CBFB/MYH11

Patients with inv(16) appear to have a favorable response to therapy, although the presence c- KIT mutations confer poorer prognosis. In 90% of cases with inv(16)(p13q22) an exon5CBFβ/exon12MYH11 fusion is observed, but in rare cases fusion of exon5CBFβ with exon7MYH11 or exon8MYH11 has also been reported.

Inv(16)(p13q22) or the variant t(16;16)(p13;q22) are frequent recurring chromosomal rearrangements reported to account for up to 16% of the karyotypic abnormalities detected in AML; and are strongly associated with cases showing myelo-monocytic differentiation and having abnormal bone marrow eosinophils (the FAB subtype M4Eo).  On the molecular level the core binding factor β (CBFβ) gene at 16q22 and the myosin heavy chain gene (MYH11) at 16p13 recombine to create the fusion gene CBFβ-MYH11.