子宫内膜癌及其癌前病变组织中PTEN基因突变的研究

目的:研究抑癌基因PTEN在子宫内膜癌及其癌前病变组织中的突变,并探讨其与子宫内膜癌发生发展的关系。方法:应用聚合酶链反应-单链构象多态性分析(PCR-SSCP)方法检测60例子宫内膜癌、32例子宫内膜癌前病变(复杂型增生12例和不典型增生20例)和20例正常子宫内膜癌组织中PTEN基因的突变情况。结果:子宫内膜癌、子宫内膜癌前病变和正常子宫内膜组织中PTEN基因的突变率分别为36·67%(22/60)、9·38%(3/32)和0(0/20),三者之间差异有统计学意义,P<0·05。统计分析表明PTEN基因突变与子宫内膜癌的组织学分级、组织病理类型和肌层浸润深度有关,P<0·05。子宫内膜癌组织中,PTEN基因突变率在G1~G2级、浅肌层浸润分别高于G3级、深肌层浸润的子宫内膜癌。结论:PTEN基因突变主要发生在组织学分化好、肌层浸润浅的子宫内膜癌中。PTEN基因突变可能是子宫内膜癌发生过程中的早期分子事件。

Study on PTEN gene mutation in endometrial carcinoma and precancerous lension

OBJECTIVE:To study the mutation frequency of PTEN gene in endometrial carcinoma and precancerous lension, and investigate the relationship between the gene mutation and the genesis and development of endometrial carcinoma. METHODS: Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method was used to detect the mutation of PTEN gene in 60 endometrial carcinoma tissues, 32 precancerous lension tissues and 20 corresponding normal tissues. RESULTS: The mutation rate of PTEN gene wans 36.67%(22/60) in endometrial carcinoma tissues, 9.38%(3/32) in precancerous lension tissues,and none in normal tissues. There was a significant difference among the three groups, P<0.05. Statistical analysis showed that histological grade type and depth of myometrial invasion had significant relation with PTEN gene mutation, P<0.05.CONCLUSION: The PTEN gene mutation may be an early molecular event in the genesis of endometrial carcinomas.