title: CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia.
abstract: The WHO 2008 definition of chronic neutrophilic leukemia (CNL) is based on clinical and laboratory parameters but not on molecular abnormalities. Mutations in CSF3R, SETBP1 and CALR are reported in patients with chronic neutrophilic leukemia (CNL). However, because CNL is rare, there are few large studies of this issue. We sequenced these genes in 14 patients who met the WHO-criteria of CNL. 8 subjects had CSF3R(T618I), 6 SETBP1 mutations and 1 a CALR mutation. Our data suggest mutation analysis of CSF3R, SETBP1 and CALR should be included in the diagnostic criteria for CNL. These data may also have therapy implications.
authors.forename: Yajuan
authors.initials: Y
authors.lastname: Cui
authors.forename: Bing
authors.initials: B
authors.lastname: Li
authors.forename: Robert Peter
authors.initials: RP
authors.lastname: Gale
authors.forename: Qian
authors.initials: Q
authors.lastname: Jiang
authors.forename: Zefeng
authors.initials: Z
authors.lastname: Xu
authors.forename: Tiejun
authors.initials: T
authors.lastname: Qin
authors.forename: Peihong
authors.initials: P
authors.lastname: Zhang
authors.forename: Yue
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin 300020, China. zjxiao@medmail.com.cn.
authors.forename: Zhijian
authors.initials: Z
authors.lastname: Xiao
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000235:genetics*; D037282:Calreticulin / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D015467:Leukemia, Neutrophilic, Chronic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D016184:Receptors, Colony-Stimulating Factor / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; C576483:CALR protein, human; C517047:CSF3R protein, human; D037282:Calreticulin; D002352:Carrier Proteins; D009687:Nuclear Proteins; D016184:Receptors, Colony-Stimulating Factor; C425066:SETBP1 protein, human