探索黑色素瘤中的分子遗传变异和RAF融合:贝尔瓦法尼布扩展访问计划在RAS/RAF突变黑色素瘤患者中
Kyoo Hyun Kim1, Sungmin Cho2, Yeyeong Jeong2
1Division of Medical Oncology, Department of Internal Medicine, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, Republic of Korea.
The oncologist
|March 12, 2024
概括
下一代测序 (NGS) 在东亚黑色素瘤患者中发现了常见的BRAF和NRAS变异. 泛RAF抑制剂贝尔瓦法尼布在这些突变患者中显示出临床益处,扩大了向治疗选择.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 皮肤病学 皮肤病学
背景情况:
- 在东亚,黑色素瘤的发病率正在增加.
- 有限的分子景观研究存在于这个人群中.
- 专注于NRAS/RAF变化和贝尔瓦法尼布治疗.
研究的目的:
- 研究东亚患者黑色素瘤的分子概况.
- 评估贝尔瓦法尼布在NRAS或RAF变化的患者中的疗效.
- 强调下一代测序 (NGS) 的实用性.
主要方法:
- 对接受NGS (2017年11月 - 2023年5月) 的192名黑色素瘤患者的回顾性分析.
- 患有NRAS/RAF变化的患者通过扩展访问计划 (EAP) 接受了贝尔瓦法尼布 (450毫克两次).
- 分析了变种呼叫格式数据.
主要成果:
- 最常见的是RAS/RTK路径的改变 (BRAF:22.4%,NRAS:17.7%).
- 在NGS检测到的融合突变 (6个BRAF,1个RAF1).
- 在16名患者的贝尔瓦法尼布治疗中,疾病控制率为50%,有2个显著的反应.
结论:
- 在黑色素瘤中,NGS对于检测BRAF/NRAS突变和RAF融合非常有价值.
- 贝尔瓦法尼布在患有这些特定变化的患者中显示出临床益处.
- 需要进一步的试验来确认贝尔瓦法尼布的安全性和有效性.
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