基础医学与临床 ›› 2024, Vol. 44 ›› Issue (3): 303-307.doi: 10.16352/j.issn.1001-6325.2024.03.0303

• 研究论文 • 上一篇    下一篇

PIK3CA突变与乳腺癌临床病理特征及预后的相关性

依合里曼·买买提, 曹燕珍, 王翠翠, 岳娜, 梁莉萍*   

  1. 新疆医科大学附属肿瘤医院 病理科,新疆 乌鲁木齐 830011
  • 收稿日期:2023-08-25 修回日期:2023-11-30 出版日期:2024-03-05 发布日期:2024-02-22
  • 通讯作者: *:LLP2317@163.com
  • 基金资助:
    新疆自治区自然科学基金(2020D01C201)

Correlation between PIK3CA mutation and clinicopathological features and prognosis of breast cancer

Yiheliman·MAIMAITI, CAO Yanzhen, WANG Cuicui, YUE Na, LIANG Liping*   

  1. Department of Pathology, Xinjiang Medical University Affiliated Tumor Hospital, Urumqi 830011, China
  • Received:2023-08-25 Revised:2023-11-30 Online:2024-03-05 Published:2024-02-22
  • Contact: *:LLP2317@163.com

摘要: 目的 探讨乳腺癌标本中磷脂酰肌醇激酶-3-催化亚基α(PIK3CA)突变与侵袭性乳腺癌临床病理特征及预后的相关性。方法 收集2018年1月至2020年1月确诊为乳腺癌的181例患者临床病理资料,用免疫组织化学(IHC)法检测乳腺癌雌激素受体(ER)、孕激素受体(PR)、人表皮生长因子受体2(HER2)、Ki-67等指标,RT-qPCR检测乳腺癌中PIK3CA外显子9(exon9)和外显子20(exon20)的突变。结果 181例侵袭性乳腺癌中PIK3CA突变70例,其中31例(44.28%)exon9突变、39例(55.71%)exon20突变。PIK3CA突变与乳腺癌分子分型有明显差异(P<0.05)。PIK3CA突变与乳腺癌的Ki67表达有明显差异(P<0.05)。34例(48.57%)HR+/HER2-PIK3CA突变,36例(51.43%)非HR+/HER2-组突变,二者PIK3CA突变分布有明显差异(P<0.05)。PIK3CA突变患者病死率高于PIK3CA野生型(P<0.05)。结论 PIK3CA突变与乳腺癌分子分型、Ki67 增值指数及预后相关,可为患者精准治疗提供参考。

关键词: 乳腺癌, 磷脂酰肌醇激酶-3-催化亚基α(PIK3CA), 雌激素受体, 孕激素受体, 人表皮生长因子受体2

Abstract: Objective To find the correlation between phosphatidylinositol kinase-3 catalytic subunit A gene (PIK3CA) mutation and pathological features as well as clinical prognosis of breast cancer. Methods The pathological data of 181 patients diagnosed with invasive breast cancer from January 2018 to January 2020 were collected. The estrogen receptor(ER), progestogen receptor(PR), human epidermal growth factor receptor-2(HER2), Ki67 were examined by immuno-histochemistry(IHC).Mutation of exon 9 and exon 20 of PIK3CA were examined by quantitative real-time PCR(qPCR). Results Among 181 cases of invasive breast cancer, 70 cases had PIK3CA mutation with 31 cases (44.28%) showed exon 9 mutations and 39 cases (55.71%) showed exon 20 mutations. The difference between PIK3CA mutation and their distribution in molecular typing of breast cancer was statistically significant(P<0.05). The expression of PIK3CA mutation in breast cancer with different Ki67 expression was significantly different(P<0.05). There were 34 cases (48.57%) showed PIK3CA mutations in the HR+/HER2 group and 36 cases (51.43%) of non HR+/HER2 group mutations. There was a statistically significant difference in the distribution of PIK3CA mutations between 2 groups(P<0.05). The death rate of PIK3CA mutation cases was higher than that of PIK3CA wild type cases (P<0.05). Conclusions PIK3CA mutation is associated with molecular typing, Ki67 increment index and prognosis of breast cancer. Detection of PIK3CA mutation provides potential support to the development of precise treatment of breast cancer patients.

Key words: breast cancer, phosphatidylinositol kinase-3-catalytic subunit(PIK3CA), estrogen receptor, progestogen receptor, human epidermal growth factor receptor 2

中图分类号: