title: FIP1L1-PDGFRA positive chronic eosinophilic leukaemia and associated central nervous system involvement.
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.
authors.affiliation: Department of Haematology, Newcastle Hospitals Trust, Newcastle upon Tyne, UK. cdwilliams26@blueyonder.co.uk
authors.forename: C
authors.initials: C
authors.lastname: Williams
authors.forename: S
authors.initials: S
authors.lastname: Kalra
authors.forename: U
authors.initials: U
authors.lastname: Nath
authors.forename: N
authors.initials: N
authors.lastname: Bown
authors.forename: V
authors.initials: V
authors.lastname: Wilson
authors.forename: B S
authors.initials: BS
authors.lastname: Wilkins
authors.forename: A J
authors.initials: AJ
authors.lastname: Neylon
mesh_terms: D001549:Benzamides; D001927:Brain Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D017681:Hypereosinophilic Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D000068877:Imatinib Mesylate; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010879:Piperazines / Q000627:therapeutic use; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use; D011743:Pyrimidines / Q000627:therapeutic use; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D039221:mRNA Cleavage and Polyadenylation Factors / Q000235:genetics*
chemical_list: D001549:Benzamides; D015514:Oncogene Proteins, Fusion; D010879:Piperazines; D047428:Protein Kinase Inhibitors; D011743:Pyrimidines; D039221:mRNA Cleavage and Polyadenylation Factors; D000068877:Imatinib Mesylate; C479819:FIP1L1-PDGFRA fusion protein, human; D020796:Receptor, Platelet-Derived Growth Factor alpha