摘要
目的研究乳腺癌中磷脂酰肌醇-3-激酶催化亚单位α(PIK3CA)基因突变与人表皮生长因子受体2(human epidermal growth factor receptor 2,HER-2)蛋白表达和基因扩增之间的关系,探讨PIK3CA及HER-2在乳腺癌发生、发展中的作用。方法收集128例乳腺浸润性导管癌患者为研究对象,运用免疫组织化学染色方法检测HER-2蛋白的表达,对HER-2检测结果为2+及3+的病例进一步行荧光原位杂交(fluorescence in situ hybridization,FISH)检测以明确HER-2基因状态,运用RT-PCR检测PIK3CA基因突变状况。统计并分析患者的PIK3CA基因突变与HER-2蛋白及基因扩增的关系。结果128例乳腺癌中有47例检测到了PIK3CA基因突变,突变率为35.9%,其中第9号外显子突变有15例(31.9%),第20号外显子突变有32例(68.1%),PIK3CA基因突变与临床分期组间有相关性(P<0.05)。有HER-2基因扩增的乳腺癌PIK3CA基因突变率与无HER-2基因扩增的乳腺癌PIK3CA基因突变差异无统计学意义(P>0.05)。HER-2基因扩增组中PIK3CA基因突变与组织学分级有相关性(P<0.05),与雌激素受体(ER)的表达有相关性(P<0.05);HER-2未扩增组中PIK3CA基因突变与淋巴结转移有关(P<0.05)。结论PIK3CA基因突变与临床分期具有相关性,HER-2过表达的患者中PIK3CA基因突变可能与肿瘤分化具有相关性。
ObjectiveTo investigate the relationship between PIK3CA gene mutation and HER2 gene amplification and protein expression in breast cancer,and to investigate the interaction between PIK3CA and HER-2 in the development of breast cancer.MethodsThe expression of HER-2 was detected by immunohistochemistry and fluorescent in situ hybridization(FISH)in 128 cases of infiltrative ductal carcinoma of breast,and the amplification state of HER-2 gene was determined by FISH.The correlation between PIK3CA gene mutation and HER-2 gene amplification was also analyzed.ResultsThe PIK3CA gene mutation was detected in 47 of 128 cases of breast cancer,and the mutation rate was 35.9%.There were 15 cases(31.9%)of exon 9 mutations and 32 cases(68.1%)of exon 20 mutations.The PIK3CA gene mutation was significantly associated with clinical stage(P<0.05).No statistically significant association can be found between the mutation rate of PIK3CA gene in breast cancer with HER-2 gene amplification and PIK3CA gene mutation in breast cancer without HER-2 gene amplification(P>0.05).However,there was a significant correlation between PIK3CA gene mutation and histological grade in the HER-2 gene amplification group(P<0.05);PIK3CA gene mutation cannot be found in the HER-2 gene amplification group,which was significantly associated with Lymph node metastasis(P<0.05).ConclusionPIK3CA gene mutation was found to be significantly associated with clinical stage.PIK3CA gene mutation may be related to tumor differentiation in patients with HER-2 overexpression.
作者
王翠翠
曹燕珍
梁莉萍
胡佳捷
李鸿涛
WANG Cuicui;CAO Yanzhen;LIANG Liping;HU Jiajie;LI Hongtao(Department of Pathology,The Affiliated Tumor Hospital of Xinjiang Medical University,Urumqi 830011,China;Department of Breast and Neck surgery,The Affiliated Tumor Hospital of Xinjiang Medical University,Urumqi 830011,China)
出处
《新疆医科大学学报》
CAS
2019年第12期1569-1573,共5页
Journal of Xinjiang Medical University
基金
新疆医科大学科研创新基金项目(XYDCX201660)
