美国退伍军人患有转移性前列腺癌的癌症变异,种族和生存率 接受体质瘤下一代测序
Luca F Valle1,2,3, Jiannong Li4, Heena Desai5,6
1Radiation Oncology Service, VA Greater Los Angeles Healthcare System, Los Angeles, CA 90073.
bioRxiv : the preprint server for biology
|November 1, 2024
概括
转移性前列腺癌 (mPCa) 下一代测序 (NGS) 揭示了基因组改变中的种族差异. 非西班牙裔黑人退伍军人免疫疗法目标的比率更高,而这两组都显示出瘤抑制基因改变对生存的影响.
科学领域:
- 基因组医学是一种基因组医学.
- 在瘤学瘤学.
- 在健康方面存在差异.
背景情况:
- 国家指导方针主张在转移性前列腺癌 (mPCa) 中使用下一代测序 (NGS) 来识别可操作的基因变异.
- 了解基因组格局及其差异对于不同患者群体的公平治疗策略至关重要.
研究的目的:
- 描述前列腺癌相关基因和途径中遗传变化的频率和频谱.
- 调查这些变化,自我认同的种族/种族以及美国退伍军人的整体存活率之间的关联.
主要方法:
- 一项追溯的队列研究,对5015名美国退伍军人进行了mPCa,他们接受了NGS.
- 分析包括7个途径的45个基因,瘤突变负担 (TMB) 和微卫星不稳定性 (MSI) 状态.
- 统计模型 (逻辑回归,Cox比例危险) 评估了种族/种族与基因组变化和整体存活率的关联.
主要成果:
- 在非西班牙裔黑人 (NHB) 和非西班牙裔白人 (NHW) 退伍军人之间,基因组改变的频率有所不同.
- 在NHB退伍军人中,SPOP和免疫治疗目标 (包括MSI高状态) 的变化几率更高.
- 在NHB退伍军人中,AKT/PI3K通路,AR轴和瘤抑制基因发生变化的几率较低. 瘤抑制基因 (例如TP53) 的变化与两组患者的总体存活时间较短有关.
结论:
- 在VA医疗保健系统内的mPCa患者的基因组测试揭示了与种族/种族相关的变化频率的差异.
- 这些发现凸显了基因组分析对于在所有种族/族群中识别治疗候选人的重要性.
- 基因组测试可以促进前列腺癌护理中的更公平的结果.
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