Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019621 (Langerhans cell histiocytosis)
3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:A(nother) RAF mutation in LCH. 2465 91