PML/RARα Translocation, Dual Fusion

The fusion gene PML/RARα is created by the t(15;17)(q22;q21) translocation found in 98% of AML M3 Acute hypergranular Promyelocytic Leukaemia and 9% of AML overall. The fusion protein generated, PML-RARα, is a chimeric transcription factor that operates as a dominant negative form of RARα. Gain of function mutation allows repression of multiple genes and prolonged suppression of promotors. Immediate treatment is critical as intravascular coagulation causes early death in 10-40% of cases.