title: A novel BCR-ABL rearrangement in a Philadelphia chromosome-positive chronic myelogenous leukaemia variant with thrombocythaemia.
abstract: Reverse transcription polymerase chain reaction was used to detect an unusual BCR/ABL transcript in a patient who presented with thrombocythaemia and was Philadelphia chromosome positive but weakly reactive to conventional BCR/ABL fusion probes. Sequencing revealed the presence of a 12 bp insert between BCR exon2 (b2) and ABL exon2 (a2). In such cases the use of conventional BCR/ABL probes may lead to false negative results. This is the first report of this transcript. Clinically the patient has responded well to therapy.
authors.affiliation: Department of Haematology, University of Cape Town, South Africa.
authors.forename: R
authors.initials: R
authors.lastname: Rubinstein
authors.forename: L R
authors.initials: LR
authors.lastname: Purves
mesh_terms: D000328:Adult; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D013920:Thrombocythemia, Essential / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D016044:Fusion Proteins, bcr-abl