ARTÍCULO

Quantification of PDGFRA alternative transcripts improves the screening for X-PDGFRA fusions by reverse transcriptase-polymerase chain reaction

Autores: Erquiaga Martínez, Ignacio; Ormazábal Goicoechea, Cristina; Hurtado Rudi, Cristina; Aranaz Oroz, Paula; Calasanz Abinzano, María José; García Delgado, Marina; Novo Villaverde, Francisco Javier; Vizmanos Pérez, José Luis
Título de la revista: LEUKEMIA AND LYMPHOMA
ISSN: 1042-8194
Volumen: 51
Número: 9
Páginas: 1720 - 1726
Fecha de publicación: 2010
Resumen:
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.