1. A novel BCR-ABL rearrangement in a Philadelphia chromosome-positive chronic myelogenous leukaemia variant with thrombocythaemia
- Author
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Rubinstein R and Purves Lr
- Subjects
Adult ,Cancer Research ,medicine.medical_specialty ,Transcription, Genetic ,Fusion Proteins, bcr-abl ,Chromosomal translocation ,Biology ,Philadelphia chromosome ,Polymerase Chain Reaction ,Leukemia, Myelogenous, Chronic, BCR-ABL Positive ,hemic and lymphatic diseases ,medicine ,Humans ,Gene Rearrangement ,ABL ,Philadelphia Chromosome Positive ,breakpoint cluster region ,Cytogenetics ,Nucleic Acid Hybridization ,Hematology ,Gene rearrangement ,medicine.disease ,Reverse transcription polymerase chain reaction ,Oncology ,Karyotyping ,Cancer research ,Female ,Thrombocythemia, Essential - 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.
- Published
- 1998
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