PDGFRalpha/FIP1L1-positive chronic eosinophilic leukemia presenting with retro-orbital localization: efficacy of imatinib treatment
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The fusion protein between the platelet-derived growth factor receptor alpha (PDGFRalpha, P) gene and the Fip1-like1 (FIP1L1, F) may be identified in 14 to 60% of HES and it indicates a clonal hypereosinophilic syndrome called F/P-positive CEL. We herein report a case of F/P-positive CEL with retro-orbital localization, who was successfully treated with imatinib.
A 53-year-old male presented an absolute eosinophil count of 25,000/mm3, anemia (Hb 10.2 g/dl) and a moderate increase in the platelet count (571,000/mm3). A clinical examination revealed left exophthalm, associated with diffuse hypoesthesia and diplopia. A CT scan of orbits showed a lesion located in the lachrymal fossa of the left orbit with intra- and extra-conical extension. Molecular analysis excluded the presence of bcr/abl transcript while a F/P fusion tyrosine kinase signal was documented. Imatinib mesylate (IM) was started and, after 7 days of treatment eosinophil count significantly declined along with a dramatic reduction of the left exophthalm. IM dosage was increased up to 300 mg/day. The drug was well tolerated with an initial modest haematological toxicity. The left exophthalm, as well as hypoesthesia and diplopia, disappeared after IM therapy. MRI showed a clear reduction of the intra- and extra-conical growth process. BM molecular signal of the F/P fusion gene resulted undetectable after 4 weeks of treatment.
In our case, the diagnosis of FIPIL1-PDGFRA-positive CEL and IM therapy has allowed the patient to experience an excellent clinical therapeutic result, avoiding surgical treatment of the retro-orbital mass
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