title: [Clinical and genetic features of a patient with myeloid neoplasm in association with PDGFRA and EVI1 gene rearrangements].
abstract: OBJECTIVE
  Todelineate the clinical and genetic features of a patient with myeloproliferative neoplasm (MPN) in association with PDGFRA and EVI1 genes rearrangements.
  
  
  METHODS
  Clinical data of the patient was collected. Conventional cytogenetics, fluorescence in situ hybridization (FISH) and nested PCR were carried out for the patient.
  
  
  RESULTS
  The patient has featured recurrent rash, joint pain, and intermittent fever. Laboratory tests showed hyperleukocytosis and marked eosinophilia. Physical examination revealed splenomegaly. His karyotype was 46,XY,t(3;5)(q26;q15)[6]/46,XY[10]. FISH assay showed that both PDGFRA and EVI1 genes were rearranged. Molecular studies of the mRNA suggested that there was a in-frame fusion between exon 12 of the PDGFRA gene and exon 9 of the FIP1L1 gene. Imatinib was initiated at a dosage of 200 mg, and after 10 months, the signal of the FIP1L1-PDGFRA fusion gene was undetectable in bone marrow sample. However, the expression of EVI1 mRNA was stable, with no significant difference found between the patient and 10 healthy controls.
  
  
  CONCLUSIONS
  MPN in association with PDGFRA and EVI1 genes rearrangements have unique clinical and genetic features. Genetic testing is helpful for early diagnosis. Imatinib may be effective for the treatment.
authors.affiliation: Department of Hematology, Affiliated Changzhou Second Hospital of Nanjing Medical University, Changzhou, Jiangsu 213003, China. chaohy2006@126.com.
authors.forename: Wenmin
authors.initials: W
authors.lastname: Han
authors.forename: Hongying
authors.initials: H
authors.lastname: Chao
authors.forename: Min
authors.initials: M
authors.lastname: Zhou
authors.forename: Ling
authors.initials: L
authors.lastname: Cen
authors.forename: Suning
authors.initials: S
authors.lastname: Chen
authors.forename: Xuefeng
authors.initials: X
authors.lastname: He
authors.forename: Xuzhang
authors.initials: X
authors.lastname: Lu
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D001483:Base Sequence; D002871:Chromosome Banding; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D000068877:Imatinib Mesylate / Q000627:therapeutic use; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D000074008:MDS1 and EVI1 Complex Locus Protein; D008297:Male; D009196:Myeloproliferative Disorders / Q000188:drug therapy / Q000235:genetics*; D011519:Proto-Oncogenes / Q000235:genetics*; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D000970:Antineoplastic Agents; D004268:DNA-Binding Proteins; D000074008:MDS1 and EVI1 Complex Locus Protein; C063575:MECOM protein, human; D014157:Transcription Factors; D000068877:Imatinib Mesylate; D020796:Receptor, Platelet-Derived Growth Factor alpha