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English8p11 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
8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes / E. Belloni, M. Trubia, P. Gasparini, C. Micucci, C. Tapinassi, S. Confalonieri, P. Nuciforo, B. Martino, F. Lo-Coco, P.G. Pelicci, P.P. Di Fiore. - In: GENES, CHROMOSOMES & CANCER. - ISSN 1045-2257. - 42:3(2005 Mar), pp. 320-325.
| Titolo: | 8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes | |
| Autori: | PELICCI, PIER GIUSEPPE (Penultimo) DI FIORE, PIER PAOLO (Ultimo) | |
| Parole Chiave: | 8p11 myeloproliferative syndrome ; RNA translation ; Adult ; Article ; Case report ; Chromosome 8p ; Chromosome translocation 7 ; Clinical feature ; Correlation analysis ; Wnzyme activity ; Female ; Gene rearrangement ; Genotype ; Human ; Leukocyte count ; Myeloproliferative disorder ; Nucleotide sequence ; Phenotype ; Priority journal ; Reverse transcription polymerase chain reaction ; Symptom ; Fibroblast growth factor receptor 1 ; Gene product ; Hybrid protein ; Protein tif1 ; Unclassified drug | |
| Settore Scientifico Disciplinare: | Settore MED/04 - Patologia Generale | |
| Data di pubblicazione: | mar-2005 | |
| Rivista: | ||
| Tipologia: | Article (author) | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1002/gcc.20144 | |
| Appare nelle tipologie: | 01 - Articolo su periodico |
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