Abstract
We describe a new PDGFRB fusion associated with a t(5;14)(q33;q24) in a patient with a longstanding chronic myeloproliferative disorder with eosinophilia. After confirmation of PDGFRB involvement and definition of the chromosome 14 breakpoint by fluorescence in situ hybridization, candidate partner genes were selected on the basis of the presence of predicted oligomerization domains believed to be an essential feature of tyrosine kinase fusion proteins. We demonstrate that the t(5;14) fuses PDGFRB to NIN, a gene encoding a centrosomal protein with CEP110-like function. After treatment with imatinib, the patient achieved hematological and cytogenetical remission, but NIN-PDGFRB mRNA remained detectable by reverse transcription-PCR.
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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Antineoplastic Agents / therapeutic use*
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Base Sequence
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Benzamides
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Chromosomes, Human, Pair 14 / genetics
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Chromosomes, Human, Pair 5 / genetics
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Gene Rearrangement
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Humans
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Imatinib Mesylate
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In Situ Hybridization, Fluorescence
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Male
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Molecular Sequence Data
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Myeloproliferative Disorders / drug therapy*
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Myeloproliferative Disorders / genetics*
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Oncogene Proteins, Fusion / genetics*
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Piperazines / therapeutic use*
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Pyrimidines / therapeutic use*
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Receptor Protein-Tyrosine Kinases / genetics*
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Receptor, Fibroblast Growth Factor, Type 1
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Receptor, Platelet-Derived Growth Factor beta / 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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Oncogene Proteins, Fusion
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Piperazines
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Pyrimidines
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Imatinib Mesylate
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Receptor Protein-Tyrosine Kinases
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Receptor, Fibroblast Growth Factor, Type 1
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Receptor, Platelet-Derived Growth Factor beta
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CEP110-FGFR1 fusion protein, human