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. CONCLUSION: 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.
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. CONCLUSION: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: Y J Cui; Q Jiang; J Q Liu; B Li; Z F Xu; T J Qin; Y Zhang; W Y Cai; H L Zhang; L W Fang; L J Pan; N B Hu; S Q Qu; Z J Xiao Journal: Zhonghua Xue Ye Xue Za Zhi Date: 2017-01-14
Authors: Jaymi Tan; Yock Ping Chow; Norziha Zainul Abidin; Kian Meng Chang; Veena Selvaratnam; Nor Rafeah Tumian; Yang Ming Poh; Abhi Veerakumarasivam; Michael Arthur Laffan; Chieh Lee Wong Journal: BMC Med Genomics Date: 2022-01-15 Impact factor: 3.063