初诊乳腺癌PIK3CA突变与乳腺癌临床病理特征的相关性及其对预后的影响  

Correlation between PIK3CA mutation and clinicopathological characteristics and its effect on the prognosis in newly diagnosed breast cancer

作　　者：王淑慧 周雅卿 赵永林 贾丽君[1] 何蕊[1] 韦巍 管海涛[1] WANG Shuhui;ZHOU Yaqing;ZHAO Yonglin;JIA Lijun;HE Rui;WEI Wei;GUAN Haitao(Oncology Department,the Second Affiliated Hospital of Xi'an Jiaotong University,Xi'an 710004,China)

机构地区：[1]西安交通大学第二附属医院肿瘤病院,陕西西安710004

出　　处：《临床医学研究与实践》2023年第2期1-6,16,共7页Clinical Research and Practice

基　　金：陕西省重点研发计划项目(No.2017SF-078)。

摘　　要：目的 探讨初诊乳腺癌中PIK3CA的突变状况,并分析其与临床病理特征的相关性和对预后的影响。方法 回顾性分析2019年9月至2022年1月本医疗小组诊治的、临床病理和随访资料完整的139例初诊乳腺癌患者石蜡标本中PIK3CA突变状况,并分析PIK3CA突变与乳腺癌临床病理特征的相关性和对预后的影响。结果 在139例初诊乳腺癌中,共检测出40例PIK3CA突变,突变率为28.78%。其中单突变28例(70.00%),双突变12例(30.00%)。单突变最常见的突变为H1047R突变,占全部突变的37.50%,最常见的双突变为H1047R+H1047L双突变,占全部突变的12.50%。PIK3CA突变与乳腺癌患者的月经状况、肿瘤T分期、N分期、病理类型及人表皮生长因子-2(HER-2)、Ki-67表达状况无关(P>0.05)。PIK3CA突变与乳腺癌组织学分级显著相关(P<0.05);组织学Ⅰ级乳腺癌患者的PIK3CA突变率显著高于组织学Ⅱ、Ⅲ级以及组织学分级缺失或不明乳腺癌患者(P<0.05)。PIK3CA突变与乳腺癌HR表达状况显著相关,HR阳性乳腺癌患者的PIK3CA突变率显著高于HR阴性乳腺癌患者的突变率(P<0.05)。Kaplan-Meier生存分析显示,在总人群中,PIK3CA突变对乳腺癌患者的无事件生存期(EFS)、总生存期(OS)没有影响(P>0.05);亚组分析中,在HR阴性(HER-2阴性或阳性)乳腺癌患者中,PIK3CA无突变患者的EFS和OS均显著优于PIK3CA突变患者(P<0.05);在HR阳性(HER-2阴性或阳性)乳腺癌患者中,PIK3CA有无突变对患者的EFS、OS均无影响(P>0.05)。结论 初诊乳腺癌患者中PIK3CA突变率为28.78%,PIK3CA突变与乳腺癌的组织学分级和HR表达状况相关。在HR阴性(HER-2阴性或阳性)乳腺癌患者中,PIK3CA无突变患者的EFS、OS均显著优于PIK3CA突变患者。初诊乳腺癌患者中,PIK3CA突变与乳腺癌临床病理特征的相关性和对预后的影响,以及对临床治疗决策的影响仍需进一步深入的研究。Objective To investigate the PIK3CA mutation in newly diagnosed breast cancer, and analyze its correlation with clinicopathological characteristics and its effect on prognosis. Methods The status of PIK3CA mutation in paraffin samples of 139 newly diagnosed breast cancer patients with complete clinicopathological and follow-up data who were diagnosed and treated by our medical team from September 2019 to January 2022 was retrospectively analyzed, and the correlation between PIK3CA mutation and clinicopathological characteristics of breast cancer and its effect on prognosis were analyzed. Results In 139 cases of newly diagnosed breast cancer, 40 cases of PIK3CA mutation were detected, with a mutation rate of 28.78%. Among them, 28 cases were single mutation(70.00%) and 12 cases were double mutation(30.00%). The most common single mutation was H1047R mutation, accounting for 37.50% of all mutations, and the most common double mutation was H1047R and H1047L double mutation, accounting for 12.50% of all mutations. PIK3CA mutation was not associated to the menstrual status, T and N stages of tumor, pathological type, and human epidermal growth factor receptor-2(HER-2) and Ki-67 expression in breast cancer patients(P >0.05). PIK3CA mutation was significantly correlated with histological grade of breast cancer(P <0.05);the mutation rate of PIK3CA in breast cancer patients with histology grade I was significantly higher than that in breast cancer patients with histology grade Ⅱ, Ⅲand histology grade loss or unknown(P<0.05). PIK3CA mutation was significantly related to HR expression in breast cancer,and the mutation rate of PIK3CA in HR positive breast cancer patients was significantly higher than that in HR negative breast cancer patients(P<0.05). Kaplan-Meier survival analysis showed that PIK3CA mutation had no effect on event free survival(EFS) and overall survival(OS) of breast cancer patients in the general population(P>0.05);in subgroup analysis,in HR negative(HER-2 negative or positive) breast cancer patients,

关 键 词：乳腺癌 PIK3CA突变 临床病理特征 预后 

分 类 号：R737.9[医药卫生—肿瘤]