PIK3CA基因突变与晚期乳腺癌患者临床病理特征的相关性及对预后的影响  

Correlation between PIK3CA Gene Mutation and Clinicopathological Features of Patients with Advanced Breast Cancer and the Influence of PIK3CA Gene Mutation on Prognosis

作　　者：李新宇 闫敏[2] 李烦繁[2] Li Xinyu;Yan Min;Li Fanfan(Postgraduate School,Anhui Medical University,Hefei 230061,Anhui,China;Department of Oncology,the Second Hospital of Anhui Medical University,Hefei 23006l,Anhui,China)

机构地区：[1]安徽医科大学研究生院,合肥230061 [2]安徽医科大学第二附属医院肿瘤科,合肥230061

出　　处：《肿瘤预防与治疗》2025年第1期11-17,共7页Journal of Cancer Control And Treatment

基　　金：安徽省重点研究与开发计划(编号:2022e07020038)。

摘　　要：目的:研究晚期乳腺癌中PIK3CA基因的突变情况,并分析其与患者临床病理特征的相关性,探索PIK3CA基因突变对晚期乳腺癌预后的影响。方法:回顾性收集安徽医科大学第二附属医院2018年3月至2024年1月的晚期乳腺癌病例,检测PIK3CA基因在晚期乳腺癌中的突变情况,分析PIK3CA基因突变与患者临床病理特征的相关性和其对预后的影响。结果:在42例晚期乳腺癌病例中,共检测出18例PIK3CA基因突变,突变率为42.86%。其中最常见的突变为H1047R突变,占全部突变的50.00%,其次是E545K突变,占全部突变的44.44%。PIK3CA基因突变与晚期乳腺癌患者的年龄、分期、分化、人表皮生长因子受体-2状态、淋巴结转移数目、检测标本无关(P>0.05)。PIK3CA基因突变与晚期乳腺癌雌激素受体(estrogen receptor, ER)状态显著相关,ER阳性乳腺癌患者PIK3CA突变率显著高于ER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突变对晚期乳腺癌患者的无疾病生存期(disease-free survival, DFS)没有影响(P>0.05)。结论:晚期乳腺癌患者中PIK3CA突变率为42.86%,PIK3CA突变与ER表达状态相关。PIK3CA突变对晚期乳腺癌患者DFS没有影响。晚期乳腺癌PIK3CA突变与患者临床病理特征的相关性和对预后疗效的影响仍需进一步研究。Objective:To investigate the mutation status of PIK3CA gene in advanced breast cancer,analyze its correlation to patients'clinicopathological characteristics,and explore its impact on the prognosis of advanced breast cancer patients.Methods:Advanced breast cancer cases from the Second Hospital of Anhui Medical University between March 2018 and January 2024 were retrospectively collected.The mutation of PIK3CA gene in these cases was detected,and the correlation betweenPIK3CA gene mutation and patients'clinicopathological features as well as the influence of PIK3CA gene mutation on prognosis were analyzed.Results:Among 42 cases of advanced breast cancer,18 cases of PIK3CA gene mutation were detected,with a mutation rate of 42.9%.The most common mutation was H1047R,accounting for 50%of all mutations,followed by E545K mutation,which accounted for 44.4%.PIK3CA mutation was not associated with the age,stage,differentiation,human epidermal growth factor receptor-2 status,number of metastatic lymph nodes or specimens of breast cancer patients(P>0.05).However,it was significantly correlated to the estrogen receptor(ER)status of breast cancer.The mutation rate of PIK3CA in ER-positive breast cancer patients was significantly higher than that in ER-negative patients(P<0.05).Kaplan-Meier survival analysis revealed that PIK3CA mutation had no effect on disease-free survival(DFS)of breast cancer patients in the total population(P>0.05).Conclusion:The mutation rate of PIK3CA in advanced breast cancer patients is 42.9%.PIK3CA mutation is related to ER expression status,but has no impact on DFS.The correlation between PIK3CA mutation and clinicopathological characteristics of advanced breast cancer patients and the effect of PIK3CA gene mutation on prognosis and treatment efficacy still require further research.

关 键 词：晚期乳腺癌 PIK3CA基因突变 临床病理特征 ER状态 DFS 

分 类 号：R737.9[医药卫生—肿瘤]