Analysis of gene mutation characteristics in patients with chronic neutrophilic leukaemia
Analysis of gene mutation characteristics in patients with chronic neutrophilic leukaemia
复制标题
慢性中性粒细胞白血病患者基因突变特征分析
DOI：
10.1080/16078454.2019.1642554
复制
发表时间：
2019-01-01
期刊：
影响因子：
1.9
通讯作者：
Wang, Hong Wei
中科院分区：
文献类型：
--
作者：
Yin, Bin;Chen, XiuHua;Wang, Hong Wei
摘要目的：探讨慢性嗜中性粒细胞白血病（CNL）的基因突变特点。方法：本研究回顾性分析了2014年5月至2016年10月山西医科大学第二医院收治的4例CNL患者的分子生物学特征、实验室特征和临床资料。在22例CNL和4例CNL患者的分子生物学资料的基础上，进一步分析CNL的分子突变特点。结果如下：4例CNL患者中2例为集落刺激因子3受体（CSF3R）突变携带者，其中2例为CSF3R T618I突变合并ASXL1突变和SETBP 1突变携带者，2例为JAK 2 V617F突变携带者。根据22例CNL患者的分子生物学资料，20例患者CSF3R突变阳性。2例患者JAK2 V617F突变阳性。10例患者的SETBP 1基因突变阳性，与CSF3R T618I基因突变相关（P = 0.03）。共有13例患者ASXL1突变阳性。没有患者携带ASXL2和MPL基因突变。结论和讨论：CNL的主要致瘤突变为CSF3R突变，其中以CSF3R T618I突变为主，极少数CNL患者可能由JAK2 V617F突变引起。CSF3R突变的CNL中，SETBP 1和ASXL 1是最常见的伴随突变，SETBP 1和CSF3R T618I突变可能存在一定的相关性。
ABSTRACT Objective: This study aims to investigate the gene mutation characteristics of chronic neutrophilic leukaemia (CNL). Method: This study retrospectively analyses the molecular biological characteristics, laboratory characteristics and clinical data of four patients with CNL that were admitted in the second Hospital of Shanxi Medical University from May 2014 to October 2016. On the basis of the molecular biological data of 22 patients with CNL and 4 patients with CNL, we further analysed the characteristics of CNL molecular mutation. Results: Two out of the four patients with CNL were carriers of colony-stimulating factor 3 receptor (CSF3R) mutation, among which two were carriers of CSF3R T618I mutation combined with ASXL1 mutation and SETBP1 mutation, and two were only carriers of JAK2 V617F mutation. According to the molecular biological data of 22 patients with CNL, 20 patients were positive for CSF3R mutation. Two patients were positive for JAK2 V617F mutation. A total of 10 patients were positive for SETBP1 mutation which was correlated with the CSF3R T618I gene mutation (P = 0.03). A total of 13 patients were positive for ASXL1 mutation. No patients carried mutations in ASXL2 and MPL genes. Conclusion and Discussion: CSF3R mutation is the main tumorigenic mutation in CNL, in which CSF3R T618I mutation is the main mutation, and an extremely small number of CNL patients may be caused by JAK2 V617F mutation. SETBP1 and ASXL1 are the most common concomitant mutations in CNL with CSF3R mutation, and SETBP1 and CSF3R T618Imutations may have a certain correlation.