title: [Characterization of mutational pattern in patients with Ph negative myeloproliferative neoplasms].
abstract: OBJECTIVE
  To characterize the molecular profile in patients with Ph negative myeloproliferative neoplasms (MPN) by exploring 49 gene mutations.
  
  
  METHODS
  Targeted gene sequencing were performed to analyze 49 MPN-associated genes in 51 patients with Ph negative MPN, of which CARL (exon 9), NPM1 (exon 12) and CEBPA (TAD, BZIP domains) were investigated by using Sanger sequencing simultaneously, while FLT3-ITD was assessed by PCR method.
  
  
  RESULTS
  Mutations were detected in 73.5% (36/49) of genes, and the mutational rates of JAK2-V617F, CALR (exon 9) and MPL were 60.8%(31/51), 7.8%(4/51) and 7.8%(4/51) respectively, whereas the mutational rates of ASXL1, SETBP1, and SF3B1 were around 10%. In addition, 96.1% (49/51) of patients harbored at least one mutation, and more than half of the patients (52.9%, 27/51) possessed 3 or 4 gene mutations. The amount of gene mutations was significantly higher in patients with JAK2-V617F mutation than those without JAK2-V617F or CALR (exon 9) mutation (P<0.05). The last finding was that there was no statistically significant difference in the amount of mutations among four MPN subtypes (PV, ET, PMF, and MPN-U).
  
  
  CONCLUSIONS
  Most patients with Ph negative MPN possesses three or more gene mutations, with various mutational profiles.
authors.affiliation: Department of Pathology and Lab Medicine, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Tianjin 300020, China.
authors.forename: F
authors.initials: F
authors.lastname: Xing
authors.forename: Y N
authors.initials: YN
authors.lastname: Lin
authors.forename: Q
authors.initials: Q
authors.lastname: Sun
authors.forename: L
authors.initials: L
authors.lastname: Qin
authors.forename: Y J
authors.initials: YJ
authors.lastname: Jia
authors.forename: D L
authors.initials: DL
authors.lastname: Zhang
authors.forename: K
authors.initials: K
authors.lastname: Ru
mesh_terms: D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D009154:Mutation; D059645:Mutation Rate; D009196:Myeloproliferative Disorders / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D000090243:Nucleophosmin; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D016133:Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; C515848:CEBPA protein, human; D002352:Carrier Proteins; C000716967:NPM1 protein, human; D009687:Nuclear Proteins; C425066:SETBP1 protein, human; D014157:Transcription Factors; D000090243:Nucleophosmin; D017853:Phosphotransferases (Alcohol Group Acceptor); C404793:SHPK protein, human; D053614:Janus Kinase 2