Objective: To investigate the expression of CSF3R mutation in acute myeloid leukemia (AML) and analyze its clinical characteristics and prognosis.
Methods: A retrospective study was conducted in 212 patients with AML who were newly diagnosed in the Second Hospital of Shanxi Medical University from January 1th 2018 to June 30th 2021, including 22 patients with CSF3R mutations as mutation group and 190 patients with CSF3R wild type ［66 cases of them were screened by propensity score matching (PSM), as control group］. The early efficacy and survival between the two groups were compared.
Results: The median age of patients in the mutation group was 50(17-73) years old, and the ratio of male to female was 1.2:1 The main types were AML with maturation (11 cases) and acute myelomonocytic leukemia (9 cases). Prognostic stratification was carried out according to the risk stratification system of the European leukemia network in 2017, with 16 cases (72.73%) in the middle and high-risk group. At the initial diagnosis, the median count of white blood cell (WBC) was 44.75(1.30-368.71)×109/L, among which 15 cases (68.18%) were >10×109/L, and the median count of platelet (PLT) was 24(4-55)×109/L. CSF3R T618I (68.18%) was a common mutation site, which had concomitant gene mutations, in which CEBPA mutation was the most common (10 cases, 45.45%), but only existed in CSF3R T618I mutation. The CR/CRi rate was 68.18% and 71.21% in the mutant group and the control group (P >0.05), the median over all survival time was 15 months and 9 months (P >0.05), and the median disease-free survival time was 8 months and 4 months (P >0.05), respectively.
Conclusion: Most AML patients with CSF3R mutation are middle-aged patients, the main types are AML with maturation and acute myelomonocytic leukemia, and most of them have middle and high-risk prognosis. CSF3R mutation may not be an independent prognostic marker for newly diagnosed AML patients.
题目: CSF3R突变对急性髓系白血病患者疗效和生存的影响.
目的: 探讨CSF3R突变在急性髓系白血病（AML）中的表达，并分析其临床特征及预后。.
方法: 回顾性收集2018年1月1日至2021年6月30日在山西医科大学第二医院初诊的AML患者212例，其中22例CSF3R突变AML患者作为突变组，余CSF3R野生型190例，应用倾向评分匹配方法从中筛选出66例作为对照组，比较两组患者的早期疗效及生存差异。.
结果: 突变组患者中位年龄50(17-73)岁，男女比例为1.2∶1，主要见于AML部分分化型（11例）及急性粒-单核细胞白血病（9例），依照2017年欧洲白血病网AML危险度分层体系进行预后分层，预后中高危16例（72.7%）；初诊时外周血中位白细胞44.75(1.30-368.71)×109/L，其中>10×109/L者有15例（68.18%），中位血小板数24(4-55)×109/L；CSF3R T618I（68.18%）为常见突变位点，均存在伴随基因突变，其中伴CEBPA突变最为常见（10例，45.45%），但仅存在于CSF3R T618I突变患者中。突变组和对照组CR+CRi率分别为68.18%和71.21%，比较差异无统计学意义（P >0.05）；两组中位总生存期分别为15和9个月，比较差异无统计学意义（P >0.05）；两组中位无病生存时间分别为8和4个月，比较差异亦无统计学意义（P >0.05）。.
结论: CSF3R突变AML患者多为中青年患者，以AML部分分化型和急性粒-单核细胞白血病为主，中高危预后患者居多，CSF3R突变可能不是初诊AML患者的独立预后标志。.
Keywords:
acute myeloid leukemia;