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Title: Clinical and molecular features of FIP1L1-PDFGRA (+) chronic eosinophilic leukemias
Authors: Vandenberghe, Peter ×
Wlodarska, Iwona
Michaux, Lucienne
Zachée, P
Boogaerts, Marc
Vanstraelen, D
Herregods, Marie-Christine
Van Hoof, Achilles
Selleslag, D
Roufosse, F
Maerevoet, M
Verhoef, Gregor
Cools, Jan
Gilliland, D G
Hagemeijer-Hausman, Anne
Marynen, Peter #
Issue Date: Apr-2004
Publisher: Stockton Press
Series Title: Leukemia vol:18 issue:4 pages:734-42
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.
URI: 
ISSN: 0887-6924
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Hematology Section (-)
Cardiology
Molecular Genetics Section (-)
Laboratory for Genetics of Malignant Disorders
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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