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FIP1L1-PDGFRA positive chronic eosinophilic leukaemia and associated central nervous system involvement
  1. Chris Williams (cdwilliams26{at}blueyonder.co.uk)
  1. Department of Haematology, Newcastle Hospitals Trust, United Kingdom
    1. Seema Kalra (seema.kalra{at}nuth.nhs.uk)
    1. Regional Neurosciences Unit, Newcastle Hospitals Trust, United Kingdom
      1. Uma Nath (uma.nath{at}chs.northy.nhs.uk)
      1. Regional Neurosciences Unit, Newcastle Hospitals Trust, United Kingdom
        1. Nick Bown (nick.bown{at}ncl.ac.uk)
        1. NHS Northern Genetics Service, Newcastle upon Tyne, United Kingdom
          1. Val Wilson (v.wilson{at}ncl.ac.uk)
          1. NHS Northern Genetics Service, Newcastle upon Tyne, United Kingdom
            1. Bridget S Wilkins (bridget.wilkins{at}nuth.northy.nhs.uk)
            1. Department of Histopathology, Newcastle Hospitals Trust, United Kingdom
              1. Annette J Neylon (annette.neylon{at}chs.northy.nhs.uk)
              1. Department of Haematology, City Hospitals Sunderland Trust, United Kingdom

                Abstract

                Interstitial deletion involving chromosome 4q12 generates the novel tyrosine kinase fusion protein, FIP1L1-PDGFRA, 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, Novartis). Here, we describe 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.

                • <it>FIP1L1-PDGFRA</it>
                • Central nervous system
                • Eosinophilia
                • Imatinib
                • Myeloproliferative disease

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