The clinical characteristics, gene mutations and prognosis of chronic neutrophilic leukemia / 中华血液学杂志

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) (109/L and median PLT of 238 (91-394) ×109/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≥50×109/L at diagnosis (11 months) was significantly shorter than of WBC<50×109/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≥50×109/L at diagnosis was an unfavorable prognostic factor.