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Alford, Kate A.; Reinhardt, Katarina; Garnett, Catherine; Norton, Alice; Böhmer, Katarina; von Neuhoff, Christine; Kolenova, Alexandra; Marchi, Emanuele; Klusmann, Jan-Henning; Roberts, Irene; Hasle, Henrik; Reinhardt, Dirk; Vyas, Paresh
Blood, 08/2011, Letnik: 118, Številka: 8Journal Article
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.
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in: SICRIS
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