CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia

被引：0
作者：
Yajuan Cui
Bing Li
Robert Peter Gale
Qian Jiang
Zefeng Xu
Tiejun Qin
Peihong Zhang
Yue Zhang
Zhijian Xiao
机构：
[1] Chinese Academy of Medical Sciences & Peking Union Medical College,MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital
[2] Imperial College,Hematology Research Centre, Division of Experimental Medicine, Department of Medicine
[3] Peking University Institute of Hematology,Peking University People's Hospital
[4] Chinese Academy of Medical Sciences & Peking Union Medical College,Department of Pathology, Institute of Hematology and Blood Diseases Hospital
[5] Chinese Academy of Medical Sciences & Peking Union Medical College,State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital
来源：
Journal of Hematology & Oncology | / 7卷
关键词：
Chronic neutrophilic leukemia, CNL; CSF3R; SETBP1; CALR; Mutation;
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摘要：
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 CSF3RT618I, 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.
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