A cryptic BCR-PDGFRB fusion resulting in a chronic myeloid neoplasm with monocytosis and eosinophilia: Anovelfindingwithtreatmentimplications

Abstract

RNA-seq was used to identify the partner gene and confirm the presence of a BCR-PDGFRB fusion. Identification of this fusion product resulted in successful treatment and long-term remission of this myeloid neoplasm. Based on our results, we suggest that despite current WHO recommendations, screening for PDGFRB rearrangement in cases of leukocytosis with eosinophilia and no other etiologic explanation is necessary, even if the karyotype is normal.