Objective: To investigate the characteristics of gene mutation, clinical characteristics and significance in acute leukemia (AL) patients.
Methods: The clinical data of 102 AL patients in Hebei General Hospital from September 2016 to September 2020 were collected and analyzed retrospectively, including the characteristics of gene mutation, age, peripheral blood cells, bone marrow blasts, leukemia subtypes and myeloperoxidase (MPO).
Results: The total gene mutation rate was 87.25% (89/102) in all 102 patients. A total of 275 gene mutations were detected, with an average of 2.70 gene mutations per patient. The most frequent mutations of 102 patients were as follows: CEBPA (6.91%), NPM1 and ASXL1(6.18%), TET2 (5.82%), DNMT3A (5.45%), IDH2 and FLT3-ITD (5.09%). Gene mutations often occurred simultaneously. CEBPA mutation occurred in 10 cases of M2 subtype, while TET2 mutation occurred in 9 cases of M2 subtype. Among the most common gene mutations in MPO low expression group, mutation rates of NPM1, DNMT3A, IDH2, SF related gene mutation and RUNX1 were significantly different than those in MPO high expression group (all P<0.05). Univariate analysis showed that age, NPM1, DNMT3A and FLT3-ITD had significant effects on leukocyte level. Logistic regression analysis showed that patients with positive NPM1 mutations may had higher leukocyte levels (p=0.038), and those with positive DNMT3A mutations may had higher platelet levels (p=0.042).
Conclusion: The incidence of gene mutation in patients with AL is high, and it often occurs simultaneously. CEBPA and TET2 gene mutations are more common in M2 subtype. In patients with MPO low expression, the most common gene mutations are NPM1, DNMT3A and IDH2. AL patients with NPM1 gene mutation had higher white blood cell levels, while with DNMT3A gene mutation had higher platelet levels.
题目: 急性白血病患者基因突变与临床特征分析.
目的: 探讨急性白血病（AL）患者基因突变特点及其临床特征和意义.
方法: 回顾性分析2016年9月至2020年9月河北省人民医院收治的102例初诊AL患者基因突变特点，以及患者年龄、外周血细胞、原始细胞、白血病FAB分型、髓过氧化物酶（MPO）表达等临床特征.
结果: 102例AL患者中，基因突变阳性89例（87.25%）。共检测到275次基因突变，平均每例患者发生2.70个基因突变。突变检出率由高到低依次为CEBPA（6.91%），NPM1、ASXL1（6.18%），TET2（5.82%），DNMT3A（5.45%），IDH2、FLT3-ITD（5.09%），基因突变常伴发出现。CEBPA突变发生在M2亚型10例，TET2突变发生在M2亚型9例；MPO低表达组最常见的基因突变中，NPM1、DNMT3A、IDH2、RUNX1、SF相关基因突变发生率较MPO高表达组差异均有统计学意义（均P<0.05）。单因素分析发现患者年龄、NPM1、DNMT3A、FLT3-ITD对白细胞水平的影响有意义；Logistic回归分析发现NPM1突变阳性者可能有更高的白细胞水平（p=0.038），DNMT3A突变阳性者可能有更高的血小板水平（p=0.042）.
结论: AL患者基因突变发生率较高，且常伴随出现。CEBPA及TET2基因突变更常见于M2亚型。MPO低表达患者最常见的基因突变为NPM1、DNMT3A及IDH2。伴随NPM1基因突变的AL患者有更高的白细胞水平，伴随DNMT3A基因突变的AL患者有更高的血小板水平.
Keywords: acute leukemia; clinical feature; gene mutation.