Analysis of PIK3CA mutations in the primary and recurrent tumors of hormone receptor positive/human epidermal growth factor receptor 2 negative breast cancer.

IF 1.9 4区 医学 Q3 ONCOLOGY
Yue Wang, Xin Li, Shuang Zhang, Li Liang, Ling Xu, Yinhua Liu, Ting Li
{"title":"Analysis of PIK3CA mutations in the primary and recurrent tumors of hormone receptor positive/human epidermal growth factor receptor 2 negative breast cancer.","authors":"Yue Wang, Xin Li, Shuang Zhang, Li Liang, Ling Xu, Yinhua Liu, Ting Li","doi":"10.1093/jjco/hyae072","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>Our aim was to compare the PIK3CA mutation status in matched primary and recurrent tumors of hormone receptor positive/human epidermal growth factor receptor 2 negative (HR+/HER2-) breast cancer (BC) to gain insight into the optimization of patient selection and detection time for PIK3CA-targeted therapy.</p><p><strong>Methods: </strong>The data were from 3035 patients with BC diagnosed at the Breast Disease Center, Peking University First Hospital, between January 2008 and December 2017. Matched primary and recurrent samples were profiled using amplification-refractory mutation system-polymerase chain reaction covering 11 mutational hotspots in PIK3CA.</p><p><strong>Results: </strong>PIK3CA mutations were detected in 54.3% primary tumors and 48.6% corresponding recurrences. PIK3CA mutation was detected in 37.5% cases in the locoregional recurrent group and 40.0% of distant metastasis, without a statistical difference. Besides, PIK3CA mutations were concordant in 88.6% of the matched pairs. For patients treated with neoadjuvant chemotherapy, 100% concordance was observed. However, PIK3CA mutation was neither correlated with clinicopathological features nor associated with clinical outcomes.</p><p><strong>Conclusions: </strong>Mutations in PIK3CA in HR+/HER2- BC generally progressed to recurrent tumors. The high concordance rate of PIK3CA mutation status between primary tumors and corresponding recurrences suggests that the detection of primary tumors could be a substitute approach when recurrent samples are not easily obtainable.</p>","PeriodicalId":14656,"journal":{"name":"Japanese journal of clinical oncology","volume":null,"pages":null},"PeriodicalIF":1.9000,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Japanese journal of clinical oncology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/jjco/hyae072","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ONCOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Objective: Our aim was to compare the PIK3CA mutation status in matched primary and recurrent tumors of hormone receptor positive/human epidermal growth factor receptor 2 negative (HR+/HER2-) breast cancer (BC) to gain insight into the optimization of patient selection and detection time for PIK3CA-targeted therapy.

Methods: The data were from 3035 patients with BC diagnosed at the Breast Disease Center, Peking University First Hospital, between January 2008 and December 2017. Matched primary and recurrent samples were profiled using amplification-refractory mutation system-polymerase chain reaction covering 11 mutational hotspots in PIK3CA.

Results: PIK3CA mutations were detected in 54.3% primary tumors and 48.6% corresponding recurrences. PIK3CA mutation was detected in 37.5% cases in the locoregional recurrent group and 40.0% of distant metastasis, without a statistical difference. Besides, PIK3CA mutations were concordant in 88.6% of the matched pairs. For patients treated with neoadjuvant chemotherapy, 100% concordance was observed. However, PIK3CA mutation was neither correlated with clinicopathological features nor associated with clinical outcomes.

Conclusions: Mutations in PIK3CA in HR+/HER2- BC generally progressed to recurrent tumors. The high concordance rate of PIK3CA mutation status between primary tumors and corresponding recurrences suggests that the detection of primary tumors could be a substitute approach when recurrent samples are not easily obtainable.

激素受体阳性/人类表皮生长因子受体 2 阴性乳腺癌原发性和复发性肿瘤中 PIK3CA 基因突变的分析。
目的我们的目的是比较激素受体阳性/人表皮生长因子受体2阴性(HR+/HER2-)乳腺癌(BC)配对原发肿瘤和复发肿瘤的PIK3CA突变状态,以深入了解PIK3CA靶向治疗的患者选择和检测时间的优化:数据来自2008年1月至2017年12月在北京大学第一医院乳腺病中心确诊的3035例BC患者。采用扩增-难治性突变系统聚合酶链反应对匹配的原发和复发样本进行了分析,涵盖了PIK3CA的11个突变热点:结果:54.3%的原发肿瘤和48.6%的复发肿瘤检测到PIK3CA突变。局部复发组中有37.5%的病例检测到PIK3CA突变,远处转移组中有40.0%的病例检测到PIK3CA突变,两者无统计学差异。此外,88.6%的配对患者的PIK3CA突变是一致的。在接受新辅助化疗的患者中,一致性达到100%。然而,PIK3CA突变既与临床病理特征无关,也与临床结果无关:结论:在HR+/HER2- BC中,PIK3CA突变通常会发展为复发性肿瘤。原发肿瘤和相应复发肿瘤的PIK3CA突变状态的高一致性表明,在不易获得复发样本时,检测原发肿瘤可作为一种替代方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
3.70
自引率
8.30%
发文量
177
审稿时长
3-8 weeks
期刊介绍: Japanese Journal of Clinical Oncology is a multidisciplinary journal for clinical oncologists which strives to publish high quality manuscripts addressing medical oncology, clinical trials, radiology, surgery, basic research, and palliative care. The journal aims to contribute to the world"s scientific community with special attention to the area of clinical oncology and the Asian region. JJCO publishes various articles types including: ・Original Articles ・Case Reports ・Clinical Trial Notes ・Cancer Genetics Reports ・Epidemiology Notes ・Technical Notes ・Short Communications ・Letters to the Editors ・Solicited Reviews
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信