Abstract
Fusions of the ETV6/TEL gene to receptor or protein tyrosine kinases (TKs), such as PDGFRbeta, JAK2, ABL, ABL2, TRKC, and Syk, have been reported in various hematological malignancies. Expression of the resultant chimeric proteins is believed to lead to constitutive TK activity through activation by the helix-loop-helix (HLH) domain of ETV6. We identified a novel ETV6 partner gene, fibroblast growth factor receptor 3 (FGFR3), in a patient with peripheral T-cell lymphoma (PTCL) with a t(4;12)(p16;p13) translocation. The ETV6-FGFR3 transcript showed a fusion of exon 5 of ETV6 to exon 10 of FGFR3, resulting in an open reading frame for a chimeric protein consisting of the HLH domain of ETV6 and the TK domains of FGFR3. This is the first report of ETV6 and FGFR3 involvement in PTCL.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Chromosomes, Human, Pair 12*
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Chromosomes, Human, Pair 4*
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DNA-Binding Proteins / genetics*
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ETS Translocation Variant 6 Protein
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Female
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Humans
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In Situ Hybridization, Fluorescence
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Lymphoma, T-Cell / genetics*
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Middle Aged
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Molecular Sequence Data
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Oncogene Proteins, Fusion / genetics*
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Protein-Tyrosine Kinases*
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Proto-Oncogene Proteins c-ets
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Receptor, Fibroblast Growth Factor, Type 3
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Receptors, Fibroblast Growth Factor / genetics*
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Recombinant Fusion Proteins / 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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DNA-Binding Proteins
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ETV6-FGFR3 protein, human
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Oncogene Proteins, Fusion
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Proto-Oncogene Proteins c-ets
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Receptors, Fibroblast Growth Factor
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Recombinant Fusion Proteins
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Repressor Proteins
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FGFR3 protein, human
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Protein-Tyrosine Kinases
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Receptor, Fibroblast Growth Factor, Type 3