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Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Haematology.
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2014 (English)In: Medical Oncology, ISSN 1357-0560, E-ISSN 1559-131X, Vol. 31, no 8, 123- p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2014. Vol. 31, no 8, 123- p.
Keyword [en]
Mastocytosis, Mast cell, BRAF, Mutation
National Category
Cancer and Oncology
URN: urn:nbn:se:uu:diva-231206DOI: 10.1007/s12032-014-0123-4ISI: 000340095700039OAI: oai:DiVA.org:uu-231206DiVA: diva2:745124
Available from: 2014-09-09 Created: 2014-09-05 Last updated: 2014-09-09Bibliographically approved

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