Revealing the mutational landscape of APL

Acute promyelocytic leukemia (APL) is a particular subtype of acute myeloid leukemia (AML), first described as a unique condition in 1957 (1). Right from the beginning, it became evident that APL had a peculiar morphology and distinctive clinical features to other forms of AML. Bone marrow of patients with APL showed a differentiation block resulting in the replacement of normal hematopoiesis by a neoplastic proliferation of cells with a promyelocyte phenotype. Clinically, it was a very aggressive disease characterized by high frequency of early bleeding and thrombosis, as well as a rapidly fatal outcome in the absence of treatment.