title: Chromosome 16 inversion-associated translocations in acute myeloid leukemia elucidated using a dual-color CBFB DNA probe.
abstract: We describe two cases of acute myelomonocytic leukemia with eosinophilia (AML-M4Eo) that were diagnosed with an inv(16)(p13q22) based on conventional cytogenetics (CC) and fluorescence in situ hybridization (FISH) technique using a chromosome 16p arm specific paint probe. Additional FISH analysis with a dual-color CBFB DNA probe showed that the 3' portion of the CBFB gene was translocated to chromosome 10p13 in the first patient and 1p36 in the other. These two cases indicate that some inv(16)(p13q22) identified by CC and FISH with chromosome arm-specific painting probe may represent cases of inversion-associated translocation. We suggest that all cases with inv(16)(p13q22) should be investigated by FISH with appropriate probes for a possible translocation of 16q22-->qter to another chromosome.
authors.affiliation: Department of Hematology, University Hospital Sant Pau, Barcelona, Spain. aaventin@hsp.santpau.es
authors.forename: Anna
authors.initials: A
authors.lastname: Aventín
authors.forename: Montserrat
authors.initials: M
authors.lastname: Espadaler
authors.forename: Sílvia
authors.initials: S
authors.lastname: Casas
authors.forename: José
authors.initials: J
authors.lastname: Duarte
authors.forename: Josep
authors.initials: J
authors.lastname: Nomdedéu
authors.forename: Jorge
authors.initials: J
authors.lastname: Sierra
mesh_terms: D000328:Adult; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003116:Color; D050658:Core Binding Factor beta Subunit; D015342:DNA Probes / Q000235:genetics / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D050656:Transcription Factor AP-2; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: C493692:CBFB protein, human; D050658:Core Binding Factor beta Subunit; D015342:DNA Probes; D004268:DNA-Binding Proteins; D050656:Transcription Factor AP-2; D014157:Transcription Factors