title: NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder.
abstract: We describe a new PDGFRB fusion associated with a t(5;14)(q33;q24) in a patient with a longstanding chronic myeloproliferative disorder with eosinophilia. After confirmation of PDGFRB involvement and definition of the chromosome 14 breakpoint by fluorescence in situ hybridization, candidate partner genes were selected on the basis of the presence of predicted oligomerization domains believed to be an essential feature of tyrosine kinase fusion proteins. We demonstrate that the t(5;14) fuses PDGFRB to NIN, a gene encoding a centrosomal protein with CEP110-like function. After treatment with imatinib, the patient achieved hematological and cytogenetical remission, but NIN-PDGFRB mRNA remained detectable by reverse transcription-PCR.
authors.affiliation: Department of Genetics, University of Navarra, Pamplona, Spain. jlvizmanos@unav.es
authors.forename: José L
authors.initials: JL
authors.lastname: Vizmanos
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Novo
authors.forename: José P
authors.initials: JP
authors.lastname: Román
authors.forename: E Joanna
authors.initials: EJ
authors.lastname: Baxter
authors.forename: Idoya
authors.initials: I
authors.lastname: Lahortiga
authors.forename: María J
authors.initials: MJ
authors.lastname: Larráyoz
authors.forename: María D
authors.initials: MD
authors.lastname: Odero
authors.forename: Pilar
authors.initials: P
authors.lastname: Giraldo
authors.forename: María J
authors.initials: MJ
authors.lastname: Calasanz
authors.forename: Nicholas C P
authors.initials: NC
authors.lastname: Cross
mesh_terms: D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use*; D001483:Base Sequence; D001549:Benzamides; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D015321:Gene Rearrangement; D006801:Humans; D000068877:Imatinib Mesylate; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008969:Molecular Sequence Data; D009196:Myeloproliferative Disorders / Q000188:drug therapy* / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010879:Piperazines / Q000627:therapeutic use*; D011743:Pyrimidines / Q000627:therapeutic use*; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D015514:Oncogene Proteins, Fusion; D010879:Piperazines; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1; D020797:Receptor, Platelet-Derived Growth Factor beta; C405614:CEP110-FGFR1 fusion protein, human