期刊
BLOOD
卷 118, 期 8, 页码 2222-2238出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2011-03-342774
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资金
- Leukemia & Lymphoma Research Specialist Program [08030]
- NIHR Biomedical Research Centres
- Medical Research Council Disease Team
- MRC Molecular Hematology Unit
- Imperial College London Comprehensive Biomedical Research Center
- German Research Foundation [DFG RE2580/1-1]
- Madeleine-Schickedanz Leukemia Foundation
- Medical Research Council [G1000801c] Funding Source: researchfish
Children with Down syndrome (DS) up to the age of 4 years are at a 150-fold excess risk of developing myeloid leukemia (ML-DS). Approximately 4%-5% of newborns with DS develop transient myeloproliferative disorder (TMD). Blast cell structure and immunophenotype are similar in TMD and ML-DS. A mutation in the hematopoietic transcription factor GATA1 is present in almost all cases. Here, we show that simple techniques detect GATA1 mutations in the largest series of TMD (n = 134; 88%) and ML-DS (n = 103; 85%) cases tested. Furthermore, no significant difference in the mutational spectrum between the 2 disorders was seen. Thus, the type of GATA1 sequence mutation is not a reliable tool and is not prognostic of which patients with TMD are probable to develop ML-DS. (Blood. 2011;118(8):2222-2238)
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