Source:http://linkedlifedata.com/resource/pubmed/id/17137731
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
2007-6-18
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pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/FIP1L1-PDGFRA fusion protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Oncogene Proteins, Fusion,
http://linkedlifedata.com/resource/pubmed/chemical/Receptor, Platelet-Derived Growth...,
http://linkedlifedata.com/resource/pubmed/chemical/mRNA Cleavage and Polyadenylation...
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0369-8114
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
55
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
242-5
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:17137731-Adolescent,
pubmed-meshheading:17137731-Adult,
pubmed-meshheading:17137731-Chromosome Mapping,
pubmed-meshheading:17137731-Chronic Disease,
pubmed-meshheading:17137731-Humans,
pubmed-meshheading:17137731-Hypereosinophilic Syndrome,
pubmed-meshheading:17137731-Lymph Nodes,
pubmed-meshheading:17137731-Middle Aged,
pubmed-meshheading:17137731-Oncogene Proteins, Fusion,
pubmed-meshheading:17137731-Receptor, Platelet-Derived Growth Factor alpha,
pubmed-meshheading:17137731-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:17137731-Tunisia,
pubmed-meshheading:17137731-mRNA Cleavage and Polyadenylation Factors
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pubmed:year |
2007
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pubmed:articleTitle |
FIP1L1-PDGFRA positive chronic eosinophilic leukemia in Tunisian patients.
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pubmed:affiliation |
Laboratoire d'hématologie moléculaire et cellulaire, institut Pasteur de Tunis, Le-Belvedere, Tunis, Tunisie. samia.menif@rns.tn
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pubmed:publicationType |
Journal Article,
Case Reports
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