Abstract
We identified two patients with a t(2;4)(p24;q12) and a t(4;12)(q2?3;p1?2), respectively, in association with BCR-ABL and FIP1L1-PDGFRA negative chronic eosinophilic leukaemia. Molecular analysis revealed a novel STRN-PDGFRA fusion for the t(2;4) and ETV6-PDGFRA for the t(4;12). The fusions were confirmed by specific amplification of the genomic breakpoints, reverse transcription polymerase chain reaction and fluorescence in situ hybridisation. Both patients were treated with imatinib and, following a rapid haematological response, achieved cytogenetic remission and a major molecular response. In conclusion, PDGFRA fuses to diverse partner genes in myeloid disorders. Identification of these fusions is important as they are particularly sensitive to imatinib.
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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Antineoplastic Agents / therapeutic use*
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Benzamides
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Calmodulin-Binding Proteins / genetics
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Chromosomes, Human, Pair 12
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Chromosomes, Human, Pair 2
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Chromosomes, Human, Pair 4
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ETS Translocation Variant 6 Protein
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Humans
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Hypereosinophilic Syndrome / drug therapy
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Hypereosinophilic Syndrome / genetics*
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Imatinib Mesylate
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In Situ Hybridization, Fluorescence
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Male
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Membrane Proteins / genetics
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Middle Aged
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Nerve Tissue Proteins / genetics
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Oncogene Fusion*
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Piperazines / therapeutic use*
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Proto-Oncogene Proteins c-ets / genetics
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Pyrimidines / therapeutic use*
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Receptor, Platelet-Derived Growth Factor alpha / genetics*
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Repressor Proteins / genetics
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Reverse Transcriptase Polymerase Chain Reaction
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Translocation, Genetic
Substances
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Antineoplastic Agents
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Benzamides
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Calmodulin-Binding Proteins
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Membrane Proteins
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Nerve Tissue Proteins
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Piperazines
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Proto-Oncogene Proteins c-ets
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Pyrimidines
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Repressor Proteins
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STRN protein, human
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Imatinib Mesylate
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Receptor, Platelet-Derived Growth Factor alpha