title: Fusion of PRKG2 and SPTBN1 to the platelet-derived growth factor receptor beta gene (PDGFRB) in imatinib-responsive atypical myeloproliferative disorders.
abstract: Chromosomal translocations involving the platelet-derived growth factor receptor beta gene (PDGFRB) have been reported in a subset of patients with atypical myeloproliferative disorders (MPDs). The fusion of the PDGFRB gene, which encodes a tyrosine kinase receptor, with different partner genes results in its constitutive activation. We present the cases of two patients with atypical MPD carrying t(4;5)(q21;q33) and t(2;5)(p21;q33), respectively. Fluorescence in situ hybridization demonstrated that PDGFRB was involved in both translocations. Further characterization of the 4q21 breakpoint using a bacterial artificial chromosome probe revealed PRKG2 as the likely gene partner to PDGFRB. Characterization of the 2p21 breakpoint identified a novel gene partner to PDGFRB, the SPTBN1 gene. Both patients achieved a complete molecular remission after introduction of imatinib mesylate therapy.
authors.affiliation: Leukemia/BMT Program of British Columbia, Division of Hematology, Vancouver General Hospital, British Columbia Cancer Agency and University of British Columbia, Gordon & Leslie Diamond Health Care Centre, Vancouver, BC V5Z 1M9, Canada.
authors.forename: Genevieve
authors.initials: G
authors.lastname: Gallagher
authors.forename: Douglas E
authors.initials: DE
authors.lastname: Horsman
authors.forename: Peter
authors.initials: P
authors.lastname: Tsang
authors.forename: Donna L
authors.initials: DL
authors.lastname: Forrest
mesh_terms: D000328:Adult; D000368:Aged; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001549:Benzamides; D002894:Chromosomes, Human, Pair 4; D002895:Chromosomes, Human, Pair 5; D062967:Cyclic GMP-Dependent Protein Kinase Type II; D017869:Cyclic GMP-Dependent Protein Kinases / Q000235:genetics*; D005260:Female; D050939:Gene Fusion; D006801:Humans; D000068877:Imatinib Mesylate; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000188:drug therapy* / Q000235:genetics* / Q000473:pathology; D010879:Piperazines / Q000627:therapeutic use*; D011743:Pyrimidines / Q000627:therapeutic use*; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics*; D013049:Spectrin / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D010879:Piperazines; D011743:Pyrimidines; C452439:SPTBN1 protein, human; D013049:Spectrin; D000068877:Imatinib Mesylate; D020797:Receptor, Platelet-Derived Growth Factor beta; D062967:Cyclic GMP-Dependent Protein Kinase Type II; D017869:Cyclic GMP-Dependent Protein Kinases; C569729:PRKG2 protein, human