慢性中性粒细胞白血病临床和实验室特征及预后因素分析

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) (10(9)/L and median PLT of 238 (91–394) ×10(9)/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≥50×10(9)/L at diagnosis (11 months) was significantly shorter than of WBC<50×10(9)/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≥50×10(9)/L at diagnosis was an unfavorable prognostic factor.