inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
−
The CBFβ–MYH11 fusion protein exerts a dominant negative function by increased binding to the transcription factor encoded by RUNX1, thereby competing for free Runx1 protein, and leading to lowered and altered transcription of myeloid genes [2].
+
The CBFβ–MYH11 fusion gene encodes a protein that exerts a dominant negative function by binding to the transcription factor encoded by RUNX1. The fusion protein encoded by CBFβ–MYH11 competes (10-fold increased binding affinity) with normal CBFbeta protein for free Runx1 protein, and leading to lowered and altered transcription of myeloid genes normally controlled by CBFbeta and Runx1 transcription factors [2].