title: HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2).
abstract: PDGFRB, a transmembrane tyrosine kinase receptor for platelet-derived growth factor, is constitutively activated by gene fusion with different partners in myeloproliferative/myelodysplastic disorders with peculiar clinical characteristics. Six alternative partner genes have been described thus far. In this study, we report the molecular cloning of a novel translocation t(5;17)(q33;p11.2) in a case of juvenile myelomonocytic leukemia. The novel partner gene was identified as HCMOGT-1 using 5'-rapid amplification of cDNA ends; fluorescence in situ hybridization and reverse transcriptase-PCR analyses confirmed that the translocation resulted in PDGFRB/HCMOGT-1 fusion. We show that the breakpoint of PDGFRB occurred at the same site of all previously reported PDGFRB translocations.
authors.affiliation: Dipartimento di Ematologia ed Oncologia Pediatrica, Istituto di Ricovero e Cura a Carattere Scientifico Istituto G. Gaslini, Genova, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Morerio
authors.forename: Maura
authors.initials: M
authors.lastname: Acquila
authors.forename: Cristina
authors.initials: C
authors.lastname: Rosanda
authors.forename: Annamaria
authors.initials: A
authors.lastname: Rapella
authors.forename: Carlo
authors.initials: C
authors.lastname: Dufour
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
authors.forename: Emanuela
authors.initials: E
authors.lastname: Maserati
authors.forename: Francesco
authors.initials: F
authors.lastname: Pasquali
authors.forename: Claudio
authors.initials: C
authors.lastname: Panarello
mesh_terms: D018797:Cell Cycle Proteins; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003598:Cytoskeletal Proteins; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000235:genetics*; D014178:Translocation, Genetic; D000096985:Calponins
chemical_list: D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D009687:Nuclear Proteins; D020797:Receptor, Platelet-Derived Growth Factor beta; D011993:Recombinant Fusion Proteins; C486588:SPECC1 protein, human; D000096985:Calponins