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诊断测序确定高风险标志物和耐药性机制,以指导免疫疗法选择

Parvathi Sudha¹, Phillip Pham¹, Wen Niu²

¹Division of Hematolgy and Oncology, Melvin and Bren Simon Comprehensive Cancer Center, Indiana University School of Medicine, Indianapolis, IN.

|October 15, 2025

概括

多发性骨髓瘤 (MM) 样本的下一代测序可以识别高风险标记物和治疗抵抗机制. 这种精确的方法指导免疫疗法方案,改善了MM护理中的患者结果.

科学领域:

在瘤学瘤学.
遗传学遗传学是一个
免疫治疗是一种免疫疗法.

背景情况:

多发性髓瘤 (MM) 是一种由遗传异质性为特征的血液性恶性瘤.
治疗耐药性和复发是MM管理中的重大挑战.
识别可操作的突变和抵抗机制对于个性化治疗至关重要.

研究的目的:

评估针对性下一代测序 (NGS) 在多发性骨髓瘤 (MM) 患者中的有用性.
确定高风险的遗传标记物和对免疫调节药物 (IMiD) 和免疫疗法的耐药性机制.
引导精准医学策略,根据不断变化的耐药性模式调整治疗方案.

主要方法:

分析了来自134名MM患者 (燃烧,新诊断,复发) 的CD138+选择骨髓吸血样本.
使用临床诊断小组进行了有针对性的测序.
分析了高风险标志物,IMID耐药性改变和免疫治疗点的数据.

主要成果:

在15%新诊断的MM中发现了高风险标志物 (例如,t(4;14),TP53删除/突变).
在IMiD治疗的复发患者中,24.3%发生了脑膜通路的改变.
CD38和BCMA中的删除与抗CD38和抗BCMA疗法有关,分别指导治疗调整.

结论:

针对性地对MM诊断样本进行测序,使风险分层成为可能.
国家基因系统可以监测耐药机制,并指导适应性治疗策略.
精确测序对于优化免疫疗法和管理MM治疗耐药性非常有价值.

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