title: KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32).
abstract: We report the cloning of a novel PDGFRB fusion gene partner in a patient with a chronic myeloproliferative disorder characterized by t(5;14)(q33;q32), who responded to treatment with imatinib mesylate. Fluorescence in situ hybridization demonstrated that PDGFRB was involved in the translocation. Long distance inversion PCR identified KIAA1509 as the PDGFRB fusion partner. KIAA1509 is an uncharacterized gene with a predicted coiled-coil oligomerization domain with homology to the HOOK family of proteins. The predicted KIAA1509-PDGFRbeta fusion protein contains the KIAA1509 coiled-coil domain fused to the cytoplasmic domain of PDGFRbeta that includes the tyrosine kinase domain. Imatinib therapy resulted in rapid normalization of the patient's blood counts, and subsequent bone marrow biopsies and karyotypic analysis were consistent with sustained complete remission.
authors.affiliation: Division of Hematology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
authors.forename: R L
authors.initials: RL
authors.lastname: Levine
authors.forename: M
authors.initials: M
authors.lastname: Wadleigh
authors.forename: D W
authors.initials: DW
authors.lastname: Sternberg
authors.forename: I
authors.initials: I
authors.lastname: Wlodarska
authors.forename: I
authors.initials: I
authors.lastname: Galinsky
authors.forename: R M
authors.initials: RM
authors.lastname: Stone
authors.forename: D J
authors.initials: DJ
authors.lastname: DeAngelo
authors.forename: D Gary
authors.initials: DG
authors.lastname: Gilliland
authors.forename: J
authors.initials: J
authors.lastname: Cools
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000970:Antineoplastic Agents / Q000627:therapeutic use*; D001483:Base Sequence; D001549:Benzamides; D002883:Chromosomes, Human, Pair 14; D002895:Chromosomes, Human, Pair 5; D003001:Cloning, Molecular; D017931:DNA Primers; D006801:Humans; D000068877:Imatinib Mesylate; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009196:Myeloproliferative Disorders / Q000188:drug therapy* / Q000235:genetics; D010879:Piperazines / Q000627:therapeutic use*; D011743:Pyrimidines / Q000627:therapeutic use*; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D017931:DNA Primers; D010879:Piperazines; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D020797:Receptor, Platelet-Derived Growth Factor beta