Clinical and molecular features of FIP1L1-PDFGRA (+) chronic eosinophilic leukemias View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2004-04

AUTHORS

P Vandenberghe, I Wlodarska, L Michaux, P Zachée, M Boogaerts, D Vanstraelen, M-C Herregods, A Van Hoof, D Selleslag, F Roufosse, M Maerevoet, G Verhoef, J Cools, D G Gilliland, A Hagemeijer, P Marynen

ABSTRACT

Detection of the FIP1L1-PDGFRA fusion gene or the corresponding cryptic 4q12 deletion supports the diagnosis of chronic eosinophilic leukemia (CEL) in patients with chronic hypereosinophilia. We retrospectively characterized 17 patients fulfilling WHO criteria for idiopathic hypereosinophilic syndrome (IHES) or CEL, using nested RT-PCR and interphase fluorescence in situ hybridization (FISH). Eight had FIP1L1-PDGFRA (+) CEL, three had FIP1L1-PDGFRA (-) CEL and six had IHES. FIP1L1-PDGFRA (+) CEL responded poorly to steroids, hydroxyurea or interferon-alpha, and had a high probability of eosinophilic endomyocarditis (n=4) and disease-related death (n=4). In FIP1L1-PDGFRA (+) CEL, palpable splenomegaly was present in 5/8 cases, serum vitamin B(12) was always markedly increased, and marrow biopsies revealed a distinctively myeloproliferative aspect. Imatinib induced rapid complete hematological responses in 4/4 treated FIP1L1-PDGFRA (+) cases, including one female, and complete molecular remission in 2/3 evaluable cases. In the female patient, 1 log reduction of FIP1L1-PDGFRA copy number was reached as by real-time quantitative PCR (RQ-PCR). Thus, correlating IHES/CEL genotype with phenotype, FIP1L1-PDGFRA (+) CEL emerges as a homogeneous clinicobiological entity, where imatinib can induce molecular remission. While RT-PCR and interphase FISH are equally valid diagnostic tools, the role of marrow biopsy in diagnosis and of RQ-PCR in disease and therapy monitoring needs further evaluation. More... »

PAGES

2403313

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.leu.2403313

DOI

http://dx.doi.org/10.1038/sj.leu.2403313

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007022295

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/14973504


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JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/sj.leu.2403313'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/sj.leu.2403313'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/sj.leu.2403313'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/sj.leu.2403313'


 

This table displays all metadata directly associated to this object as RDF triples.

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331 https://www.grid.ac/institutes/grid.414977.8 schema:alternateName Jessa Hospital
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334 https://www.grid.ac/institutes/grid.420036.3 schema:alternateName AZ Sint-Jan
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