CBFß/MYH11 Translocation, Dual Fusion LPH022

The fusion gene MYH11/CBFβ which is created by the inversion inv(16)(p13;q22) found in 20% of AML M4 cases and overall, abnormalities involving 16q22 are seen in 5-10% of AML. The mutated CBFβ protein is thought to repress the action of a tumour suppressor gene product. For patients with the rearrangement, complete remission rate is high and so the prognosis is better than most of the AML associated abnormalities. Variant rearrangements also occur which also affect the CBFβ gene, namely t(16;16)(p13;q22) and del(16)(q22). The latter is associated with previous MDS, older age, a complex karyotype and a worse prognosis. Detection of rearrangements involving CBFβ will therefore provide prognostic as well as diagnostic information.