宫颈腺癌和腺上皮内肿瘤组织中PTEN基因的突变和蛋白表达

Mutation and protein expression of PTEN gene in cervical adenocarcinoma and glandular intraepithelial neoplasia

目的探讨PTEN基因的突变和表达在宫颈腺癌发生中的作用。方法应用免疫组织化学sP法检测42例宫颈腺癌、20例宫颈腺上皮内肿瘤和28例正常宫颈组织中PTEN蛋白表达，并采用聚合酶链反应．单链构象多态性（PCR—SSCP）法检测上述组织中PTEN基因第5、8外显子突变情况。结果宫颈腺癌、宫颈腺上皮内肿瘤和正常宫颈腺上皮组织中PTEN蛋白的阳性表达率分别为54．8％（23／42）、25．0％（5／20）和100％（28／28），其差异均有统计学意义（P〈0．05）；黏液型和子宫内膜型宫颈腺癌组织中PTEN蛋白阳性表达率分别为9／19和2／10，其他组织学变型PTEN蛋白阳性表达率92．3％（12／13）。宫颈腺癌、宫颈腺上皮内肿瘤和正常宫颈组织中PTEN基因第5、8外显子的突变率分别为19．0％（8／42）、45．O％（9／20）和0，其差异均有统计学意义（x^2=4．29，X^2=12．70；均P〈0．05）；黏液型和子宫内膜型宫颈腺癌PTEN基因第5、8外显子的突变率分别为4／19和4／10，其他组织学变型未检测到突变。结论宫颈腺癌的发生与PTEN基因的突变和蛋白表达产物缺失有关，PTEN基因的突变和蛋白表达产物缺失可能是宫颈腺癌发生中的早期事件。

Objective To investigate PTEN expression and mutation status in the development of cervical adenocarcinoma. Methods Immunohistochemistry study of PTEN protein was performed on 42 cases of cervical adenocarcinoma, 20 cases of cervical glandular intraepithelial neoplasia and 28 cases of normal cervix tissue samples. Polymerase chain reaction-single strand conformation polymorphism （PCRSSCP） was used to detect the presence of mutation of exons 5 and 8 of PTEN gene. Results Positive expression rates of VFEN protein were 54. 8% （23/42）, 25.0% （5/20） and 100% （28/28） in cervical adenocarcinoma, cervical glandular intraepithelial neoplasia and normal cervix tissues, respectively. There were significant differences among the 3 groups （ P 〈 0. 05 ）. Positive expression rates of PTEN protein were 47.4% （9/19）, 20. 0% （2/10） and 92. 3% （ 12/13 ） in mucinous, endometrioid and the other variants of cervical ade , respectively. Mutation rates at exon 5 and exon 8 of PTEN gene were 19. 0% （8/42） ,45.0% （9/20） and 0 in cervical ad , cervical glandular intraepithelial neoplasia and normal cervix tissue, respectively. There were significant differences among 3 groups （X^2 = 4. 29, X^2 = 12. 70;P 〈 0. 05）. The mutation rates were 21.1% （4/19） and 40. 0% （4/10） in mucinous and endometrioid variants of cervical adenocarcinoma, respectively. There was no mutation at exons 5 and 8 of PTEN gene detected in other variants of cervical adenocarcinoma. Conclusion The development of cervical adenocarcionomas is correlated with the mutation and absence of the protein expression of PTEN, likely in the early phase of their carcinogenesis.