title: Novel Philadelphia variant t(Y;9;22)(q12;q34;q11) in a case of chronic myeloid leukemia.
abstract: A novel Philadelphia (Ph) variant translocation, t(Y;9;22)(q12;q34;q11), was detected in a 63-year-old man with a newly diagnosed chronic myeloid leukemia (CML). Reverse transcription polymerase chain reaction (RT-PCR) analysis revealed a b3a2 fusion transcript. Fluorescence in situ hybridization (FISH) utilizing library probes, subtelomeric cosmid probes, and probes hybridizing to the ABL and BCR genes showed a reciprocal three-way translocation involving Yq12, 9q34, and 22q11, and a BCR-ABL fusion signal on der(22). The subtelomeric Yq probe hybridizing centromerically to the IL9 receptor gene and covering the centromeric portion of the SYBL1 gene was found to be translocated to der(9).
authors.affiliation: Department of Oncology and Haematology, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Dierlamm
authors.forename: L
authors.initials: L
authors.lastname: Michaux
authors.forename: M
authors.initials: M
authors.lastname: Stefanova
authors.forename: J
authors.initials: J
authors.lastname: Eggert
authors.forename: P
authors.initials: P
authors.lastname: Leberecht
authors.forename: D
authors.initials: D
authors.lastname: Seeger
authors.forename: M
authors.initials: M
authors.lastname: Westerhausen
authors.forename: D K
authors.initials: DK
authors.lastname: Hossfeld
mesh_terms: D000328:Adult; D000368:Aged; D001854:Bone Marrow Cells / Q000378:metabolism / Q000473:pathology; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010677:Philadelphia Chromosome; D014998:Y Chromosome / Q000235:genetics
chemical_list: D016044:Fusion Proteins, bcr-abl