Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia
KA Alford, K Reinhardt, C Garnett… - Blood, The Journal …, 2011 - ashpublications.org
KA Alford, K Reinhardt, C Garnett, A Norton, K Böhmer, C von Neuhoff, A Kolenova…
Blood, The Journal of the American Society of Hematology, 2011•ashpublications.orgChildren 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 …
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 …
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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