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在多民族乳腺癌患者中分子标的临床可行性:一项回顾性单一机构研究

Irene Kang¹, Leah Naghi², Susan E Yost²

¹Department of Medical Oncology, City of Hope National Medical Center, 1000 Fivepoint, Irvine, CA, 92618, USA. ikang@coh.org.

Molecular diagnosis & therapy

|April 7, 2025

概括

这项研究分析了1010名乳腺癌患者的基因组报告,在784名乳腺癌患者中发现了可行的突变. 它强调了针对性治疗的使用,如PARP抑制剂和alpelisib,中位数无进展生存时间分别为9.0个月和7.9个月.

科学领域:

基因组医学是一种基因组医学.
在瘤学瘤学.
发现生物标志物的发现.

背景情况:

精确瘤学推进了个性化癌症治疗.
经FDA批准的向疗法包括BRCA1/2-突变转移性乳腺癌 (BC) 的PARPi (olaparib,talazoparib).
PI3K抑制剂 (alpelisib) 和其他 (capivasertib,elacestrant) 向HR+HER2-高级BC中的特定突变.

研究的目的:

审查乳腺癌患者的基因组报告.
识别可操作的突变,并通过向疗法评估结果.
为了评估FDA批准的药物所针对的突变的频率.

主要方法:

对来自1010名BC患者的1361份基因组报告 (2013-2023) 的回顾性审查.
使用各种NGS平台进行甲固定嵌 (FFPE) 和液体活检的分析.
图表审查以收集患者特征和治疗数据;卡普兰-梅尔生存分析方法.

主要成果:

在1010名患者中确定了784个可操作的突变.
常见的突变包括TP53 (44%),PIK3CA (38%),ESR1 (14%),PTEN (12%) 等.
10%的患者患有BRCA1/2/PALB2突变,其中34.4%接受PARPi (中位数PFS9.0个月,OS21.8个月). 22%患有PIK3CA突变的人接受了alpelisib (PFS中位数为7.9个月,OS为31.2个月).

结论:

基因组测序在乳腺癌患者中发现了许多可操作的突变.
很大一部分患者患有可被FDA批准的治疗方法 (如PARPi,alpelisib,capivasertib和elacestrant) 向的突变.
需要进一步的研究来优化治疗策略,并根据这些基因组发现改善患者的治疗结果.

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