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Novel activating BRAF fusion identifies a recurrent alternative mechanism for ERK activation in pediatric Langerhans cell histiocytosis
Author(s) -
Zarnegar Sara,
Durham Benjamin H.,
Khattar Pallavi,
Shukla Neerav N.,
Benayed Ryma,
Lacouture Mario E.,
Lavi Ehud,
Lyden David C.,
Diamond Eli L.,
Dunkel Ira J.,
AbdelWahab Omar
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26699
Subject(s) - mapk/erk pathway , langerhans cell histiocytosis , medicine , cancer research , kinase , mutation , biology , genetics , gene , disease
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 BRAF V600E 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.