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 TIFI gene. We show that both the TIFI-FGFR1 and FGFR1-TIFI 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.

Belloni, E., Trubia, M., Gasparini, P., Micucci, C., Tapinassi, C., Confalonieri, S., et al. (2005). 8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes. GENES, CHROMOSOMES & CANCER, 42(3), 320-325 [10.1002/gcc.20144].

8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes

LO COCO, FRANCESCO;
2005-01-01

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 TIFI gene. We show that both the TIFI-FGFR1 and FGFR1-TIFI 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.
2005
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/05 - PATOLOGIA CLINICA
English
Senza Impact Factor ISI
fibroblast growth factor receptor 1; gene product; hybrid protein; protein tif1; unclassified drug; 8p11 myeloproliferative syndrome; adult; article; case report; chromosome 8p; chromosome translocation 7; clinical feature; correlation analysis; enzyme activity; female; gene rearrangement; genotype; human; leukocyte count; myeloproliferative disorder; nucleotide sequence; phenotype; priority journal; reverse transcription polymerase chain reaction; RNA translation; symptom; apoptosis; base sequence; carrier proteins; chromosomes, human, pair 7; pair 8; female; genotype; humans; middle aged; molecular sequence data; myeloproliferative disorders; myosin heavy chains; oncogene proteins, fusion; phenotype; receptor protein-tyrosine kinases; receptor, fibroblast growth factor; type 1; syndrome; translocation
http://onlinelibrary.wiley.com/doi/10.1002/gcc.20144/pdf
Belloni, E., Trubia, M., Gasparini, P., Micucci, C., Tapinassi, C., Confalonieri, S., et al. (2005). 8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes. GENES, CHROMOSOMES & CANCER, 42(3), 320-325 [10.1002/gcc.20144].
Belloni, E; Trubia, M; Gasparini, P; Micucci, C; Tapinassi, C; Confalonieri, S; Nuciforo, P; Martino, B; LO COCO, F; Pelicci, P; Di Fiore, P
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/8019
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