首页|期刊导航|临床与实验病理学杂志|HR⁺/HER2⁻乳腺癌PIK3CA基因突变与淋巴结转移及转移负荷的相关性分析

HR⁺/HER2⁻乳腺癌PIK3CA基因突变与淋巴结转移及转移负荷的相关性分析OA

Correlation between PIK3CA mutation and lymph node metastasis and metastatic burden in HR+/HER2-breast cancer

中文摘要英文摘要

目的 探讨PIK3CA基因突变状态与HR⁺/HER2⁻浸润性乳腺癌患者淋巴结转移发生及转移负荷之间的关系.方法 回顾性纳入73例 HR⁺/HER2⁻浸润性乳腺癌患者,根据PIK3CA基因检测结果分为突变组(40例)和野生型组(33例),采用EnVision两步法行免疫组化染色,评估HR、HER2及Ki67的表达.比较两组基线临床病理特征、淋巴结转移率及转移负荷差异,并在淋巴结转移阳性(lymph node-positive,LN⁺)患者中进一步分析转移负荷.采用χ²检验、Fisher确切概率法或Mann-Whitney U检验进行组间比较;采用单因素Logistic回归分析评估PIK3CA突变与淋巴结转移的相关性;无瘤生存期(disease-free survival,DFS)采用Kaplan-Meier法及Log-rank检验分析.结果 73 例患者中共检出 PIK3CA 突变 40 例,突变率为 54.8%(40/73).PIK3CA 突变组淋巴结转移率为 75.0%(30/40),高于野生型组的 39.4%(13/33),差异有统计学意义(P=0.005).单因素 Logistic 回归分析显示,PIK3CA 突变与淋巴结转移发生相关(OR=4.62,95%CI:1.74~13.01,P=0.003).在 LN⁺ 人群(n=43)中,PIK3CA突变组转移淋巴结个数:中位数和四分位数[3(1,5)枚 vs.2(1,4)枚]、高负荷转移(≥4枚)比例[43.3%(13/30)vs.30.8%(4/13)]均高于野生型组,但差异均未达到统计学显著性(P=0.225;P=0.439).两组淋巴结转移模式分布差异亦无统计学意义(P=0.542).Kaplan-Meier 生存分析显示,两组 DFS 曲线总体分离不明显(Log-rank P=0.113).结论 PIK3CA 突变与 HR ⁺/HER2 ⁻乳腺癌淋巴结转移的发生相关;在 LN⁺ 患者中,PIK3CA 突变组转移负荷虽呈升高趋势,但差异未达到统计学显著性,仍需更大样本进一步验证.由于随访期内 DFS 终点事件数不足,目前尚无法充分评估 PIK3CA 突变对 DFS 的影响.

Objective To investigate the association between PIK3CA mutation status and the occurrence and burden of lymph node metastasis in patients with HR+/HER2-invasive breast cancer.Methods A total of 73 patients with HR+/HER2-invasive breast cancer were retrospectively enrolled and divided into a mutant group(n=40)and a wild-type group(n=33)according to PIK3CA mutation status.Baseline clinicopathological characteristics,lymph node metastasis rate,and metastatic burden were compared between the two groups.Metastatic burden was further analyzed among patients with lymph node metastasis-positive(LN⁺).Intergroup comparisons were performed using the χ² test,Fisher's exact test,or Mann-Whitney U test,as appropriate.Univariate Logistic regression analysis was used to evaluate the association between PIK3CA mutation and lymph node metastasis.Disease-free survival(DFS)was analyzed using the Kaplan-Meier method and Log-rank test.Results Among the 73 patients,PIK3CA mutations were detected in 40 cases,with a mutation rate of 54.8%(40/73).The lymph node metastasis rate was significantly higher in the PIK3CA mutation group than in the wild-type group[75.0%(30/40)vs.39.4%(13/33),P=0.005].Univari⁃ate Logistic regression analysis showed that PIK3CA mutation was associated with lymph node metastasis(OR=4.62,95%CI:1.74-13.01,P=0.003).Among LN⁺ patients(n=43),the median number of metastatic lymph nodes[3(1,5)vs.2(1,4)]and the proportion of high-burden metastasis(≥4 metastatic lymph nodes)[43.3%(13/30)vs.30.8%(4/13)]were higher in the PIK3CA mutation group than in the wild-type group,but the differences were not statistically significant(P=0.225 and P=0.439,respectively).No significant difference was observed in the distribu⁃tion of lymph node metastatic patterns between the two groups(P=0.542).Kaplan-Meier survival analysis showed no obvious separation of DFS curves between the two groups(Log-rank P=0.113).Conclusion PIK3CA mutation was associated with the occurrence of lymph node metastasis in HR-positive/HER2-negative breast cancer.Among LN⁺ pa⁃tients,the PIK3CA-mutant group showed a trend toward higher metastatic burden,but the differences did not reach statistical significance and require further validation in larger cohorts.Because of the limited number of DFS events during follow-up,the effect of PIK3CA mutation on DFS could not be adequately evaluated in the present study.

王仁庆;叶元滋;史芳晓;郭欠影;付尧;樊祥山

安徽医科大学第一附属医院病理科/安徽医科大学病理中心,合肥 230022安徽医科大学第一附属医院病理科/安徽医科大学病理中心,合肥 230022安徽医科大学第一附属医院病理科/安徽医科大学病理中心,合肥 230022安徽医科大学第一附属医院病理科/安徽医科大学病理中心,合肥 230022安徽医科大学第一附属医院病理科/安徽医科大学病理中心,合肥 230022安徽医科大学第一附属医院病理科/安徽医科大学病理中心,合肥 230022

医药卫生

乳腺肿瘤HR⁺/HER2⁻PIK3CA基因突变淋巴结转移转移负荷

breast neoplasmsHR+/HER2-PIK3CA mutationlymph node metastasismetastatic burden

《临床与实验病理学杂志》 2026 (9)

1121-1126,6

国家自然科学基金(82403587) National Natural Science Foundation of China(82403587)

10.13315/j.cnki.cjcep.2026.09.001

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