Objective: To investigate the incidence, clinical features of U2AF1 gene mutation in patients with acute myeloid leukemia(AML) and its effect of prognosis.
Methods: A total of 161 patients with AML were enrolled. The second-generation sequencing method was used to detect U2AF1 gene mutation, and the relationship between U2AF1 mutation and clinical features, prognosis was analyzed.
Results: The mutation rate of U2AF1 gene in 161 AML patients was 3.73%. The counts of peripheral blood leukocytes and platelets in the U2AF1 gene mutation group were lower than those in the wild type group. The complete response rate of U2AF1 gene mutation group was 66.67%, while that in wild type group was 55.48%, which shows no significant difference between the two groups (P=0.70). The median EFS of wild type group and the mutant group was not reached and reached to 133 days, respectively (P=0.03), while the medium OS in two groups was not reached and reached to 210 days (P=0.01).
Conclusion: The AML patients with U2AF1 mutation positive have a poor prognosis as compared with the wild type group, which may be a poor prognostic factor for acute myeloid leukemia.
题目: 急性髓系白血病患者U2AF1基因突变的临床特征及预后分析.
目的: 探讨U2AF1基因突变在急性髓系白血病（AML）患者中的发生率、临床特点和其对预后的影响.
方法: 选取161例AML患者，应用二代测序方法检测U2AF1基因突变情况并分析其临床特征和治疗预后的关系.
结果: 161例AML患者中，U2AF1基因突变率为3.73%。U2AF1基因突变组外周血白细胞数和血小板数较野生型组低。U2AF1基因突变组完全缓解率为66.67%，野生型组为55.48%，两者无统计学差异（P=0.70）。U2AF1基因野生型组和突变组的中位无事件生存期分别为未达到和133 d（P=0.03）,中位总生存时间分别为未达到和210 d（P=0.01）.
结论: 在急性髓系白血病中，伴有U2AF1基因突变阳性患者的预后较野生型组差，这可能是急性髓系白血病预后不良的一个因素.