Abstract
Acute myeloid leukemia (AML) is the most common acute leukemia diagnosed in adults, and the majority of patients with AML die from relapsed disease. Although many studies over the past 4 decades have identified disease alleles in AML, recent genome-wide and candidate gene studies have identified additional recurrent somatic mutations in AML patients with biologic, clinical, and therapeutic importance. Herein we review our current understanding of the molecular pathogenesis of AML and discuss how mutational profiling can be used to refine prognostication in AML and to inform therapeutic approaches. We also review the current challenges in translating genomic studies to the clinical setting, which remains a significant challenge and an urgent priority.
MeSH terms
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Alleles
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Animals
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Carrier Proteins / genetics
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DNA (Cytosine-5-)-Methyltransferases / genetics
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DNA Methyltransferase 3A
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DNA Mutational Analysis
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DNA-Binding Proteins / genetics
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Daunorubicin / pharmacology
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Dioxygenases
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Genetic Markers / genetics*
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Genome-Wide Association Study
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Genomics
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Hematology / methods*
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Humans
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Isocitrate Dehydrogenase / genetics
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Leukemia, Myeloid, Acute / diagnosis*
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Leukemia, Myeloid, Acute / genetics*
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Leukemia, Myeloid, Acute / therapy*
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Medical Oncology / methods
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Mice
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Models, Genetic
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Mutation*
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Proto-Oncogene Proteins / genetics
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Repressor Proteins / genetics
Substances
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ASXL1 protein, human
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Carrier Proteins
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DNA-Binding Proteins
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DNMT3A protein, human
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Genetic Markers
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PHF6 protein, human
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Proto-Oncogene Proteins
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Repressor Proteins
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IDH2 protein, human
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Isocitrate Dehydrogenase
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IDH1 protein, human
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Dioxygenases
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TET2 protein, human
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DNA (Cytosine-5-)-Methyltransferases
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DNA Methyltransferase 3A
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Daunorubicin