Novel activating BRAF fusion identifies a recurrent alternative mechanism for ERK activation in pediatric Langerhans cell histiocytosis
Abstract
Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasm characterized by constitutive activation of extracellular signal‐regulated kinase (ERK). Genomic characterization has identified activating point mutations including mutually exclusive BRAFV600E and activating MAP2K1 mutations to be responsible for ERK activation in a majority of pediatric LCH patients. Here, we report the discovery of a novel BRAF kinase fusion, PACSIN2‐BRAF, in a child with multisystem LCH. This is the second reported case of an activating BRAF kinase fusion and indicates a recurrent pathologic mechanism. Genomic evaluation for activating kinase fusions should be strongly considered in pediatric LCH patients lacking more common mutations.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Jul 27, 2017
- Source ID
- 10.1002/pbc.26699
Entities
People
- Benjamin H. Durham
- David C. Lyden
- Ehud Lavi
- Eli L Diamond
- Ira J. Dunkel
- Mario E. Lacouture
- Neerav N Shukla
- Omar Abdel‐wahab
- Pallavi Khattar
- Ryma Benayed
- Sara Zarnegar
Organizations
- American Society of Hematology
- CURE Childhood Cancer
- Damon Runyon Cancer Research Foundation
- Edward P. Evans Foundation
- Histiocytosis Association
- Memorial Sloan Kettering Cancer Center
- National Heart, Lung, and Blood Institute
- National Institutes of Health
- The Starr Foundation
- United States Department of Defense
- Weill Cornell Medicine