CSF3R, ASXL1,SETBP1, JAK2 V617F and CALR mutations in chronic neutrophilic leukemia.
- VernacularTitle:慢性中性粒细胞白血病CSF3R、ASXL1、SETBP1、JAK2 V617F和CALR基因突变研究
- Author:
Yajuan CUI
1
;
Bing LI
1
;
Qian JIANG
1
;
Zefeng XU
1
;
Tiejun QIN
1
;
Peihong ZHANG
1
;
Yue ZHANG
1
;
Zhijian XIAO
1
Author Information
- Publication Type:Journal Article
- MeSH: Carrier Proteins; Humans; Janus Kinase 2; Leukemia, Neutrophilic, Chronic; Mutation; Nuclear Proteins; Polymerase Chain Reaction; Receptors, Colony-Stimulating Factor; Repressor Proteins; Retrospective Studies
- From: Chinese Journal of Hematology 2014;35(12):1069-1073
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo observe the CSF3R, ASXL1, SETBP1, JAK2 V617F and CALR mutations in patients with chronic neutrophilic leukemia (CNL).
METHODSTwelve 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.
RESULTS6 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.
CONCLUSIONCSF3R, ASXL1 and SETBP1 mutations differential diagnosis of CNL, and should be included in the diagnostic protocol so as to improve diagnostic accuracy for CNL.
