Key result
RQ-PCR quantification of three different PDGFRA fragments successfully discriminated expression of alternative transcripts from the presence of X-PDGFRA fusion genes in eosinophilia cases.
A novel RQ-PCR methodology quantifying three PDGFRA fragments can successfully discriminate alternative transcripts from X-PDGFRA fusion genes, improving screening accuracy in hematological malignancies with eosinophilia.
Transcript quantification refines PDGFRA assessment in eosinophilia; leaves open its prognostic role pending validation.
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.
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Erquiaga et al. (2010) studied Hematological malignancies with eosinophilia. RQ-PCR quantification of three different PDGFRA fragments was evaluated on Discrimination between PDGFRA alternative transcripts and fusion genes. RQ-PCR quantification of three different PDGFRA fragments successfully discriminated expression of alternative transcripts from the presence of X-PDGFRA fusion genes in eosinophilia cases.
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