Abstract
Mutations of isocitrate dehydrogenase 1 (IDH1) have recently been reported in acute myeloid leukemia (AML). However, the characteristics of IDH1-mutated AML are still not known clearly. We analyzed 416 Chinese AML patients and found 28 patients (6.7%) carried this mutation. One homozygous IDH1 mutant in AML was found. The IDH1 mutations were associated with NPM1 mutations (P=0.043) and could coexist with recurrent transcription factor aberrations including AML1-ETO (6/50), PML-RARα (3/77) and CBFβ-MYH11 (1/15). For AML with AML1-ETO fusion gene, IDH1(mut) patients may have worse disease-free survival (DFS) than IDH1(wild-type) patients.
Copyright © 2011 Elsevier Ltd. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Aged
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Asian People / genetics*
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Core Binding Factor Alpha 2 Subunit / genetics*
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Disease-Free Survival
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Female
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Genetic Linkage
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Genotype
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Heterozygote
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Homozygote
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Humans
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Isocitrate Dehydrogenase / genetics*
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Karyotyping
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Leukemia, Myeloid, Acute / diagnosis
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Leukemia, Myeloid, Acute / genetics*
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Leukemia, Myeloid, Acute / mortality
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Leukemia, Myeloid, Acute / pathology
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Male
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Middle Aged
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Mutation
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Nuclear Proteins / genetics
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Nucleophosmin
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Oncogene Proteins, Fusion / genetics*
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Polymerase Chain Reaction
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Prognosis
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RUNX1 Translocation Partner 1 Protein
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Recurrence
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Restriction Mapping
Substances
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AML1-ETO fusion protein, human
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CBFbeta-MYH11 fusion protein
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Core Binding Factor Alpha 2 Subunit
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NPM1 protein, human
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Nuclear Proteins
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Oncogene Proteins, Fusion
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RUNX1 Translocation Partner 1 Protein
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promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein
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Nucleophosmin
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Isocitrate Dehydrogenase