High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia
In: Blood, Jg. 103 (2004), Heft 6, S. 2316-2324
Online
academicJournal
- print, 33 ref
Zugriff:
A high incidence of somatically acquired point mutations in the AML1/RUNX1 gene has been reported in poorly differentiated acute myeloid leukemia (AML, M0) and in radiation-associated and therapy-related myelodysplastic syndrome (MDS) or AML. The vast majority of AML1 mutations identified in these diseases were localized in the amino (N)-terminal region, especially in the DNA-binding Runt homology domain. In this report, we show that AML1 point mutations were found in 26 (23.6%) of 110 patients with refractory anemia with excess blasts (RAEB), RAEB in transformation (RAEBt), and AML following MDS (defined these 3 disease categories as MDS/AML). Among them, 9 (8.2%) mutations occurred in the carboxy (C)-terminal region, which were exclusively found in MDS/AML and were strongly correlated with sporadic MDS/AML. All patients with MDS/AML with an AML1 mutation expressed wild-type AML1 protein and had a significantly worse prognosis than those without AML1 mutations. Most 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.
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High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia
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Autor/in / Beteiligte Person: | HARADA, Hironori ; HARADA, Yuka ; NIIMI, Hiromasa ; KYO, Taiichi ; KIMURA, Akiro ; INABA, Toshiya |
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Zeitschrift: | Blood, Jg. 103 (2004), Heft 6, S. 2316-2324 |
Veröffentlichung: | Washington, DC: The Americain Society of Hematology, 2004 |
Medientyp: | academicJournal |
Umfang: | print, 33 ref |
ISSN: | 0006-4971 (print) |
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