目的：检测乳腺癌组织磷脂酰肌醇‐3‐激酶催化亚单位α（PIK3CA）基因突变状态，并分析突变与临床病理特征的关系。方法选取176例原发性乳腺癌患者石蜡组织标本，提取组织DNA ，对外显子9及20进行探针扩增阻滞突变系统聚合酶链反应（ARMS‐PCR）扩增，检测PIK3CA基因的突变状态，另取20例乳腺腺病组织标本作为阴性对照。结果176例乳腺癌组织中发现突变45例，突变率25．6％，其中以20号外显子 H1047R突变率为主，突变率26．7％（12／45）；PIK3CA 基因突变在ER阳性和阴性、PR阳性和阴性患者中差异有统计学意义（P＜0．05），但在 HER2阳性和阴性患者中差异无统计学意义（P＞0．05）；PIK3CA基因突变与乳腺癌患者肿瘤大小、年龄、淋巴结状态之间无明显相关性，但与组织学分级有相关性。结论 PIK3CA基因突变与乳腺癌激素受体表达和肿瘤进展相关，PIK3CA 基因突变检测对指导临床制订个体化治疗有重要意义。%Objective To detect the mutation status of PIK3CA genes in breast cancer and to analyze its relation with clinico‐pathological characteristics .Methods The paraffin tissue samples in 176 cases of breast cancer were selected and the tissue DNA was extracted ,exon9 and exon20 were amplified by ARMS‐PCR .The mutation status of PIK3CA genes were detected ,other tissue samples in 20 cases of mammary gland disease were taken as the negative control .Results Among 176 samples of breast cancer tis‐sues ,45 cases of mutation were found with the mutation rate of 25 .6% ,which was dominated by H1047R mutation rate of exon20 with the mutation rate of 26 .7% (12/45);There were statistical difference between ER (+ ) and ER(-) and between PR(+ ) and PR(-) ,but no statistical difference was found between HER (+ ) and HER(-);PIK3CA gene mutation had correlation with cancer histological grade ,but no obvious correlation with tumor size ,age and lymph node status .Conclusion PIK3CA gene muta‐tion is correlated with breast cancer hormone receptor (HR) expression and tumor progression ;the PIK3CA gene mutation detection has an important significance for guiding the formulation of clinical indiidualized treatment .
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