title: Variant acute promyelocytic leukemia translocation (15;17) originating from two subsequent balanced translocations involving the same chromosomes 15 and 17 while preserving the PML/RARA fusion.
abstract: Fluorescence in situ hybridization (FISH) analysis of the bone marrow of a 24-year-old man diagnosed with acute promyelocytic leukemia (APL) revealed a variant pattern with one fusion signal instead of the typical two fusions expected with the probe set used. The combined FISH and conventional chromosome analyses suggested that two subsequent translocations had occurred in this patient involving the same chromosomes 15 and 17. As the prognostic outcome in APL is strictly associated with the presence of a PML/RARA fusion, it is useful and necessary to perform both cytogenetic and FISH analyses of a variant t(15;17) to determine the status of the PML/RARA fusion.
authors.affiliation: Laboratory of Cytogenetics, Quest Diagnostics Nichols Institute, 14225 Newbrook Drive, Chantilly, VA 20151, USA.
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Tirado
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Jahn
authors.forename: Jay
authors.initials: J
authors.lastname: Scheerle
authors.forename: Maya
authors.initials: M
authors.lastname: Eid
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Meister
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Christie
authors.forename: Calvin D
authors.initials: CD
authors.lastname: Croft
authors.forename: Steven
authors.initials: S
authors.lastname: Wallingford
authors.forename: Deborah W
authors.initials: DW
authors.lastname: Heritage
authors.forename: Philip N
authors.initials: PN
authors.lastname: Mowrey
authors.forename: Aurelia M
authors.initials: AM
authors.lastname: Meloni-Ehrig
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D014178:Translocation, Genetic / Q000235:genetics*; D014407:Tumor Cells, Cultured
chemical_list: D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein