title: Simple variant t(8;21) acute myeloid leukemias harbor insertions of the AML1 or ETO genes.
abstract: We report on the molecular characterization of two acute myeloid leukemias (AML), one AML-M1 (patient 1) and one AML-M2 (patient 2) with t(8;21)(p21;q22) and t(8;20)(q22;p13), respectively, at diagnosis. The locations of the breakpoints, 21q22 in patient 1 and 8q22 in patient 2, prompted us to search for a cryptic t(8;21)(q22;q22) and involvement of the AML1 and ETO genes. Dual-color fluorescence in situ hybridization (FISH) using whole chromosome painting probes for chromosomes 8, 20, and 21 confirmed the conventional cytogenetic karyotypes. However, dual-color FISH using appropriate ETO and AML1 probes disclosed an insertion of AML1 into 8q22 on the derivative chromosome 8 in patient 1 and of ETO into 21q22 on one chromosome 21 in patient 2, leading to AML1-ETO fusion signals. Both cases expressed an AML1-ETO transcript, shown by reverse transcriptase polymerase chain reaction and cDNA sequencing. Creation of functional AML1-ETO fusion genes in these two simple variant t(8;21) probably occurred through complex mechanisms, combining translocation and insertion of chromosomal segments.
authors.affiliation: CNRS-IGH, Montpellier, France.
authors.forename: S
authors.initials: S
authors.lastname: Taviaux
authors.forename: V
authors.initials: V
authors.lastname: Brunel
authors.forename: M
authors.initials: M
authors.lastname: Dupont
authors.forename: F
authors.initials: F
authors.lastname: Fernandez
authors.forename: C
authors.initials: C
authors.lastname: Ferraz
authors.forename: N
authors.initials: N
authors.lastname: Carbuccia
authors.forename: D
authors.initials: D
authors.lastname: Sainty
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: F
authors.initials: F
authors.lastname: Birg
authors.forename: M
authors.initials: M
authors.lastname: Lafage-Pochitaloff
mesh_terms: D000293:Adolescent; D000328:Adult; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D015514:Oncogene Proteins, Fusion; D000075142:RUNX1 Translocation Partner 1 Protein; D011993:Recombinant Fusion Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: C107844:AML1-ETO fusion protein, human; D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; D000075142:RUNX1 Translocation Partner 1 Protein; D011993:Recombinant Fusion Proteins; D014157:Transcription Factors