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FIP1L1-PDGFRA positive chronic eosinophilic leukaemia and associated central nervous system involvement

Lookup NU author(s): Dr Uma Nath, Dr Valerie Wilson, Dr Bridget Wilkins

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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.

Publication metadata

Author(s): Williams C, Kalra S, Nath U, Bown N, Wilson V, Wilkins BS, Neylon AJ

Publication type: Article

Publication status: Published

Journal: Journal of Clinical Pathology

Year: 2008

Volume: 61

Issue: 5

Pages: 677-680

Date deposited: 21/05/2010

ISSN (print): 0021-9746

ISSN (electronic): 1472-4146

Publisher: BMJ Publishing Group

URL: http://dx.doi.org/10.1136/jcp.2007.052100

DOI: 10.1136/jcp.2007.052100

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