title: MultipleMYO18A-PDGFRBfusion transcripts in a myeloproliferative neoplasm patient with t(5;17)(q32;q11).
abstract: 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.
  
  
  METHODS
  Here, we report a unique case of MPN that is negative for eosinophilia and characterized by a novelPDGFRBrearrangement. After cytogenetic analysis revealed a karyotype of t(5;17) (q32;q11), we used fluorescencein situhybridization to specifically identify thePDGFRBgene at 5q31-q33 as the gene that had been translocated. Subsequently, RNA sequencing identified a newMYO18A-PDGFRBgene fusion. This fusion presented a previously undescribed breakpoint composed of exon 37 ofMYO18Aand exon 13 ofPDGFRB. Furthermore, both RT-PCR and Bi-directional Sanger sequencing confirmed this out-of-frame fusion. Interestingly, we simultaneously identified the presence of another threePDGFRBtranscripts, 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.
  
  
  CONCLUSIONS
  We prove thatMYO18A-PDGFRBfusions are recurrent genetic aberrations involved in MPNs, and identify multiple fusion transcripts with novel breakpoints.
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, Jiangsu province 215006 China.
authors.forename: Guangying
authors.initials: G
authors.lastname: Sheng
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, Jiangsu province 215006 China.
authors.forename: Zhao
authors.initials: Z
authors.lastname: Zeng
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, Jiangsu province 215006 China.
authors.forename: Jinlan
authors.initials: J
authors.lastname: Pan
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, Jiangsu province 215006 China.
authors.forename: Linbing
authors.initials: L
authors.lastname: Kou
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, Jiangsu province 215006 China.
authors.forename: Qinrong
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, Jiangsu province 215006 China.
authors.forename: Hong
authors.initials: H
authors.lastname: Yao
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, Jiangsu province 215006 China.
authors.forename: Lijun
authors.initials: L
authors.lastname: Wen
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, Jiangsu province 215006 China.
authors.forename: Liang
authors.initials: L
authors.lastname: Ma
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, Jiangsu province 215006 China.|Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.
authors.forename: Depei
authors.initials: D
authors.lastname: Wu
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, Jiangsu province 215006 China.
authors.forename: Huiying
authors.initials: H
authors.lastname: Qiu
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, Jiangsu province 215006 China.|Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.
authors.forename: Suning
authors.initials: S
authors.lastname: Chen
keywords: Imatinib; MPNs; MYO18A; PDGFRB rearrangement