Identification of a novel PDGFRA point mutation at p.P6L as a potential molecular target of imatinib in an eosinophilia patient showing genetic heterogeneity
Abstract:Eosinophilia is a severe disease with increased eosinophil count. The transcript of FIP1L1-PDGFRA fusion gene is a genetic biomarker of clonal eosinophilia screened routinely by reverse transcript PCR (RT-PCR) during diagnosis. Another significant genetic biomarker is the PDGFRA gene alone as some of its mutations are targets of imatinib. In this study, we identified a patient who had typical symptoms of Eosinophilia but had no response to the first-line treatment of hormonotherapy. This patient also showed bo… Show more
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