Abstract
8p11 myeloproliferative syndrome (EMS) is a clinical-pathologic entity characterized by rearrangements involving the FGFR1 gene, which encodes a receptor tyrosine kinase. These rearrangements invariably lead to aberrant fusion proteins in which the kinase activity is constitutively turned on, with resulting oncogenic properties. In this article, we describe a new translocation in EMS, t(7;8)(q34;p11), in which the FGFR1 gene is fused to a previously unidentified partner, the TIF1 gene. We show that both the TIF1-FGFR1 and FGFR1-TIF1 fusion proteins have the potential to be translated as a result of the translocation. Thus, our data extend the involvement of FGFR1 in EMS and lend support to the concept that there is a precise correlation between genotype and phenotype in this disease.
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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Apoptosis / genetics
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Apoptosis Regulatory Proteins
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Base Sequence
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Carrier Proteins / genetics*
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Chromosomes, Human, Pair 7 / genetics*
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Chromosomes, Human, Pair 8 / genetics*
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Female
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Genotype
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Humans
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Middle Aged
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Molecular Sequence Data
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Myeloproliferative Disorders / genetics*
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Myosin Heavy Chains / genetics*
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Nuclear Proteins
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Oncogene Proteins, Fusion / genetics*
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Phenotype
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Receptor Protein-Tyrosine Kinases / genetics*
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Receptor, Fibroblast Growth Factor, Type 1
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Receptors, Fibroblast Growth Factor / genetics*
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Syndrome
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Translocation, Genetic / genetics*
Substances
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Apoptosis Regulatory Proteins
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Carrier Proteins
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Nuclear Proteins
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Oncogene Proteins, Fusion
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Receptors, Fibroblast Growth Factor
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TIAF1 protein, human
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FGFR1 protein, human
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Receptor Protein-Tyrosine Kinases
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Receptor, Fibroblast Growth Factor, Type 1
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Myosin Heavy Chains