International Journal of Hematology

DOI: 10.1007/s12185-011-0858-z Pages: 126-133

Molecular pathogenesis of core binding factor leukemia: current knowledge and future prospects

1. University of Cincinnati College of Medicine, Division of Experimental Hematology and Cancer Biology, Cincinnati Children’s Hospital Medical Center

Correspondence to:
James C. Mulloy



Core binding factor (CBF) acute myeloid leukemia (AML) is the most common cytogenetic subtype of AML, defined by the presence of t(8;21) or inv(16)/t(16;16). The chromosomal aberrations create AML1-ETO and CBFβ-MYH11 fusion genes that disrupt the functions of CBF, an essential transcription factor in hematopoiesis. Despite the relatively good outcome of patients with CBF-AML, only approximately half of the patients are cured with current therapy, indicating the need for improved therapeutic strategies. In this review, we summarize current knowledge regarding altered transcriptional regulation, aberrant signaling pathways, and cooperating genetic events in CBF leukemia, and discuss challenges ahead for translating these findings into the clinic.

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