Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia - PubMed (original) (raw)

. 2011 Aug 25;118(8):2222-38.

doi: 10.1182/blood-2011-03-342774. Epub 2011 Jun 29.

Katarina Reinhardt, Catherine Garnett, Alice Norton, Katarina Böhmer, Christine von Neuhoff, Alexandra Kolenova, Emanuele Marchi, Jan-Henning Klusmann, Irene Roberts, Henrik Hasle, Dirk Reinhardt, Paresh Vyas; International Myeloid Leukemia-Down Syndrome Study Group

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Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia

Kate A Alford et al. Blood. 2011.

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Abstract

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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