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St. Jude Children's Research Hospital
The Molecular Genetics of Acute Megakaryocytic Leukemia
AMkL accounts for 15% of childhood AML and has a very poor prognosis. Although a few chromosomal abnormalities have been identified in AMkL, the genetic lesions underlying most cases remain unknown. Recent transcriptome analysis of AMkL performed in Dr. Larson’s laboratory identified a novel inv16(q24.3;p13.3) encoding a CBFA2T3-GLIS2 chimeric protein in 50% of cases. In the remaining cases, translocations were identified that targeted genes playing a direct role in normal megakaryocytic differentiation (GATA2 and FLI1) or previously implicated in leukemogenesis (MN1, NUP98, HOXA9, and HOXB9). This work will focus on defining the role of these genetic alterations in leukemogenesis.