Hybridization of CBFB break probe to a metaphase spread showing normal pattern (2RG).
RUO - CBFB Break
Inv(16)(p13;q22) and t(16;16)(p13;q22) are recurring chromosomal rearrangements in AML. In both the inversion and translocation, the critical genetic event is the fusion of the CBFB gene at 16q22 to the smooth muscle myosin heavy chain (MYH11) at 16p13. A deletion of between 150 and 350 kb centromeric to the p-arm inversion breakpoint cluster region can be observed in some patients containing the 5' portion of the myosin heavy chain (MYH11) gene. The CBFB t(16;16) inv(16) break FISH probe is optimized to detect the inversion of chromosome 16 involving the CBFB gene region at 16q22 in a dual-color, split assay.
References: Dauwerse et al, 1993, Hum.Mol.Genet., 2; 1527-1534. Marlton et al, 1995, Blood, 85; 772-779.