title: Quantification of PDGFRA alternative transcripts improves the screening for X-PDGFRA fusions by reverse transcriptase-polymerase chain reaction.
abstract: Hematological malignancies with eosinophilia are often associated with fusions in PDGFRA, PDGFRB, or FGFR1 genes. RT-PCR has proved to be useful for finding new PDGFRA gene fusions, but some studies have shown overexpression of the TK domain which cannot be explained by the existence of such aberrations. This fact could be related to the expression of alternative PDGFRA transcripts. We show that quantification of the expression of three different PDGFRA fragments discriminates between PDGFRA alternative transcripts and fusion genes, and we have tested this novel methodological approach in a group of eosinophilia cases. Our data show that alternative PDGFRA transcripts should be taken into account when screening for PDGFRA aberrations, such as gene fusions, by RT-PCR. Expression from an internal PDGFRA promoter seems to be a frequent event, in both normal and leukemic samples, and is probably related to physiological conditions, but it could have a role in other tumors. Even so, we show that our RQ-PCR methodology can discriminate expression of alternative transcripts from the presence of X-PDGFRA fusion genes.
authors.affiliation: Department of Genetics, School of Sciences, University of Navarra, Pamplona, Spain.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Erquiaga
authors.forename: Cristina
authors.initials: C
authors.lastname: Ormazábal
authors.forename: Cristina
authors.initials: C
authors.lastname: Hurtado
authors.forename: Paula
authors.initials: P
authors.lastname: Aranaz
authors.forename: María J
authors.initials: MJ
authors.lastname: Calasanz
authors.forename: Marina
authors.initials: M
authors.lastname: García-Delgado
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Novo
authors.forename: José L
authors.initials: JL
authors.lastname: Vizmanos
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D016022:Case-Control Studies; D045744:Cell Line, Tumor; D004802:Eosinophilia / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D019337:Hematologic Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D011379:Prognosis; D012333:RNA, Messenger / Q000235:genetics; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; D020796:Receptor, Platelet-Derived Growth Factor alpha