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Trisomy 21 [Down's syndrome (DS)] and mutations in transcription factor GATA1 predispose neonates to a transient myeloproliferative disorder (TMD) and/or acute megakaryocytic leukaemia (AMKL). The role of trisomy 21 in their pathogenesis is unclear. We previously reported two rare neonates without DS who had TMD, one of whom progressed to AMKL. Trisomy 21 was detected only in blood cells at presentation with TMD/AMKL and disappeared with disease resolution. We now show that the blood cells at presentation of TMD harboured GATA1 genomic DNA mutations, suggesting a requirement for trisomy 21 in haematopoietic cells, rather than other cell types, for development of TMD/AMKL.

Original publication




Journal article


Br J Haematol

Publication Date





548 - 551


Base Sequence, Chromosomes, Human, Pair 21, DNA Mutational Analysis, DNA, Neoplasm, DNA-Binding Proteins, Erythroid-Specific DNA-Binding Factors, Female, GATA1 Transcription Factor, Humans, Infant, Newborn, Leukemia, Megakaryoblastic, Acute, Male, Molecular Sequence Data, Mutation, Myeloproliferative Disorders, Neoplasm Proteins, Transcription Factors, Trisomy