FIP1L1-PDGFRA positive chronic eosinophilic leukemia in Tunisian patients

Pathol Biol (Paris). 2007 Jun;55(5):242-5. doi: 10.1016/j.patbio.2006.10.002. Epub 2006 Nov 29.

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).

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Mapping
  • Chronic Disease
  • Humans
  • Hypereosinophilic Syndrome / epidemiology
  • Hypereosinophilic Syndrome / genetics*
  • Hypereosinophilic Syndrome / pathology
  • Lymph Nodes / pathology
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics*
  • Receptor, Platelet-Derived Growth Factor alpha / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Tunisia / epidemiology
  • mRNA Cleavage and Polyadenylation Factors / genetics*

Substances

  • Oncogene Proteins, Fusion
  • mRNA Cleavage and Polyadenylation Factors
  • FIP1L1-PDGFRA fusion protein, human
  • Receptor, Platelet-Derived Growth Factor alpha