Myeloid leukemia of Down syndrome (ML-DS) evolves from a subclone of transient abnormal myelopoiesis (TAM)

GATA1 mutations in prenatal hematopoietic cells with trisomy 21 result in transient abnormal myelopoiesis (TAM). After apparent resolution of TAM, additional mutations cooperating with mutant GATA1 result in transformation to myelodysplastic syndrome and myeloid leukemia in a subset of patients.