title: Mutations of AML1 in non-M0 acute myeloid leukemia: six novel mutations and a high incidence of cooperative events in a South-east Asian population.
abstract: Point mutations of AML1 are uncommon and predominantly reported in a rare minimally differentiated acute myeloid leukemia (M0 AML). Few data exist regarding the frequency of AML1 mutations in non-M0 cases. We screened 284 consecutive adult Thai patients with de novo AML and found that 3.9% had AML1 mutations. The highest incidence occurred in M6. Six novel mutations were uniquely identified in non-M0 cases. Sixty-four percent of the non-M0 patients with AML1 mutations had coexisting genetic abnormalities including FLT3 mutation in 36%. Our study provides evidence to support the model of multiple co-operating events, which could also be critical in the development of leukemia in non-M0 AML patients with mutated AML1. The prognostic significance of these novel mutations remains to be determined.
authors.affiliation: Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Chulabhorn Cancer Centre, Bangkok, Thailand. sicaw@mahidol.ac.th
authors.forename: Chirayu U
authors.initials: CU
authors.lastname: Auewarakul
authors.forename: Amporn
authors.initials: A
authors.lastname: Leecharendkeat
authors.forename: Wanna
authors.initials: W
authors.lastname: Thongnoppakhun
authors.forename: Chanin
authors.initials: C
authors.lastname: Limwongse
authors.forename: Chintana
authors.initials: C
authors.lastname: Tocharoentanaphol
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D001210:Asia, Southeastern / Q000453:epidemiology; D002471:Cell Transformation, Neoplastic / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D007951:Leukemia, Myeloid / Q000145:classification / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009154:Mutation; D010641:Phenotype; D017510:Protein Folding; D017434:Protein Structure, Tertiary; D022821:RNA Splice Sites / Q000235:genetics; D013785:Thailand / Q000453:epidemiology
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D004273:DNA, Neoplasm; D022821:RNA Splice Sites; C493728:RUNX1 protein, human