title: Severe Prolonged Cough as Presenting Manifestation of FIP1L1-PDGFRA+ Chronic Eosinophilic Leukaemia: A Widely Ignored Association.
abstract: Chronic eosinophilic leukaemia associated with the FIP1L1-PDGFRA 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 B12 levels. The diagnosis is made by fluorescence in situ hybridization (FISH) showing the deletion of the CHIC2 locus and/or RT-PCR showing the FIP1L1-PDGFRA 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 CHIC2 deletion and further delayed diagnosis, underlining that both FISH and RT-PCR should be performed when this disease is suspected.
authors.affiliation: Department of Internal Medicine, Hx00F4;pital Erasme, Universitx00E9; Libre de Bruxelles, Brussels, Belgium.
authors.forename: Florence
authors.initials: F
authors.lastname: Roufosse
authors.forename: Pierre
authors.initials: P
authors.lastname: Heimann
authors.forename: Frédéric
authors.initials: F
authors.lastname: Lambert
authors.forename: Pierre
authors.initials: P
authors.lastname: Sidon
authors.forename: Dominique
authors.initials: D
authors.lastname: Bron
authors.forename: Vincent
authors.initials: V
authors.lastname: Cottin
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Cordier
mesh_terms: D000368:Aged; D000970:Antineoplastic Agents / Q000627:therapeutic use; D002908:Chronic Disease; D003371:Cough / Q000175:diagnosis* / Q000209:etiology; D004268:DNA-Binding Proteins / Q000235:genetics; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D050939:Gene Fusion; D006801:Humans; D017681:Hypereosinophilic Syndrome / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D000068877:Imatinib Mesylate / Q000627:therapeutic use; D017404:In Situ Hybridization, Fluorescence; D007938:Leukemia / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D008168:Lung / Q000000981:diagnostic imaging; D008297:Male; D060888:Real-Time Polymerase Chain Reaction; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors / Q000235:genetics; D039221:mRNA Cleavage and Polyadenylation Factors / Q000235:genetics
chemical_list: D000970:Antineoplastic Agents; C121401:CHIC2 protein, human; D004268:DNA-Binding Proteins; C479818:FIP1L1 protein, human; D014157:Transcription Factors; D039221:mRNA Cleavage and Polyadenylation Factors; D000068877:Imatinib Mesylate; D020796:Receptor, Platelet-Derived Growth Factor alpha