title: 8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes.
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.
authors.affiliation: IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy. elena.belloni@ifom-ieo-campus.it
authors.forename: Elena
authors.initials: E
authors.lastname: Belloni
authors.forename: Maurizio
authors.initials: M
authors.lastname: Trubia
authors.forename: Patrizia
authors.initials: P
authors.lastname: Gasparini
authors.forename: Carla
authors.initials: C
authors.lastname: Micucci
authors.forename: Cinzia
authors.initials: C
authors.lastname: Tapinassi
authors.forename: Stefano
authors.initials: S
authors.lastname: Confalonieri
authors.forename: Paolo
authors.initials: P
authors.lastname: Nuciforo
authors.forename: Bruno
authors.initials: B
authors.lastname: Martino
authors.forename: Francesco
authors.initials: F
authors.lastname: Lo-Coco
authors.forename: Pier Giuseppe
authors.initials: PG
authors.lastname: Pelicci
authors.forename: Pier Paolo
authors.initials: PP
authors.lastname: Di Fiore
mesh_terms: D017209:Apoptosis / Q000235:genetics; D051017:Apoptosis Regulatory Proteins; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009196:Myeloproliferative Disorders / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010641:Phenotype; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*; D009218:Myosins
chemical_list: D051017:Apoptosis Regulatory Proteins; D002352:Carrier Proteins; D018995:Myosin Heavy Chains; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1; D017468:Receptors, Fibroblast Growth Factor; C407152:MYO18A protein, human; D009218:Myosins; C496348:FGFR1 protein, human