The genomic landscape of acute myeloid leukemia: Redefining classifications, ontogeny, and therapeutic strategies

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Abstract

Over the past decades, the progressive identification of chromosomal abnormalities and gene mutations has transformed acute myeloid leukemia (AML) from a morphologically defined disease into a genetically stratified malignancy. The coexistence and competition of multiple mutations within leukemic clones underscore the complexity of AML and the need for therapeutic strategies that address clonal interference and mutational synergy. Molecular profiling now offers a more accurate definition of AML ontogeny, surpassing clinical history and revealing biologically and prognostically distinct subtypes. At the same time, new classifications focusing on genetic characteristics have enabled a more coherent and clinically meaningful categorization of the disease. These advances have contributed directly to risk stratification and treatment selection, and thus to more appropriate management.

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Duployez, N., & Preudhomme, C. (2025). The genomic landscape of acute myeloid leukemia: Redefining classifications, ontogeny, and therapeutic strategies. Seminars in Hematology, 62(3), 141–154. https://doi.org/10.1053/j.seminhematol.2025.06.001

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