The importance of cytogenetic and molecular analyses in eosinophilia-associated myeloproliferative neoplasms: an unusual case with normal karyotype and TNIP1- PDGFRB rearrangement and overview of PDGFRB partner genes

Fusion genes derived from the platelet-derived growth factor receptor beta (PDGFRB) or alpha (PDGFRA) play an important role in the pathogenesis of eosinophilia-associated myeloproliferative neoplasms (Eo-MPN). Here, we would like to report a case of Eo-MPN with normal karyotype and rearrangement of TNIP1-PDGFRB, with unusual clinical presentation, which delayed the diagnosis and initiation of an appropriate therapy. We would also like to provide a review of the so far reported PDGFRB fusion partners in myeloid neoplasms, either myeloproliferative or myelodysplastic, summarizing clinical features and response to imatinib