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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Female
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Fusion Proteins, bcr-abl / genetics*
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Gene Rearrangement
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Humans
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Karyotyping
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive / complications*
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive / diagnosis
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology*
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Nucleic Acid Hybridization
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Polymerase Chain Reaction
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Thrombocythemia, Essential / complications*
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Thrombocythemia, Essential / diagnosis
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Thrombocythemia, Essential / genetics*
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Transcription, Genetic