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- W2381172015 abstract "Chronic eosinophilic leukaemia associated with the <i>FIP1L1-PDGFRA</i> fusion gene (F/P+ CEL) is a rare cause of marked persistent hypereosinophilia, arising almost exclusively in male patients. Clinical presentations are heterogeneous with a higher incidence of eosinophil-mediated cardiomyopathy than in other hypereosinophilic syndrome variants. Features of chronic myeloproliferative disease are often present, including splenomegaly and elevated serum vitamin B<sub>12</sub> levels. The diagnosis is made by fluorescence in situ hybridization (FISH) showing the deletion of the <i>CHIC2</i> locus and/or RT-PCR showing the <i>FIP1L1-PDGFRA</i> fusion transcript. Treatment with imatinib mesylate, a tyrosine kinase inhibitor, results in rapid and complete resolution of hypereosinophilia and associated symptoms, except for those related to sub-endocardial fibrosis that may be irreversible. We report the case of a male patient in whom isolated intractable cough remained the only clinical manifestation of F/P+ CEL for 4 years. Furthermore, eosinophil autofluorescence, an as yet unreported artefact in this setting, precluded the detection of the <i>CHIC2</i> deletion and further delayed diagnosis, underlining that both FISH and RT-PCR should be performed when this disease is suspected." @default.
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- W2381172015 date "2016-01-01" @default.
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- W2381172015 title "Severe Prolonged Cough as Presenting Manifestation of <b><i>FIP1L1-PDGFRA</i></b>+ Chronic Eosinophilic Leukaemia: A Widely Ignored Association" @default.
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- W2381172015 doi "https://doi.org/10.1159/000446076" @default.
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