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中国女性PIK3CA突变浸润性乳腺癌的临床病理及预后分析

Clinicopathological and prognostic analysis of PIK3CA mutated invasive breast cancer in Chinese women.

作者信息

Chu Juhang, Huang Luyao, Wang Yaru, Qian Mingping

机构信息

Department of General Surgery, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China; Tongji University School of Medicine, Shanghai, China.

Department of General Surgery, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.

出版信息

Clinics (Sao Paulo). 2025 Jun 4;80:100702. doi: 10.1016/j.clinsp.2025.100702. eCollection 2025.

Abstract

OBJECTIVE

To explore the relationship between PIK3CA mutations and clinicopathological features and prognosis in breast cancer patients.

METHODS

This retrospective cohort study included 283 patients with invasive breast cancer who underwent surgery from June 2017 to June 2022. PIK3CA exon 9 and 20 mutations were detected using PCR and sequencing. Patients were divided into recurrence (n = 47) and non-recurrence (n = 236) groups based on follow-up data to identify postoperative recurrence factors and build a prediction model. Kaplan-Meier analysis was used to evaluate recurrence rates.

RESULTS

PIK3CA mutations were identified in 41% of patients, with exon 20 mutations being the most common (62.1%). Mutations correlated with tumor quadrant, histological subtype, clinical stage, perineural invasion, and high NLR (p < 0.05). Recurrence group patients showed higher BMI, multiple tumors, non-luminal types, advanced clinical stage, lymph node metastasis, and higher NLR (p < 0.05). Multivariate analysis identified high BMI, multiple tumors, lymph node metastasis, advanced clinical stage, and perineural invasion as independent recurrence risk factors (p < 0.05). Notably, no significant difference in disease-free survival was observed between PIK3CA mutant and wild-type patients (p > 0.05).

CONCLUSION

PIK3CA mutations are associated with specific clinicopathological features but do not significantly impact prognosis in breast cancer patients.

摘要

目的

探讨乳腺癌患者PIK3CA突变与临床病理特征及预后之间的关系。

方法

这项回顾性队列研究纳入了2017年6月至2022年6月期间接受手术的283例浸润性乳腺癌患者。采用聚合酶链反应(PCR)和测序检测PIK3CA第9外显子和第20外显子突变。根据随访数据将患者分为复发组(n = 47)和非复发组(n = 236),以确定术后复发因素并建立预测模型。采用Kaplan-Meier分析评估复发率。

结果

41%的患者检测到PIK3CA突变,其中第20外显子突变最为常见(62.1%)。突变与肿瘤象限、组织学亚型、临床分期、神经周围侵犯及高中性粒细胞与淋巴细胞比值(NLR)相关(p < 0.05)。复发组患者的体重指数(BMI)较高、存在多发肿瘤、非腔面型、临床分期较晚、有淋巴结转移且NLR较高(p < 0.05)。多因素分析确定高BMI、多发肿瘤、淋巴结转移、临床分期较晚及神经周围侵犯为独立的复发危险因素(p < 0.05)。值得注意的是,PIK3CA突变型和野生型患者之间的无病生存期无显著差异(p > 0.05)。

结论

PIK3CA突变与特定的临床病理特征相关,但对乳腺癌患者的预后无显著影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3731/12171758/68687d0ab04e/gr1.jpg

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