title: A rare, in-frame BCR-ABL fusion (e13a3) in a patient with an aggressive chronic myeloid leukaemia.
abstract: We have identified a rare BCR-ABL chimaeric gene with multiplex and nested RT-PCR in a patient with an unusually aggressive chronic myeloid leukaemia. cDNA sequencing showed an in-frame rearrangement with a breakpoint in BCR exon e13 (b2) and fusion with ABL exon 3 following skipping of the entire ABL exon a2. These data confirm the heterogeneity of breakpoints in BCR-ABL rearrangements.
authors.affiliation: Division de Genética, Instituto Nacional de Câncer, Universidade Federal do Rio de Janeiro, Brazil. genetics@inca.org.broriotazu@ufrj.br
authors.forename: Ivone B
authors.initials: IB
authors.lastname: Otazú
authors.forename: María
authors.initials: M
authors.lastname: Belén Rivero
authors.forename: Renata
authors.initials: R
authors.lastname: Olício
authors.forename: Augusto
authors.initials: A
authors.lastname: Pinto
authors.forename: Ilana
authors.initials: I
authors.lastname: Zalcberg
authors.forename: Héctor N
authors.initials: HN
authors.lastname: Seuánez
mesh_terms: D000328:Adult; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008297:Male; D014178:Translocation, Genetic
chemical_list: D016044:Fusion Proteins, bcr-abl