Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis

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 occur...

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Published inMedical oncology (Northwood, London, England) Vol. 31; no. 8; p. 123
Main Authors Hägglund, H., Sander, B., Ahmadi, A., Gülen, T., Nilsson, G.
Format Journal Article
LanguageEnglish
Published Boston Springer US 01.08.2014
Springer Nature B.V
Subjects
BRAF
Hematology
Humans
Internal Medicine
Leukemia, Hairy Cell - genetics
Mast cell
Mastocytosis
Mastocytosis, Systemic - genetics
Medicin och hälsovetenskap
Medicine
Medicine & Public Health
Mutation
Oncology
Pathology
Proto-Oncogene Proteins B-raf - genetics
Proto-Oncogene Proteins c-kit - genetics
Short Communication
Mastocytosis
Mast cell
BRAF
Mutation
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:1357-0560
1559-131X
1559-131X
DOI:10.1007/s12032-014-0123-4