子宫内膜癌组织中抑癌基因PTEN突变分析

Tumor Suppressor Gene PTEN Mutations in Endometrial Neoplasm

目的 了解子宫内膜癌组织中磷酸酶基因PTEN突变情况及其与临床病理特征的关系。方法 采用聚合酶链反应 单链构象多态性方法 (PCR SSCP)对 70例子宫内膜癌组织进行PTEN基因 9个外显子的突变检测。结果 70例子宫内膜癌组织中PTEN基因突变率为 38.5 7% ( 2 7/70 ) ,突变较多地分布在第 5、7、8号外显子上 ;子宫内膜样癌突变率 ( 4 4.8% )明显高于浆液性和粘液性腺癌 ( 8.3% ) ,P <0 .0 5 ,G 1级、G 2级、G 3级的突变率分别为 5 3.3%、45 .5 %、18.2 % (P <0 .0 5 ) ,Ⅰ期、Ⅱ期、Ⅲ～Ⅳ期的突变率分别为 5 2 .4%、2 8.6 %、14 .3% (P <0 .0 5 ) ,肌层浸润程度越深 ,突变率越低 (P <0 .0 5 )。结论 PTEN基因突变是子宫内膜癌发生的早期事件 ,并与预后良好的临床病理特点相关。

Objective To detect the PTEN gene mutation in endometrial cancer and to analyze the relationship between PTEN mutation and clinical-pathologic characteristics.Methods PTEN mutations in all nine exons were detected by single-strand conformational polymorphism(SSCP) and silver stain in 70 cases of endometrial neoplasm.Results Mutations were noted in 27 of 70(38.6%),and exon 5,7,8 were the most frequently mutated locations.Mutations were seen only in 8.3%(1 of 12) of serous(n=9)and mucinous(n=3) cancers compared with 44.8%(26 of 58) of endometrioid cancer(P<0.05).The percentage of mutation in stage I,stage Ⅱ and Ⅲ/Ⅳ was 52.4%,28.6%,14.3% respectively(P<0.05).The deeper the myometrial invasion was,the lower the mutation rate was(P<0.05).Mutation in Grade 1 and 2 was more common than that in Grade 3(P<0.05).Conclusion PTEN mutation is early event of endometrial cancer,and associated with favorable pathological clinical features.