title: [CSF3R, ASXL1,SETBP1, JAK2 V617F and CALR mutations in chronic neutrophilic leukemia].
abstract: OBJECTIVE
  To observe the CSF3R, ASXL1, SETBP1, JAK2 V617F and CALR mutations in patients with chronic neutrophilic leukemia (CNL).
  
  
  METHODS
  Twelve suspected "CNL" patients were retrospectively reviewed according the WHO criteria (2008). CSF3R,ASXL1,SETBP1 and CALR mutations were sequenced, and JAK2 V617F was tested by allele specific (AS)-PCR.
  
  
  RESULTS
  6 of 12 cases were diagnosed as CML, and all of the 6 carried. 4 of 6 patients also had ASXL1 and SETBP1 mutations and one had a CALR mutation (c.1154-1155insTTGTC). Two patients with monoclonal gammopathy with uncertain significance (MGUS) combined with CNL-like symptoms had no CSF3R, ASXL1, SETBP1, JAK2 V617F or CALR mutation. The same results were also seen in other 4 cases with secondary neutrophilic leukocytosis.
  
  
  CONCLUSIONS
  CSF3R, ASXL1 and SETBP1 mutations differential diagnosis of CNL, and should be included in the diagnostic protocol so as to improve diagnostic accuracy for CNL.
authors.affiliation: Institute of Hematology and Blood Diseases Hospital, State Key Laboratory of Experimental Hematology, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Yajuan
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Institute of Hematology and Blood Diseases Hospital, State Key Laboratory of Experimental Hematology, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Li
authors.affiliation: Institute of Hematology and Blood Diseases Hospital, State Key Laboratory of Experimental Hematology, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Jiang
authors.affiliation: Institute of Hematology and Blood Diseases Hospital, State Key Laboratory of Experimental Hematology, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Zefeng
authors.initials: Z
authors.lastname: Xu
authors.affiliation: Institute of Hematology and Blood Diseases Hospital, State Key Laboratory of Experimental Hematology, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Tiejun
authors.initials: T
authors.lastname: Qin
authors.affiliation: Institute of Hematology and Blood Diseases Hospital, State Key Laboratory of Experimental Hematology, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Peihong
authors.initials: P
authors.lastname: Zhang
authors.affiliation: Institute of Hematology and Blood Diseases Hospital, State Key Laboratory of Experimental Hematology, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Institute of Hematology and Blood Diseases Hospital, State Key Laboratory of Experimental Hematology, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Zhijian
authors.initials: Z
authors.lastname: Xiao
mesh_terms: D002352:Carrier Proteins; D006801:Humans; D053614:Janus Kinase 2; D015467:Leukemia, Neutrophilic, Chronic; D009154:Mutation; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D016184:Receptors, Colony-Stimulating Factor; D012097:Repressor Proteins; D012189:Retrospective Studies
chemical_list: C473949:ASXL1 protein, human; C517047:CSF3R protein, human; D002352:Carrier Proteins; D009687:Nuclear Proteins; D016184:Receptors, Colony-Stimulating Factor; D012097:Repressor Proteins; C425066:SETBP1 protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2