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Acute erythroid leukemia (AEL) is an acute leukemia characterized by erythroid lineage transformation. The World Health Organization (WHO) 2008 classification recognized two subtypes of AEL: bilineage erythroleukemia (erythroid/myeloid leukemia) and pure erythroid leukemia. The erythroleukemia subtype was removed in the updated 2016 WHO classification, with about half of cases reclassified as myelodysplastic syndrome (MDS) and half as acute myeloid leukemia (AML). Diagnosis and classification are currently based on morphology using standard blast cutoffs, without integration of underlying genomic and other molecular features. Key outstanding questions are therefore whether AEL can be accurately diagnosed based solely on morphology or whether genetic or other molecular criteria should be included in its classification, and whether considering AEL as an entity distinct from AML and MDS is clinically relevant. We discuss recent work on the molecular basis of AEL, including the identification of mutations causative of AEL and of transcriptional and epigenetic features that can be used to distinguish AEL from MDS and nonerythroid AML, and the prognostic value of these molecular features.

Original publication




Journal article


Exp Hematol

Publication Date





6 - 13


Animals, Epigenesis, Genetic, Erythroid Cells, Gene Expression Regulation, Leukemic, Humans, Leukemia, Erythroblastic, Acute, Leukemia, Myeloid, Acute, Mutation, Myelodysplastic Syndromes