title: [The clinical characteristics, gene mutations and prognosis of chronic neutrophilic leukemia].
abstract: Objective:To investigate the clinical manifestation, cytogenetics, gene mutations and prognostic factors of chronic neutrophilic leukemia (CNL) .Methods:16 CNL cases, according to WHO (2016) -definition, were reviewed retrospectively. Identifications of the CSF3R, ASXL1, SETBP1, CALR and MPL mutations were performed by direct sequencing. JAK2 V617F mutation was detected by AS-PCR.Results:Of the 16 CNL patients, the median age was 64 (43-80) years with a male predominance of 75% (12/16) . The median hemoglobin was 114 (81-154) g/L, with median WBC of 41.20 (26.05-167.70) (10(9)/L and median PLT of 238 (91-394) ×10(9)/L.The median level of marrow fibrosis (MF) was 1 (0-3) degree. There was no other cytogenetic abnormalities except t (1;7) (p32;q11) , +21 and 14ps+ for each. All the 16 CNL patients harbored CSF3R T618I mutation. ASXL1 mutations were identified in 81% (13/16) , while SETBP1 mutations were confirmed in 63% (10/16) . The CALR K385fs*47 mutation was found. There was no mutation in JAK2 V617F or MPL in the above 16 patients. The median overall survival (OS) of patients presented with WBC≥50×10(9)/L at diagnosis (11 months) was significantly shorter than of WBC<50×10(9)/L (39 months,P=0.005) .Conclusion:CSF3R T618I mutation was specific for CNL. The median OS of CNL patients was 24 months, and WBC≥50×10(9)/L at diagnosis was an unfavorable prognostic factor.
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, The State Key Laboratory of Experimental Hematology, Tianjin 300020, China.
authors.forename: Y J
authors.initials: YJ
authors.lastname: Cui
authors.forename: Q
authors.initials: Q
authors.lastname: Jiang
authors.forename: J Q
authors.initials: JQ
authors.lastname: Liu
authors.forename: B
authors.initials: B
authors.lastname: Li
authors.forename: Z F
authors.initials: ZF
authors.lastname: Xu
authors.forename: T J
authors.initials: TJ
authors.lastname: Qin
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.forename: W Y
authors.initials: WY
authors.lastname: Cai
authors.forename: H L
authors.initials: HL
authors.lastname: Zhang
authors.forename: L W
authors.initials: LW
authors.lastname: Fang
authors.forename: L J
authors.initials: LJ
authors.lastname: Pan
authors.forename: N B
authors.initials: NB
authors.lastname: Hu
authors.forename: S Q
authors.initials: SQ
authors.lastname: Qu
authors.affiliation: Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, The State Key Laboratory of Experimental Hematology, Tianjin 300020, China.
authors.forename: Z J
authors.initials: ZJ
authors.lastname: Xiao
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001853:Bone Marrow; D002352:Carrier Proteins; D005260:Female; D006801:Humans; D053614:Janus Kinase 2; D015467:Leukemia, Neutrophilic, Chronic; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D011379:Prognosis; D016184:Receptors, Colony-Stimulating Factor; D012189:Retrospective Studies
chemical_list: D002352:Carrier Proteins; D009687:Nuclear Proteins; D016184:Receptors, Colony-Stimulating Factor; C425066:SETBP1 protein, human; D053614:Janus Kinase 2
keywords: Gene, CSF3R; Karyotypes; Leukemia, neutrophilic, chronic; Prognosis