International Journal of Hematology

, Volume 94, Issue 2, pp 126–133

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

Progress in Hematology Signaling and transcription in the development of leukemia

DOI: 10.1007/s12185-011-0858-z

Cite this article as:
Goyama, S. & Mulloy, J.C. Int J Hematol (2011) 94: 126. doi:10.1007/s12185-011-0858-z


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.


Core binding factor AML1-ETO CBFβ-MYH11 RUNX1 Acute myeloid leukemia 

Copyright information

© The Japanese Society of Hematology 2011

Authors and Affiliations

  1. 1.Division of Experimental Hematology and Cancer Biology, Cincinnati Children’s Hospital Medical CenterUniversity of Cincinnati College of MedicineCincinnatiUSA

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