FIP1L1-PDGFRA positive chronic eosinophilic leukemia in Tunisian patients.
Pathol Biol (Paris)
; 55(5): 242-5, 2007 Jun.
Article
in En
| MEDLINE
| ID: mdl-17137731
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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Oncogene Proteins, Fusion
/
Hypereosinophilic Syndrome
/
Receptor, Platelet-Derived Growth Factor alpha
/
MRNA Cleavage and Polyadenylation Factors
Limits:
Adolescent
/
Adult
/
Humans
/
Middle aged
Country/Region as subject:
Africa
Language:
En
Journal:
Pathol Biol (Paris)
Year:
2007
Document type:
Article
Affiliation country: