The biology of pediatric acute megakaryoblastic leukemia

TA Gruber, JR Downing - Blood, The Journal of the American …, 2015 - ashpublications.org
TA Gruber, JR Downing
Blood, The Journal of the American Society of Hematology, 2015ashpublications.org
Acute megakaryoblastic leukemia (AMKL) comprises between 4% and 15% of newly
diagnosed pediatric acute myeloid leukemia patients. AMKL in children with Down
syndrome (DS) is characterized by a founding GATA1 mutation that cooperates with trisomy
21, followed by the acquisition of additional somatic mutations. In contrast, non–DS-AMKL is
characterized by chimeric oncogenes consisting of genes known to play a role in normal
hematopoiesis. CBFA2T3-GLIS2 is the most frequent chimeric oncogene identified to date in …
Abstract
Acute megakaryoblastic leukemia (AMKL) comprises between 4% and 15% of newly diagnosed pediatric acute myeloid leukemia patients. AMKL in children with Down syndrome (DS) is characterized by a founding GATA1 mutation that cooperates with trisomy 21, followed by the acquisition of additional somatic mutations. In contrast, non–DS-AMKL is characterized by chimeric oncogenes consisting of genes known to play a role in normal hematopoiesis. CBFA2T3-GLIS2 is the most frequent chimeric oncogene identified to date in this subset of patients and confers a poor prognosis.
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