title: Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis.
abstract: Most patients with systemic mastocytosis (SM) carry a D816 V KIT mutation causing a ligand-independent activation of the receptor. Down-stream of KIT is several components known to be mutated in different malignancies. RAF is among the most frequently mutated kinases, where BRAF V600E mutation occurs in most hairy cell leukemias (HCL) and half of malignant melanomas. We investigated BRAF mutations in 36 subjects with different forms of SM, but could not detect BRAF mutation in any of the cases, not even in the mast cell lineage of a patient with V600E BRAF-positive HCL. Thus, although BRAF is commonly mutated it appears not to be present in SM.
authors.affiliation: Department of Hematology, Karolinska University Hospital Huddinge, Stockholm, Sweden.
authors.forename: H
authors.initials: H
authors.lastname: Hägglund
authors.forename: B
authors.initials: B
authors.lastname: Sander
authors.forename: A
authors.initials: A
authors.lastname: Ahmadi
authors.forename: T
authors.initials: T
authors.lastname: Gülen
authors.forename: G
authors.initials: G
authors.lastname: Nilsson
mesh_terms: D006801:Humans; D007943:Leukemia, Hairy Cell / Q000235:genetics; D034721:Mastocytosis, Systemic / Q000235:genetics*; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf