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A 54-Year-Old Woman with a Myeloid Neoplasm Associated with Eosinophilia and t ( 5 ; 12 ) ( q 33 ; p 13 ) / PDFRFB Rearrangement : Case Report and Mini-review of the Literature

Hereby, we present the case of a 54-year-old woman with a myeloid neoplasm associated with ETV6-PDGFRB rearrangement. Clinical examination revealed splenomegaly and hypereosinophilia was observed in peripheral blood (44.8 × 109 WBC/L; eosinophils: 2.24 × 103/mm3). Bone marrow aspirate and biopsy were hypercellular, mainly composed of granular cells with an increased medullary eosinophilia and displayed dysplastic features. Finally, bone marrow cytogenetics showed a t(5;12)(q33;p13) karyotype in 94% metaphases with fluorescence in-situ hybridization (FISH) analysis. Since myeloid neoplasms associated with PDGFRB rearrangements are generally well sensitive to tyrosine kinase inhibitor, an imatinib therapy was initiated (400 mg/daily). Patient responded well to treatment and eleven months after initiation of chemotherapy, patient was still in hematological and cytogenetic remission. In addition, several uncertainties related to this neoplasm were reviewed in the literature such as male bias, eosinophilic commitment, optimal imatinib dosage regimen, delayed-diagnostic, natural course of the disease (and associated treatment resistance) or imatinib withdrawal in case of deep molecular response.