在患有恶性黑色素瘤的患者中通过日本的向测序确定了可操作的基因变异
Takuro Noguchi1,2, Shin Ariga2, Rika Moku2
1Department of Medical Oncology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido, Japan.
JCO precision oncology
|January 17, 2025
概括
像BRAF,NRAS,NF1和KIT这样的可操作的基因变异在日本黑色素瘤患者中很常见. 然而,由于对基因匹配临床试验的访问有限,日本对精准医学的需求尚未得到满足.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 精准医学是一门精准的医学.
背景情况:
- 先进的黑色素瘤治疗依赖于精准医学.
- 黑色素瘤在亚洲人群中不太常见,限制了临床试验.
- 关于日本黑色素瘤患者的真实数据很少.
研究的目的:
- 研究日本黑色素瘤患者的分子诊断和结果.
- 利用综合基因组分析 (CGP) 进行现实世界数据分析.
- 了解这个群体中可操作的基因组改变的景观.
主要方法:
- 对569名日本黑色素瘤患者的回顾性分析.
- 分析了综合基因组分析 (CGP) 数据.
- 审查了临床注释和治疗结果.
主要成果:
- 皮肤,粘膜和阴膜黑色素瘤分别占64%,28%和7%的病例.
- 常见的变体包括BRAF (25%),NRAS (20%),NF1 (17%) 和KIT (17%).
- 对于NRAS (97%),BRAF (82%),NF1 (69%) 和KIT (54%) 观察到可采取行动的变化的高百分比.
结论:
- 在日本黑色素瘤患者中,可操作的基因变异很普遍.
- 一小部分患者 (6.3%) 接受了基于分子瘤委员会建议的治疗.
- 在日本,有很大需要改善对基因匹配临床试验的准入.
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