另一个 LCH 中的 RAF 突变。
A(nother) RAF mutation in LCH.
机构信息
UNIVERSITY OF CALIFORNIA, SAN FRANCISCO.
出版信息
Blood. 2014 May 15;123(20):3063-5. doi: 10.1182/blood-2014-04-565481.
Abstract
In this issue of Blood, Nelson et al describe a novel somatic ARAF mutation in a child with Langerhans cell histiocytosis (LCH) and demonstrate that the encoded protein has strong gain-of-function properties. Importantly, this mutant A-Raf molecule is sensitive to inhibition by vemurafenib, a potent and selective Raf kinase inhibitor that is Food and Drug Administration (FDA)-approved for the treatment of advanced melanoma. This work thus identifies a new driver mutation in LCH that is potentially actionable in the clinic.
摘要
在本期《Blood》中，Nelson 等人描述了一例朗格汉斯细胞组织细胞增生症（LCH）患儿中新型的 ARAF 体细胞突变，并证实该编码蛋白具有很强的获得性功能。重要的是，这种突变型 A-Raf 分子对 vemurafenib 抑制敏感，vemurafenib 是一种强效、选择性的 Raf 激酶抑制剂，已获美国食品和药物管理局（FDA）批准用于治疗晚期黑色素瘤。这项工作因此确定了 LCH 中一种新的潜在可治疗的驱动突变。
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