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综合的基因组分析可以预测三阴性乳腺癌中新辅助化疗的反应

Monika Drobniene¹, Dominyka Breimelyte¹, Ieva Sadzeviciene²

¹National Cancer Institute, P. Baublio st. 3b, LT-08406, Vilnius, Lithuania; Institute of Biosciences, Life Sciences Center, Vilnius University, Sauletekio Ave. 7, LT-10257, Vilnius, Lithuania.

Breast (Edinburgh, Scotland)

|February 25, 2025

概括

使用 FoundationOne® CDx (F1CDx) 进行全面的基因组分析,可以预测早期三阴性乳腺癌 (TNBC) 的治疗反应和疾病进展. 这种测试可以指导辅助治疗和临床试验招生,以改善患者的治疗结果.

科学领域:

在瘤学瘤学.
基因组学就是基因组学.
乳腺癌研究研究乳腺癌研究

背景情况:

三重阴性乳腺癌 (TNBC) 呈现出可变的新辅助化疗 (NACT) 病理完整反应 (pCR) 率.
在NACT后的残留TNBC的辅助疗法提出了临床挑战.

研究的目的:

评估FoundationOne® CDx (F1CDx) 综合基因组分析的实用性.
预测非转移性TNBC患者的NACT反应和疾病结果.

主要方法:

93名II-III期TNBC患者在没有免疫治疗的情况下接受了NACT.
在诊断活检上使用F1CDx进行了全面的基因组分析.
层次聚类和后勤回归分析了基因组数据和治疗反应.

主要成果:

基因组分析揭示了异质的TNBC景观与瘤基因共同放大.
在95%的TNBC中发生TP53突变;BRCA1/2突变预测了有利的NACT反应 (OR=0.09,p=0.002).
在AR+病例中,CCNDs/FGFs共同突变 (OR=13.4,p=0.016) 和PI3Ks突变 (OR=6.1,p=0.008) 预测反应不佳;低瘤突变负担 (TMB≤3) 预测进展 (OR=9.4,p=0.009).

结论:

综合性CDx测试显示了预测NACT反应和早期TNBC进展的预后价值.
基因组分析应及早整合,以指导辅助治疗和临床试验选择.
最终的目标是改善患者的治疗结果,特别是当PCR无法实现时.

关键词:

综合性基因组分析分析新辅助化学疗法新辅助化学疗法三重阴性乳腺癌是什么?

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