Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis

oleh: Philipp Erben, Darko Gosenca, Martin C. Müller, Jelena Reinhard, Joannah Score, Francesco del Valle, Christoph Walz, Jürgen Mix, Georgia Metzgeroth, Thomas Ernst, Claudia Haferlach, Nicholas C.P. Cross, Andreas Hochhaus, Andreas Reiter

Format: Article
Diterbitkan: Ferrata Storti Foundation 2010-05-01

Deskripsi

Background Rapid identification of diverse fusion genes with involvement of PDGFRA or PDGFRB in eosinophilia-associated myeloproliferative neoplasms is essential for adequate clinical management but is complicated by the multitude and heterogeneity of partner genes and breakpoints.Design and Methods We established a generic quantitative reverse transcriptase polymerase chain reaction to detect overexpression of the 3′-regions of PDGFRA or PDGFRB as a possible indicator of an underlying fusion.Results At diagnosis, all patients with known fusion genes involving PDGFRA (n=5; 51 patients) or PDGFRB (n=5; 7 patients) showed significantly increased normalized expression levels compared to 191 patients with fusion gene-negative eosinophilia or healthy individuals (PDGFRA/ABL: 0.73 versus 0.0066 versus 0.0064, P