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多基因小组中的体性突变以及在接受新辅助治疗的中国HER2阳性患者中基于TP53状态的预后的影响:单一机构的回顾性队列研究

Min Xiong¹, Xuliren Wang¹, Douwaner Liu¹

¹Department of Breast Surgery, Key Laboratory of Breast Cancer in Shanghai, Fudan University Shanghai Cancer Center, Shanghai, China.

Cancer medicine

|February 21, 2024

概括

在HER2阳性乳腺癌 (BC) 的遗传突变影响新辅助疗法 (NAT) 的反应和预后. TP53突变是关键的预后指标,影响个性化护理的治疗决策.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
乳腺癌研究研究乳腺癌研究

背景情况:

基因突变对瘤发育至关重要,特别是在乳腺癌 (BC) 中.
新辅助疗法 (NAT) 在HER2-阳性BC中显示出显著的临床益处.
要了解基因突变,NAT疗效和HER2-阳性BC的长期结果之间的联系,需要进一步研究.

研究的目的:

调查基因突变与HER2-阳性BC.中NAT后的病理完整反应 (pCR) 之间的关联.
评估基因突变对该患者队伍无病生存期 (DFS) 的影响.
探索用NAT治疗的HER2阳性BC中特定基因突变的预后意义.

主要方法:

对222名接受NAT治疗的HER2阳性BC患者进行了回顾性队列研究 (2017-2021).
513个与癌症相关的基因的下一代测序 (NGS).
分析基因突变,pCR和DFS之间的相关性.

主要成果:

48.65%的患者实现了pCR;ER阴性,PR阴性,高Ki67和双向治疗与更高的pCR率有关.
最常见的体质变化是TP53 (60%),PIK3CA (15%) 和ERBB2 (11%).
TP53突变与DFS事件有显著的关联,并且在HER2阳性BC中具有预后意义,特别是在HR阴性和pCR亚组中,以及仅接受herceptin治疗时.

结论:

在接受NAT的中国HER2阳性患者中,基因突变概况因HR状态和DFS事件而异.
TP53突变是HER2-阳性BC中NAT的显著预后标志物.
基于个体遗传和临床特征的治疗定制对于优化患者的治疗结果至关重要.

关键词:

HER2阳性乳腺癌是什么意思人类表皮生长因子受体2 (HER2)新辅助疗法 (NAT) 是一种新辅助疗法.病理完整反应 (pCR) 是一种病理的完整反应.身体突变是一种体质突变.

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