title: Duplication and triplication of der(21)t(8;21)(q22;q22) in acute myeloid leukemia.
abstract: We report on two patients with complicons resulting in duplication der(21)t(8;21)(q22;q22), triplication in the form of isochromosome of der(21)t(8;21), and four copies of ETO-AML1 fusion. Duplication of der(21) was present at diagnosis as a minor cell population in one patient, while the presence of isoderivative (21)t(8;21) characterized the relapse cells of the second patient. Due to the rarity of these cases, literature search of other reported cases of complicons may be taken as evidence that duplication and triplication of ETO-AML1 may be a poor prognostic indicator, regardless of whether it is present at diagnosis or relapse.
authors.affiliation: Tumor Cytogenetics Laboratory, The Mount Sinai School of Medicine, 1 Gustave L. Levy Place, New York, NY 1002, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Mikulasovich
authors.forename: Amanda
authors.initials: A
authors.lastname: LeBlanc
authors.forename: Angela
authors.initials: A
authors.lastname: Scalise
authors.forename: Deepa
authors.initials: D
authors.lastname: Manwani
authors.forename: Alla
authors.initials: A
authors.lastname: Keyzner
authors.forename: Vesna
authors.initials: V
authors.lastname: Najfeld
mesh_terms: D000293:Adolescent; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000276:immunology; D011518:Proto-Oncogene Proteins / Q000235:genetics; D000075142:RUNX1 Translocation Partner 1 Protein; D012074:Remission Induction; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; D011518:Proto-Oncogene Proteins; D000075142:RUNX1 Translocation Partner 1 Protein; C493728:RUNX1 protein, human; C082222:RUNX1T1 protein, human; D014157:Transcription Factors