乳腺癌PIK3CA基因热点突变的研究  

Mutational hotspots of PIK3CA gene in breast cancer tissues

作　　者：陈营[1] 朱旬[1] 肖莉[1] 李凯[1] 邢春根[1] 邹汉青[1] 

机构地区：[1]苏州大学附属第二医院普外科西九病区,江苏苏州215004

出　　处：《中华肿瘤防治杂志》2013年第7期505-508,共4页Chinese Journal of Cancer Prevention and Treatment

基　　金：国家高技术研究发展863计划(2008AA02Z436);江苏省卫生厅科研资助项目(H200817);苏州市社会发展科技计划项目(SS08014)

摘　　要：目的:采用突变敏感性分子开关技术,检测乳腺癌组织中PIK3CA基因热点突变的突变频率,并分析乳腺癌PIK3CA基因热点突变与乳腺癌临床病理特征之间的关系。方法:用突变敏感性分子开关技术对90例乳腺癌组织和10例乳腺纤维腺瘤组织DNA进行检测,并利用基因测序进一步验证。结果:在90例乳腺癌患者中检测出18例PIK3CA基因热点突变(突变率20%,18/90),包含A3140G突变14例(突变率15.6%,14/90)、G1633A突变3例(突变率3.3%,3/90)、G1624A突变2例(突变率2.2%,2/90),其中1例患者同时发生A3140G和G1624A突变。10例乳腺纤维腺瘤中未发现以上热点突变。PIK3CA基因突变与HER-2表达有关(χ2=4.119,P=0.048),过表达者中PIK3CA基因突变率低,而与年龄分布(χ2=0.238,P=0.602)、肿瘤大小(P=1.000)、淋巴结状态(χ2=3.689,P=0.056)及ER(χ2=0.957,P=0.328)、PR(χ2=0.012,P=0.914)和EGFR(χ2=0.011,P=0.916)是否表达无相关性。结论:PIK3CA基因热点突变与患者的HER-2过表达呈负相关。OBJECTIVE：To investigate the mutational hotspots of PIK3CA gene in breast cancer,and analysis the relationship between the PIK3CA mutation and the pathological features of breast cancer. METHODS： PCR amplifications mediated by high-fidelity DNA polymerase were done after extracting DNA from 90 samples of breast cancer,followed by sequence for further verification. Another 10 samples of breast fibroadenoma were chosen as controls. RESULTS： Eighteen （20 %, 18/90） PIK3CA gene mutations were found in these 90 cases of breast cancer, which contained 14 cases of A3140G mutation （15.6%,14/90）,3 cases of G1633A mutation （3.3%,3/90） and 2 cases of G1624A mutation found additionally （2.2 %, 2/90）. One breast cancer patient possessed two distinct PIK3CA mutations （A3140G and G1624A）. The mutation of PIK3CA gene significantly associated with the HER-2 expression （yz =4. 119,P=0. 048） ,there was the lower rate of PIK3CA gene mutation in the HER-2 overexpression samples,but it had no significant correlation with the age （X2= 0. 238,P=0. 602） ,tumor size （P= 1. 000）,lymph node status （X2 =3. 689,P=0. 056） ,ER/PR status （X2 =0. 957,P=0. 328;X2 =0. 012,P=0. 914） and EGFR expression （X.2 =0. 011,P=0. 916）. No mutation was found in the breast fibro- adenoma. CONCLUSION： It is negative correlation between the mutational hotspots of PIK3CA gene and HER-2 overexpression.

关 键 词：乳腺肿瘤 PIK3CA 基因突变 分子开关 

分 类 号：R737.9[医药卫生—肿瘤]