Unlike AML1, CBFβ gene is not deregulated by point mutations in acute myeloid leukemia and in myelodysplastic syndromes

The core-binding factor (CBF) complex is a heterodimeric transcription factor composed of 2 subunits, CBFα and CBFβ, that play a major role in hematopoiesis. Both members of the CBF complex are frequently altered in acute myeloid leukemia (AML) by translocation, most commonly t(8;21), t(12;21), and t(3;21) for CBFα, located in 21q22, and inv16(p13;q22) for CBFβ, located on 16q22. Recently, a new mechanism of alteration of CBFα, by point mutation, has been reported in myeloid malignancies, particularly in M0 AML. In the present study, we found no point mutation of the CBFβ gene in 30 myelodysplastic syndromes and 100 AMLs, suggesting a limited role, if any, of CBFβ point mutations in those disorders.