[Correlation between U2AF1 Gene Mutation Characteristics and Clinical Manifestations and Prognosis in Patients with Myelodysplastic Syndrome].

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 U2AF1S34 mutated group and U2AF1Q157/R156 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 U2AF1S34 mutated group and U2AF1Q157/R156 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 U2AF1S34 mutated group and U2AF1Q157/R156 mutated group. Transplantation shows no significant benefit for patients with U2AF1 mutation.骨髓增生异常综合征患者U2AF1基因突变特征与临床表现及预后的相关性.探究骨髓增生异常综合征（MDS）患者U2AF1基因突变特征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进行二代测序（NGS）检测的203例MDS患者资料。根据患者有无U2AF1基因突变，将患者分为U2AF1突变组和U2AF1非突变组，并对2组患者的基因突变特征与临床表现及预后关系进行了分析；根据U2AF1突变位点，分为U2AF1S34突变和U2AF1Q157/R156突变2组，分析2组患者的基因突变特征及预后影响.11.3%（23/203）的MDS患者存在U2AF1突变，U2AF1等位基因突变频率为32.5%。U2AF1突变组男性比例明显高于U2AF1非突变组（P=0.001）。U2AF1突变组无1例患者为染色体复杂核型或TP53突变。2组患者年龄、血液学参数、骨髓原始细胞比例、WHO 2016分型、IPSS-R危险分层、5q-、 -7/7q-、20q-、+8等染色体异常及ASXL1、DNMT3A、RUNX1、SF3B1、SRSF2等基因突变差异均无统计学意义。与U2AF1非突变组相比，U2AF1突变组患者的生存时间（P=0.377）、转化为白血病时间（P=0.681）及对去甲基化药物的总反应率（P=0.556）差异均无统计学意义。此外，U2AF1S34和U2AF1Q157/R156两种突变类型患者的性别、诊断年龄、WHO 2016分型、IPSS-R危险分层、血液学参数比较，差异无统计学意义；生存时间（P=0.347）和转化为白血病时间（P=0.187）差异亦无统计学意义.本研究结果提示，U2AF1基因突变不影响MDS患者总生存时间、转化为白血病率以及对去甲基化药物的反应率。U2AF1S34和U2AF1Q157/R156这2种突变类型的MDS患者临床特点和预后无差异。移植治疗对于U2AF1突变患者无明显获益.