FIP1L1 – PDGFRA positive chronic eosinophilic leukemia in Tunisian patients

Abstract : Hypereosinophilic syndromes (HES) are a heterogenous group of rare disorders characterized by sustained and otherwise unexplained overproduction of eosinophils with organ involvement and consecutive dysfunction. Detection of the FIP1L1-PDGFRA fusion gene or the corresponding cryptic 4q12 deletion in HES supports the diagnosis of chronic eosinophilic leukemia (CEL) and provides a molecular explanation for the pathogenesis of this disorder. We screened seven Tunisian patients fulfilling the WHO criteria of HES for the presence of the FIP1L1-PDGFRA fusion gene using nested reverse transcription polymerase chain reaction on peripheral blood samples. Four of the seven patients were positive for this fusion gene. Sequence analysis revealed a substantial heterogeneity of the fusion transcripts due to the involvement of several FIP1L1 exons. All patients were male. The median age at diagnosis was 24 years (range, 18-50); one patient had a history of hypereosinophilia of more than 10 years. Two patients had clinically important and symptomatic eosinophilic endomyocardial disease with thrombotic events. Splenomegaly was constant in FIP1L1-PDGFRA positive CEL but not in the other HES patients (only 1/3).
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Contributor : Institut Pasteur Tunis <>
Submitted on : Monday, December 19, 2016 - 10:47:35 AM
Last modification on : Tuesday, April 23, 2019 - 3:04:02 PM

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S. Menif, H Omri, R Hafsia, N. Ben Romdhane, S Turki, et al.. FIP1L1 – PDGFRA positive chronic eosinophilic leukemia in Tunisian patients. Pathologie Biologie, Elsevier Masson, 2007, 55 (5), pp.242-5. ⟨10.1016/j.patbio.2006.10.002⟩. ⟨pasteur-01375252⟩

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