The impact of trisomy 21 on foetal haematopoiesis

I Roberts, D O'Connor, A Roy, G Cowan… - Blood Cells, Molecules …, 2013 - Elsevier
The high frequency of a unique neonatal preleukaemic syndrome, transient abnormal
myelopoiesis (TAM), and subsequent acute myeloid leukaemia in early childhood in patients
with trisomy 21 (Down syndrome) points to a specific role for trisomy 21 in transforming
foetal haematopoietic cells. N-terminal truncating mutations in the key haematopoietic
transcription factor GATA1 are acquired during foetal life in virtually every case. These
mutations are not leukaemogenic in the absence of trisomy 21. In mouse models …