title: Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14).
abstract: The t(4;14)(p16.3;q32) in multiple myeloma (MM) leads to an apparent deregulation of the FGFR3 and WHSC1/MMSET genes. FGFR3 mutations, known to be associated with genetic skeletal disorders, have also been identified in a few cases of MM (mainly cell lines) with t(4;14). We investigated FGFR3 mutations in a series of 53 MM cases; 11 cases with t(4;14) and FGFR3 overexpression were analysed using reverse transcription polymerase chain reaction, while the remaining cases were studied at DNA level. The Arg248Cys mutation, which is associated with some lethal forms of skeletal disorders, was found in one case with t(4;14). Our results indicate that FGFR3 mutations occur in only a small fraction of MM cases with t(4;14).
authors.affiliation: Servizio Ematologia, Dipartimento di Scienze Mediche, Università di Milano, Ospedale Maggiore di Milano, IRCCS, Milano, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Intini
authors.forename: L
authors.initials: L
authors.lastname: Baldini
authors.forename: S
authors.initials: S
authors.lastname: Fabris
authors.forename: L
authors.initials: L
authors.lastname: Lombardi
authors.forename: G
authors.initials: G
authors.lastname: Ciceri
authors.forename: A T
authors.initials: AT
authors.lastname: Maiolo
authors.forename: A
authors.initials: A
authors.lastname: Neri
mesh_terms: D002883:Chromosomes, Human, Pair 14; D002894:Chromosomes, Human, Pair 4; D004252:DNA Mutational Analysis; D006801:Humans; D009101:Multiple Myeloma / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3