title: Some novel features of IDH1-mutated acute myeloid leukemia revealed in Chinese patients.
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.
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, PR China.
authors.forename: Yiqun
authors.initials: Y
authors.lastname: Zhang
authors.forename: Hui
authors.initials: H
authors.lastname: Wei
authors.forename: Min
authors.initials: M
authors.lastname: Wang
authors.forename: Lei
authors.initials: L
authors.lastname: Huai
authors.forename: Yingchang
authors.initials: Y
authors.lastname: Mi
authors.forename: Yizhi
authors.initials: Y
authors.lastname: Zhang
authors.forename: Dong
authors.initials: D
authors.lastname: Lin
authors.forename: Bingcheng
authors.initials: B
authors.lastname: Liu
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Chunlin
authors.initials: C
authors.lastname: Zhou
authors.forename: Qing
authors.initials: Q
authors.lastname: Rao
authors.forename: Jianxiang
authors.initials: J
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D018572:Disease-Free Survival; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D000090243:Nucleophosmin; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011379:Prognosis; D000075142:RUNX1 Translocation Partner 1 Protein; D012008:Recurrence; D015183:Restriction Mapping
chemical_list: C107844:AML1-ETO fusion protein, human; C095514:CBFbeta-MYH11 fusion protein; D050676:Core Binding Factor Alpha 2 Subunit; C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D000075142:RUNX1 Translocation Partner 1 Protein; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein; D000090243:Nucleophosmin; D007521:Isocitrate Dehydrogenase