Clinicopathological characteristics and prognostic analysis of PIK3CA mutation in breast cancer patients in Northwest China.
Clinicopathological characteristics and prognostic analysis of PIK3CA mutation in breast cancer patients in Northwest China.
复制标题
西北地区乳腺癌患者PIK3CA突变的临床病理特征及预后分析
DOI：
10.1016/j.prp.2022.154063
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发表时间：
2022-08
影响因子：
2.8
通讯作者：
Shuqun Zhang
中科院分区：
文献类型：
--
作者：
Wei Lv;Chong Du;Yinbing Zhang;Fei Wu;Yaofeng Jin;Xi Chen;Xuan Liu;Cong Feng;Xingcong Ma;Shuqun Zhang
PIK 3CA基因突变与乳腺癌的相关性研究较多，但在不同国家、不同种族甚至同一国家的人群中，研究结果存在争议。本研究旨在探讨西北地区乳腺癌患者PIK 3CA基因突变情况，揭示PIK 3CA基因突变与乳腺癌临床病理特征沿着预后的关系。本研究收集西北地区1002例乳腺癌患者，从福尔马林固定石蜡包埋（FFPE）肿瘤组织中提取基因组DNA，ARMS-PCR检测PIK 3CA基因第9、20外显子热点突变，313/1002例（31.2%）的BC患者存在PIK 3CA基因突变，其中第20%外显子突变占66.1%，第9外显子突变占32.6%。H1047 R是最常见的突变类型，占总突变样本的56.5%。PIK 3CA突变与年龄（P = 0.035）、组织病理类型（P = 0.004）、病理分级（P = 0.013）、ER阳性（P < 0.001）、PR阳性（P <0.001）、分子亚型（P = 0.004）和家族史（P = 0.007）相关。考克斯多因素分析显示，外显子9或20突变患者的DFS和OS较野生型患者短。外显子9突变亚组预后最差。PIK 3CA基因突变可作为西北地区乳腺癌多亚群临床预后或靶向治疗的指标。
Multiple studies on PIK3CA mutations in breast cancer (BC) had been performed, which showed the controversial results among different countries and races even those from the same country. The present study aimed to explore the PIK3CA gene mutation status in BC patients in Northwest China and reveal the relationship between PIK3CA mutations and clinicopathological features along with prognosis.1002 BC patients from Northwest China were recruited in this study, genomic DNA was extracted from formalin-fixed paraffin-embedded (FFPE) tumor tissues, and hotspot mutations in the exon 9 and 20 of PIK3CA gene were detected by ARMS-PCR.PIK3CA mutations were found in 31.2% (313/1002) of BC patients, among them 66.1% were mutations in exon 20% and 32.6% were mutations in exon 9. H1047R was the most common mutation type, accounting for 56.5% of the total mutated samples. Significant correlations were observed between PIK3CA mutation status and age (P = 0.035), histopathologic types (P = 0.004), pathological grade (P = 0.013), ER positivity (P < 0.001), PR positivity (P < 0.001), molecular subtypes (P = 0.004) and family history (P = 0.007). Cox multivariate analysis showed that patients with mutations in exon 9 or 20 had shorter DFS and OS than wild-type patients. Those with exon 9 mutations subgroup had the worst prognosis. Interestingly, patients with H1047L mutation had the best prognosis than others.PIK3CA mutations could be used as an indicator of clinical outcome or targeted therapy for multiple breast cancer subgroups in Northwest China.
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影响因子：
3.9
作者：
Xiao W;Zhang G;Chen B;Chen X;Wen L;Lai J;Li X;Li M;Liu H;Liu J;Han-Zhang H;Lizaso A;Liao N
通讯作者：
Liao N
影响因子：
4.6
作者：
Deng L;Zhu X;Sun Y;Wang J;Zhong X;Li J;Hu M;Zheng H
通讯作者：
Zheng H
影响因子：
2.8
作者：
Lian J;Xu EW;Xi YF;Wang HW;Bu P;Wang JF;Wang LX
通讯作者：
Wang LX
DOI：
10.1093/annonc/mdx803
发表时间：
2018-10
期刊：
Annals of oncology : official journal of the European Society for Medical Oncology
影响因子：
--
作者：
S. Loibl;I. Majewski;V. Guarneri;V. Nekljudova;E. Holmes;E. Bria;C. Denkert;C. Schem;C. Sotiriou;S. Loi;M. Untch;P. Conte;R. Bernards;M. Piccart;G. von Minckwitz;J. Baselga
通讯作者：
S. Loibl;I. Majewski;V. Guarneri;V. Nekljudova;E. Holmes;E. Bria;C. Denkert;C. Schem;C. Sotiriou;S. Loi;M. Untch;P. Conte;R. Bernards;M. Piccart;G. von Minckwitz;J. Baselga
影响因子：
2.8
作者：
Courtnay, Rupert;Ngo, Darleen C.;Karagiannis, Tom C.
通讯作者：
Karagiannis, Tom C.