Genetics and transcriptomics of human acute erythroid leukemia

Acute erythroleukemia (AML-M6, FAB, AEL) is a rare but aggressive human disease with a poorly understood molecular pathogenesis. Previous studies showed that AEL leukemic blasts often have complex karyotypes with alterations of chromosome 5 being the most prevalent, and mutations in known AML-associated genes, but no AEL-specific mutations have yet been functionally validated. Here we report characterization of the genetic and transcriptional landscape in a series of 57 patients diagnosed with AEL. Identified genetic alterations indicate the existence of at least three molecular sub-groups composed of patients carrying 1-TP53 mutations (~1/3 of patients), 2-various combinations of mutations previously found in AML and MDS such as DNMT3A, TET2 or IDH2 (~1/3 of patients), and 3-none of these recurrent alterations.EGA study EGAS00001004203