title: Identification of ins(8;21) with AML1/ETO fusion in acute myelogenous leukemia M2 by molecular cytogenetics.
abstract: A high percentage of cases of acute myelogenous leukemia (AML) of the M2 subtype show a rearrangement between the AML1 and ETO genes. The detection of the AML1/ETO fusion has clinical relevance because patients with this subtype have a good prognosis. We present the results of conventional and molecular cytogenetic studies in a patient with acute myelogenous leukemia French-American-British M2 classification, who had a complex karyotype involving chromosomes 8 and 21. Dual-color fluorescence in situ hybridization (FISH) using the AML1/ETO probe demonstrated a recombination of both genes on an add(8) chromosome. The use of other FISH probes (CEP8, c-myc and TEL21) and spectral karyotyping indicated that AML1/ETO fusion occurred as a consequence of a previously undescribed ins(8;21)(q22;q22.1q22.3).
authors.affiliation: Departamento de Genética Humana, Programa de Patología Molecular, Centro Nacional de Investigaciones Oncológicas, Instituto de Salud Carlos III, Madrid, Spain. murioste@cnio.es
authors.forename: M
authors.initials: M
authors.lastname: Urioste
authors.forename: A
authors.initials: A
authors.lastname: Martínez-Ramírez
authors.forename: J C
authors.initials: JC
authors.lastname: Cigudosa
authors.forename: M S
authors.initials: MS
authors.lastname: Mateo
authors.forename: P
authors.initials: P
authors.lastname: Martínez
authors.forename: T
authors.initials: T
authors.lastname: Contra
authors.forename: J
authors.initials: J
authors.lastname: Benítez
mesh_terms: D002648:Child; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D050676:Core Binding Factor Alpha 2 Subunit; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000503:physiopathology; D015514:Oncogene Proteins, Fusion / Q000032:analysis / Q000235:genetics*; D011379:Prognosis; D000075142:RUNX1 Translocation Partner 1 Protein; D014157:Transcription Factors / Q000032:analysis / 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; D014157:Transcription Factors