卵巢子宫内膜异位症恶变过程中PTEN突变及微卫星不稳定的作用  

Changes of tumor suppressor gene PTEN and microsatellite instability in the malignant transformation of endometriosis and their correlations

作　　者：徐万里[1] 戴淑真[1] 王培林[2] 姚勤[1] 赵新蕊[2] 李茜[1] 

机构地区：[1]青岛大学医学院附属医院妇产科,山东青岛266003 [2]青岛大学医学院生物学教研室,山东青岛266000

出　　处：《现代生物医学进展》2009年第22期4346-4349,共4页Progress in Modern Biomedicine

基　　金：山东省科技发展计划(2006GG2202027)

摘　　要：目的:探讨卵巢子宫内膜异位症恶变过程中PTEN突变及微卫星不稳定的作用。方法:选取子宫内膜异位症相关性卵巢癌(endometriosis associated ovarian cancer,EAOC)26例、不典型子宫内膜异位症(atypical endometriosis,aEMs)7例、典型子宫内膜异位症(endometriosis,EMT)25例,应用PCR结合单链构象多态性(PCR-SSCP)技术及ABI测序系统对各组中PTEN基因第5和第8外显子突变情况检测,应用PCR-SSCP银染方法对5个微卫星监测点Bat25、Bat26、D2S123、D5S346及D17S250的微卫星不稳定(MSI)进行检测分析。结果:EAOC组、aEMs组及EMT组中PTEN的突变率分别为30.76%,14.29%及8%;MSI发生率分别为46.15%,28.67%及0。EAOC组中PTEN基因突变率和MSI发生率均明显高于aEMs和EMT组(P<0.05),并且EAOC组中PTEN突变率与MSI发生率呈正相关。(r=0.409,P<0.05)。结论:PTEN突变及MSI可能参与了子宫内膜异位症的恶变过程。Objective：To investigate the mutation of PTEN and microsatellite instability in the malignant transformation of endometriosis. Methods： 26 cases of endometriosis associated ovarian cancers （EAOC）, 7 cases of atypical hyperplasia endometriosis of ovary and 25 cases of typical endometriosis tissues were collected from Qingdao University affiliated Hospital and Qingdao Municipal Hospital. PCR-SSCP silver staining was used to analyze microsatellite instability. PTEN mutations were detected by PCR-SSCP and ABI sequencing. Result： The percentages of PTEN mutation in EAOC, aEMs and EMT were 30.76%,14.29% and 8% separately, meanwhile, the incidence rate of MSI were 46.15%,28.67% and 0%. In EAOC cases, the mutation rate of PTEN and the incidence of MSI are significantly higher than those in aEMS cases and those in EMT cases, and interestingly, PTEN-mutaion rate could be proportionate to MSI incidence. Conclusion： Mutation of PTEN gene and Microsatellite Instability are highly associated with the malignant transformation of endometriosis.

关 键 词：不典型子宫内膜异位症 子宫内膜异位症相关性卵巢癌 PTEN 微卫星不稳定 

分 类 号：R737.31[医药卫生—肿瘤]