title: Amplification of the BCR/ABL fusion gene clustered on a masked Philadelphia chromosome in a patient with myeloblastic crisis of chronic myelocytic leukemia.
abstract: Although the chronic phase of chronic myelocytic leukemia (CML) is characterized by the Philadelphia (Ph) chromosome creating a hybrid BCR/ABL gene, additional genetic changes involved in blast crisis are poorly understood. We report a 4-8-fold amplification by tandem duplication of the BCR/ABL fusion gene clustered on a masked Ph chromosome in a 61-year-old male patient with CML in myeloblastic crisis. Our finding suggests that the BCR/ABL amplification may play a role as a novel mechanism in the progression to an aggressive blast transformation in some cases of Ph-positive CML.
authors.affiliation: Departamento de Genética, Academia Nacional de Medicina de Buenos Aires, Buenos Aires, Argentina.
authors.forename: Patricia M
authors.initials: PM
authors.lastname: Gargallo
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Cuello
authors.forename: Pedro Negri
authors.initials: PN
authors.lastname: Aranguren
authors.forename: Irene B
authors.initials: IB
authors.lastname: Larripa
mesh_terms: D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D005784:Gene Amplification; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D005810:Multigene Family / Q000235:genetics*; D010677:Philadelphia Chromosome
chemical_list: D016044:Fusion Proteins, bcr-abl