Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia.

Journal article

OBJECTIVE: Acquired somatic point mutations in RUNX1/CBFA2/AML1 have recently been described in a subset of patients with myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML). Given the importance of core-binding factor in megakaryocytic differentiation and platelet production, as well as the central role of megakaryocytes in the pathophysiology of myelofibrosis with myeloid metaplasia (MMM), we hypothesised that RUNX1 gene mutations might be common in MMM. In addition, it is unc...

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Authors: Steensma, D; Gibbons, R; Mesa, R; Tefferi, A; Higgs, D

• Publication status: Published
• Journal: European journal of haematology
• Volume: 74
• Issue: 1
• Pages: 47-53
• Publication date: 2005-01-01
• DOI: 10.1111/j.1600-0609.2004.00363.x
• EISSN: 1600-0609
• ISSN: 0902-4441
• Language: English
• Keywords: Proto-Oncogene Proteins; Point Mutation; DNA; DNA Mutational Analysis; Primary Myelofibrosis; Myelodysplastic Syndromes; Core Binding Factor Alpha 2 Subunit; Base Sequence; Humans; Transcription Factors; DNA-Binding Proteins; Risk Factors