FIP1L1–PDGFRA positive chronic eosinophilic leukaemia and associated central nervous system involvement
- 1Department of Haematology, Newcastle Hospitals Trust, Newcastle upon Tyne, UK
- 2Regional Neurosciences Unit, Newcastle Hospitals Trust, Newcastle upon Tyne, UK
- 3NHS Northern Genetics Service, Newcastle upon Tyne, UK
- 4Department of Histopathology, Newcastle Hospitals Trust, Newcastle upon Tyne, UK
- 5Department of Haematology, City Hospitals Sunderland Trust, Sunderland, UK
- Dr Chris Williams, Department of Haematology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne NE1 4LP, UK;
- Accepted 18 December 2007
- Published Online First 6 February 2008
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.
Competing interests: None.
Patient consent: Informed consent has been obtained for the publication of the details in this report.