title: Are aberrant BCR--ABL transcripts more common than previously thought?
abstract: We report the use of multiplex polymerase chain reaction (PCR), using 4% polyacrylamide gel electrophoresis (PAGE) for the detection of BCR-ABL transcripts in Philadelphia-positive disease. Three out of 50 cases [two out of 37 chronic myeloid leukaemia (CML), one out of 13 acute lymphoblastic leukaemia (ALL)] possessed rare breakpoints; an e19a2 and e13a3 in CML and an e1a3 in the ALL. We suggest that multiplex PCR using 4% PAGE and optimized for smaller transcript detection may lead to a higher detection rate of rare BCR-ABL breakpoints. Multiplex PCR, however, failed to distinguish e13a2 from e1a3 transcripts. Finally, the presence of e13a3 in CML supports the view that abl exon 2 sequences are unnecessary for the pathogenesis of 'classic' CML.
authors.affiliation: Molecular Haematology Unit, Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK.
authors.forename: G A
authors.initials: GA
authors.lastname: Wilson
authors.forename: E A
authors.initials: EA
authors.lastname: Vandenberghe
authors.forename: R C
authors.initials: RC
authors.lastname: Pollitt
authors.forename: D C
authors.initials: DC
authors.lastname: Rees
authors.forename: A C
authors.initials: AC
authors.lastname: Goodeve
authors.forename: I R
authors.initials: IR
authors.lastname: Peake
authors.forename: J T
authors.initials: JT
authors.lastname: Reilly
mesh_terms: D019457:Chromosome Breakage; D004591:Electrophoresis, Polyacrylamide Gel; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D010641:Phenotype; D010677:Philadelphia Chromosome; D016133:Polymerase Chain Reaction / Q000379:methods; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*
chemical_list: D016044:Fusion Proteins, bcr-abl