Abstract
The World Health Organization (WHO) classification of acute myeloid leukemia (AML) attempts to integrate the biologic aspects of AML derived from cytogenetic and molecular testing with a more conventional morphology-based system. A major area of emphasis in the 2016 revision of the WHO classification is on molecular genetics in cytogenetic normal AMLs (CN-AML). In this context, insight into the underlying causative driver mutations with concurrent genetic modifiers in acute myeloid leukemia, not otherwise specified (AML, NOS ), acute myeloid leukemia with myelodysplasia-related changes (AML-MRC), and therapy-related myeloid neoplasms (t-MNs), a large but genetically heterogeneous AML subtype accounting for over 50% of all AMLs, paves the way for a more precise classification for diagnostic and prognostic purposes. This chapter summarizes the diagnostic criteria; morphologic and immunophenotypic features; cytogenetic alterations in AML, NOS , AML-MRC, and t-MNs; molecular abnormalities identified in over 95% of CN-AMLs; molecular lesions enriched in secondary AMLs, including AML-MRC and t-MNs; as well as their clinical relevance, and the development of novel and more specific therapies targeting these disease-causing mutations.
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Li, P., Ohgami, R.S. (2018). Acute Myeloid Leukemia with Myelodysplasia-Related Changes, Therapy-Related Myeloid Neoplasms, and Acute Myeloid Leukemia, Not Otherwise Specified. In: Chang, CC., Ohgami, R. (eds) Precision Molecular Pathology of Myeloid Neoplasms. Molecular Pathology Library, vol 12. Springer, Cham. https://doi.org/10.1007/978-3-319-62146-3_3
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