Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome

ME Greene, G Mundschau, J Wechsler… - Blood Cells, Molecules …, 2003 - Elsevier
Mutations in transcription factors often contribute to human leukemias by providing a block to
normal differentiation. To determine whether mutations in the hematopoietic transcription
factor GATA1 are associated with leukemia, we assayed for alterations in the GATA1 gene in
bone marrow samples from patients with various subtypes of acute leukemia. Here we
summarize our findings that GATA1 is mutated in the leukemic blasts of patients with Down
syndrome acute megakaryoblastic leukemia (DS-AMKL). We did not find mutations in …