慢性中性粒细胞白血病五例临床及实验室特征分析  

Clinical and laboratory characteristics of chronic neutrophilic leukemia： analyses of five cases

作　　者：郭素芬[1] 黄艳[1] 李建兰[1] 杨波[1] 陈秀花[1] Guo Sufen, Huang Yan, Li Jianlan, Yang Bo, Chen Xiuhua(Diagnosis Laboratory, the Second Hospital of Shanxi Medical University, Taiyuan 030001, Chin)

机构地区：[1]山西医科大学第二医院诊断学实验室,太原030001

出　　处：《白血病．淋巴瘤》2018年第4期234-237,共4页Journal of Leukemia & Lymphoma

摘　　要：目的探讨慢性中性粒细胞白血病（CNL）患者的临床表现及细胞形态学、遗传学和基因突变等实验室特征。方法对2011年5月至2017年5月山西医科大学第二医院符合世界卫生组织（WHO）2016诊断标准的5例CNL患者进行回顾性分析，收集其临床表现、实验室特点、治疗方法等资料进行分析。结果5例CNL患者发病时外周血白细胞计数均明显增高，平均81．26×10^-9／L[（29～217）×10^-9／L]；外周血细胞形态分析表现为成熟中性粒细胞比例持续增多（0．80～0．85），中性粒细胞碱性磷酸酶（NAP）积分增高（144～266）；骨髓细胞形态表现为粒系增生为主，未见明显发育异常表现；基因检测显示，5例患者中CSF3R T618I突变3例；单独存在JAK2 V617F突变2例；骨髓活检网状纤维染色显示，单独存在JAK2 V617F突变的患者纤维化程度较存在CSF3R T618I突变的患者高[骨髓纤维化（MF）≥2和MF〈2]。结论CNL是一种少见类型的慢性白血病，CSF3R T618I突变是诊断CNL的特异性分子诊断指标；单独存在JAK2 V617F突变与骨髓纤维化表现可能具有一定相关性，仍待进一步研究。Objective To investigate the clinical characteristics, cell morphology, genetics, gene mutations of the patients with chronic neutrophilic leukemia （CNL）. Methods Five CNL patients from the Second Hospital of Shanxi Medical University between May 2011 and May 2017 who conformed to 2016 World Health Organization （WHO） diagnostic criteria were retrospectively analyzed from clinical characteristics, laboratory features and treatment methods. Results The peripheral blood white blood cell count （WBC） of 5 CNL patients was significantly increased, and the average WBC was 81.26×10^-9/L [（29 -217） ×10^-9/L]. Morphological analysis of peripheral blood cell showed a sustained increasing number of matured neutrophilia （0.80-0.85）. Neutrophil alkaline phosphatase （NAP） activity was increased （144-266）. Bone marrow cell morphology typically showed granulocyte proliferation without obvious dysplasia. Gene detection showed 3 patients with CSF3R T618I mutation and 2 patients with JAK2 V617F mutation in 5 WHO-defined CNL patients. Bone marrow biopsy with reticular staining showed that marrow fibrosis （MF） degree in patients with JAK2 V617F mutation （MF ≥2） was higher than that in patients with CSF3R T618I mutation （MF〈2）. Conclusions CNL is a rare type of chronic leukemia, and CSF3R T618I mutation is a specific diagnostic index for CNL. JAK2 V617F mutations alone may be related to myelofibrosis, which remains to be further studied.

关 键 词：白血病 髓样 慢性期 细胞形态 基因 受体 集落刺激因子 JANUS激酶2 

分 类 号：R733.72[医药卫生—肿瘤]