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Point Mutations in the AML1/RUNX1 Gene Associated with Myelodysplastic Syndrome (MDS)


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Title: Point Mutations in the AML1/RUNX1 Gene Associated with Myelodysplastic Syndrome (MDS)
Authors: Harada, Hironori / Harada, Yuka / Kimura, Akiro
Issue Date: Dec-2005
Citation: Acta medica Nagasakiensia. 2005, 50(supl.1), p.91-95
Abstract: Myelodysplastic syndrome (MDS) is a clonal disorder of hematopoietic stem cells characterized by ineffective and inadequate hematopoiesis. MDS in a subset of patients arise after previous chemotherapy or radiation exposure for other malignancies. As MDS is a heterogeneous disorder, specific gene abnormalities playing a role in the myelodysplastic process have been difficult to identify. In this study, we analyzed the somatic mutations in the AML1/RUNX1 gene, which is a critical regulator of definitive hematopoiesis and the most frequent targets for translocation of acute myeloid leukemia (AML), in patients with MDS. We detected AML1 point mutations in 26 of 110 (23.6%) patients with refractory anemia with excess blasts (RAEB), RAEB in transformation (RAEBt) and AML following MDS (defined these categories as MDS/AML). Among 22 patients with radiation-related (including 14 atomic bomb survivors) and/or therapy-related MDS/AML, 11 (50%) patients had the AML1 mutations mostly in N-terminal region. In contrast, 15 of 88 (17%) patients with sporadic MDS/AML showed the AML1 mutations equally in both N-terminal and C-terminal region. The MDS/AML patients with AML1 mutations had a significantly worse prognosis than those without AML1 mutations. Most of AML1 mutants lost trans-activation potential, regardless of their DNA binding potential. These data suggested that AML1 point mutation is one of the major driving forces of MDS/AML, and these mutations may represent a distinct clinicopathologic-genetic entity.
Keywords: Myelodysplasticsyndrome(MDS) / AML1/RUNX1 / MDS/AML / Genomicinstability / Runtdomain / SecondaryMDS/AML
URI: http://hdl.handle.net/10069/9319
ISSN: 00016055
Relational Links: http://joi.jlc.jst.go.jp/JST.JSTAGE/amn/50.S91
Type: Departmental Bulletin Paper
Text Version: publisher
Appears in Collections:Volume 50, No. supl.1

Citable URI : http://hdl.handle.net/10069/9319

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