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Background  Myeloproliferative neoplasms (MPNs), typically defined by myeloid proliferation and eosinophilia, and are only rarely caused by platelet-derived growth factor receptor beta (PDGFRB) gene rearrangements.    Case presentation  Here, we report a unique case of MPN that is negative for eosinophilia and characterized by a novel  PDGFRB  rearrangement. After cytogenetic analysis revealed a karyotype of t(5;17) (q32;q11), we used fluorescence  in situ  hybridization to specifically identify the  PDGFRB  gene at 5q31-q33 as the gene that had been translocated. Subsequently, RNA sequencing identified a new  MYO18A - PDGFRB  gene fusion. This fusion presented a previously undescribed breakpoint composed of exon 37 of  MYO18A  and exon 13 of  PDGFRB . Furthermore, both RT-PCR and Bi-directional Sanger sequencing confirmed this out-of-frame fusion. Interestingly, we simultaneously identified the presence of another three  PDGFRB  transcripts, all of which were in-frame fusions. After treating the patient with imatinib, the t(5;17) translocation was no longer detected by conventional cytogenetics or by FISH, and at the time of the last follow-up, the patient had been in complete remission for 26 months.    Conclusion  We prove that  MYO18A - PDGFRB  fusions are recurrent genetic aberrations involved in MPNs, and identify multiple fusion transcripts with novel breakpoints.

Multiple MYO18A-PDGFRB fusion transcripts in a myeloproliferative neoplasm patient with t(5;17)(q32;q11)