006)。子宫内膜癌不同组织学类型、组织学分级、手术病理分期及肌层浸润深度与PTEN基因突变无显著性差异。子宫内膜单纯性增生、复杂性增生、不典型增生PTEN基因突变率有上升趋势,但无显著性差异。结论PTEN基因突变可发生在子宫内膜癌及子宫内膜增生组织中,但在子宫内膜癌中突变率明显高于子宫内膜增生,在子宫内膜增生组织中,PTEN基因突变随着增生严重程度的增加有增高趋势。

Objective To investigate mutation in gene of phosphate and tension homology deleted on chromosome ten （PTEN） in endometrial carcinoma tissues, hyperplastic endometria and normal endometria and its role in development of endometrial carcinoma. Methods In polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP） method, mutations in exon 5 and exon 8 of PTEN gene in 43 endometrial carcinoma samples, 27 endometrial atypical hyperplasia samples, 24 endometrial complex hyperplasia samples, 27 endometrial simple hyperplasia samples and 11 normal endometrium samples were detected. Combining clinical pathological features, the detection results were analyzed. Results In endometrial carcinoma tissues, the mutation rate of PTEN was 33.3%, which was significantly higher than that both in hyperplastic endometria and normal endometria （χ^2= 14.475, P = 0. 006）. The mutation rate of PTEN was not associated with different histological types, grade, FIGO stage and depth of myometrial invasion. Although there was an increasing tendency in rate of PTEN mutation in simple hyperplasia, complex hyperplasia, atypical hyperplasia, no significant differences were found. Conclusion PTEN mutation can be seen both in endometrial carcinoma and hyperplastic endometria, but the mutation rate of PTEN is higher in endometrial carcinoma than that in hyperplastic endometria. In hyperplastic endometrial tissues, the mutation rate of PTEN increases with severity of endometrial hyperplasia.