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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.

Original publication

DOI

10.1182/blood-2011-03-342774

Type

Journal article

Journal

Blood

Publication Date

25/08/2011

Volume

118

Pages

2222 - 2238

Keywords

Child, Preschool, DNA Mutational Analysis, Down Syndrome, Female, GATA1 Transcription Factor, Genetic Testing, Humans, Infant, Infant, Newborn, Leukemia, Myeloid, Male, Mutation, Myeloproliferative Disorders, Prognosis