title: Amplification of BCR-ABL rearrangement in atypical Philadelphia chromosome: a new variant detected by fluorescence in situ hybridization in one case of acute lymphoblastic leukemia.
abstract: We report on a 67-year-old woman with acute lymphoblastic leukemia (ALL) who was supposed to have a variant Philadelphia (Ph) translocation identified by conventional cytogenetic techniques. Fluorescence in situ hybridization (FISH) analysis demonstrated the presence of an amplification of BCR-ABL rearrangement at locus 22q11. This is the first observation, to our knowledge, of a duplicated BCR-ABL chimeric gene within the derived chromosome 22 in ALL. Our observation supports the possibility of detecting a variant Ph chromosome at the single-cell level by FISH analysis.
authors.affiliation: Département d'Hématologie-Immunologie-Cytogénétique, Centre Hospitalier de Valenciennes, France.
authors.forename: S
authors.initials: S
authors.lastname: Poulain
authors.forename: A
authors.initials: A
authors.lastname: Daudignon
authors.forename: F
authors.initials: F
authors.lastname: Le Baron
authors.forename: H
authors.initials: H
authors.lastname: Bisiau
authors.forename: M
authors.initials: M
authors.lastname: Simon
authors.forename: P
authors.initials: P
authors.lastname: Duthilleul
mesh_terms: D000368:Aged; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D010677:Philadelphia Chromosome; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy / Q000235:genetics*