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转移性癌症患者RAF1异常的患病率:现实世界的数据

Sung Hee Lim¹, Jaeyun Jung^1,2, Jung Young Hong¹

¹Samsung Medical Center, Division of Hematology-Oncology, Department of Medicine, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.

|December 23, 2023

概括

大约2.0%的转移性固体癌症患者表现出RAF1异常,包括突变,放大和融合. 这些异常最常见于膀,阿姆普拉和黑色素瘤癌症,与微观卫星不稳定性高的瘤有显著的关联.

科学领域:

在瘤学瘤学.
遗传学遗传学是一个
癌症生物学癌症生物学

背景情况:

RAF1异常是癌症中潜在的治疗标.
了解固体瘤RAF1异常的临床相关性对于向治疗的开发至关重要.
在各种癌症中,MAPK信号通路经常失调.

研究的目的:

为了确定RAF1异常 (突变,放大,融合) 在转移性实体瘤中的发生率.
研究RAF1异常与临床特征之间的关联,包括瘤类型和微卫星不稳定性.
评估下一代测序 (NGS) 在常规临床实践中检测RAF1异常的实用性.

主要方法:

对3895名患有转移性固体癌症的患者进行了回顾性分析.
使用了下一代测序 (NGS) 与TruSight瘤500 (TSO500) 试验.
调查了RAF1突变 (SNV),放大 (拷贝数变异) 和融合的发生率.

主要成果:

在2.0% (77/3895) 的患者中发现了RAF1异常.
RAF1突变发生在1.1%,放大在0.6%,融合在0.3%.
在膀癌 (11.5%),腹膜癌 (5.3%) 和黑色素瘤 (3.0%) 中,RAF1异常最常见.
在RAF1异常和微卫星不稳定性高 (MSI-H) 瘤之间发现了显著的关联 (6.6%对2.1%,p < 0.0001).

结论:

大约2.0%的转移性固体癌症患者患有RAF1异常.
在临床瘤样本中,NGS有效检测RAF1异常.
RAF1异常,特别是与MSI-H状态相结合,可能代表重要的治疗点.

关键词:

这是一种RAF抑制剂.在 RAF1 偏差偏差.放大放大放大放大融合融合融合融合融合融合融合融合融合单核酸变体的一个核酸变体.

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