Abstract
Interstitial deletion involving chromosome 4q12 generates the novel tyrosine kinase fusion protein encoded by FIP1L1-PDGFRA, which is present in many patients previously labelled as having hypereosinophilic syndrome, initially reported in 2003. Reports in recent literature document excellent clinical and molecular response to the tyrosine kinase inhibitor imatinib (Glivec). This report describes the case of a 58-year-old lady, diagnosed with FIP1L1-PDGFRA positive hypereosinophilic disorder, who subsequently developed symptoms related to an intracranial lesion. Biopsy and molecular genetic studies confirmed a diffuse infiltrative lesion, with evidence of FIP1L1-PDGFRA gene fusion. Initiation of imatinib treatment led to impressive clinical and radiological response.
MeSH terms
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Benzamides
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Brain Diseases / diagnosis
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Brain Diseases / drug therapy
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Brain Diseases / genetics*
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Female
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Humans
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Hypereosinophilic Syndrome / diagnosis
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Hypereosinophilic Syndrome / drug therapy
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Hypereosinophilic Syndrome / genetics*
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Imatinib Mesylate
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Magnetic Resonance Imaging
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Middle Aged
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Oncogene Proteins, Fusion / genetics*
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Piperazines / therapeutic use
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Protein Kinase Inhibitors / therapeutic use
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Pyrimidines / therapeutic use
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Receptor, Platelet-Derived Growth Factor alpha / genetics*
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mRNA Cleavage and Polyadenylation Factors / genetics*
Substances
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Benzamides
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Oncogene Proteins, Fusion
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Piperazines
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Protein Kinase Inhibitors
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Pyrimidines
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mRNA Cleavage and Polyadenylation Factors
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Imatinib Mesylate
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FIP1L1-PDGFRA fusion protein, human
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Receptor, Platelet-Derived Growth Factor alpha