Zhao Wen-Shu, Zhang Yin-Tian, Jiang Qian-Li, Liu Qi-Fa, Dai Min
Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong Province, China.
Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong Province, China,E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Dec;28(6):1977-1984. doi: 10.19746/j.cnki.issn.1009-2137.2020.06.030.
To investigate the correlation between U2AF1 gene mutation and clinical manifestations and prognosis in patients with myelodysplastic syndromes (MDS).
The clinical data of 203 MDS patients who accepted Next Generation Sequencing (NGS) was retrospectively analyzed in Nanfang Hospital, Southern Medical University from December 2012 to October 2019. According to whether the patients had U2AF1 gene mutation, the patients were divided into U2AF1 mutated group and non-mutated group, and the relationship between gene mutation characteristics and clinical manifestations and prognosis was analyzed. Then according to the difference of the mutation site of U2AF1, the patients in U2AF1 mutated group were divided into U2AF1 mutated group and U2AF1 mutated group, and the correlation between gene mutation characteristics and prognosis was analyzed.
The incidence of U2AF1 mutation in MDS patients was approximately 11.3% (23/203), and the mutation frequency of U2AF1 allele was 32.5%. The male ratio in U2AF1 mutated group was significantly higher than that in U2AF1 non-mutated group (P=0.001). There was no patient who had complex karyotypes or TP53 gene mutation in U2AF1 mutated group. There were no significant differences in ages, blood parameters, bone marrow blasts, WHO 2016 classification, IPSS-R category, chromosomal abnormalities like del(5q), -7/del(7q), del(20q), +8, and gene mutation like ASXL1, DNMT3A, RUNX1, SF3B1, and SRSF2 mutation between U2AF1 mutated group and the non-mutated group. Compared with the non-mutated group, there was no significant difference in the overall survival time (P=0.377), the time of acute myeloid leukemia (AML) transformation (P=0.681), and the response rate to hypome- thylating agents in U2AF1 mutated group (P=0.556). Besides, no differences were observed in sex, diagnosis age, WHO 2016 classification, IPSS-R category, blood parameters, overall survival time, and AML transformation time between U2AF1 mutated group and U2AF1 mutated group.
The U2AF1 gene mutation dose not affect the survival time, AML transformation time, and response rate to hypomethylating agents in MDS patients. Besides, there are no statistical differences in the clinical characteristics and prognosis of MDS patients between U2AF1 mutated group and U2AF1 mutated group. Transplantation shows no significant benefit for patients with U2AF1 mutation.
探讨髓系发育异常综合征（MDS）患者U2AF1基因突变与临床表现及预后的相关性。
回顾性分析2012年12月至2019年10月在南方医科大学南方医院接受二代测序（NGS）的203例MDS患者的临床资料。根据患者是否存在U2AF1基因突变，将患者分为U2AF1突变组和未突变组，分析基因突变特征与临床表现及预后的关系。然后根据U2AF1突变位点的差异，将U2AF1突变组患者分为U2AF1突变组和U2AF1突变组，分析基因突变特征与预后的相关性。
MDS患者中U2AF1突变发生率约为11.3%（23/203），U2AF1等位基因突变频率为32.5%。U2AF1突变组男性比例显著高于U2AF1未突变组（P=0.001）。U2AF1突变组无复杂核型或TP53基因突变患者。U2AF1突变组与未突变组在年龄、血液学参数、骨髓原始细胞、2016年世界卫生组织（WHO）分类、国际预后评分系统修订版（IPSS-R）类别、染色体异常如del(5q)、-7/del(7q)、del(20q)、+8以及基因突变如ASXL1、DNMT3A、RUNX1、SF3B1和SRSF2突变方面无显著差异。与未突变组相比，U2AF1突变组的总生存时间（P=0.377）、急性髓系白血病（AML）转化时间（P=0.681）及对去甲基化药物的反应率（P=0.556）均无显著差异。此外，U2AF1突变组与U2AF1突变组在性别、诊断年龄、2016年WHO分类、IPSS-R类别、血液学参数、总生存时间及AML转化时间方面均未观察到差异。
U2AF1基因突变不影响MDS患者的生存时间、AML转化时间及对去甲基化药物的反应率。此外，U2AF1突变组与U2AF1突变组MDS患者的临床特征及预后无统计学差异。移植对U2AF1突变患者无显著益处。
