Clinical Features And Prognostic Significance Of SRSF2,SF3B1,U2AF1 And ZRSR2 Genes Mutation In MDS

Objective:The effects of SRSF2,SF3B1,U2AF1 and ZRSR2 gene mutations on the clinical features and prognosis of patients with myelodysplastic syndromes(MDS)were analyzed.Methods:This study collected 67 MDS patients who were diagnosed in the First Affiliated Hospital of Kunming Medical University from March 2017 to December 2019 and underwent next generation sequencing,including 12 patients with SRSF2 mutations,9 patients with SF3B1 mutations,11 patients with mutations and 2 patients with ZRSR2 mutations.Clinical data such as gender,age at onset,peripheral blood cell count,bone marrow picture,WHO clinical diagnosis typing,IPSS-R prognosis staging and co-mutation gene spectrum were collected,and relevant experimental data were analyzed by SPSS20.0 software.Results:1.In this study,34 mutations were found in SRSF2,SF331,U2AF1 and ZRSR2 genes,with a total incidence of 50.7%in MDS.SRSF2,SF3B1,U2AF1 and ZRSR2 gene mutations are mutually exclusive in MDS.2.The incidence of SRSF2 mutation in MDS was 17.9%(12/67).Patients with SRSF2 mutation were older than the wild-type control group.SRSF2 mutation was associated with poor prognosis of MDS.Compared with the wild-type SRSF2 control group,OS significantly decreased,and is an independent risk factor for poor prognosis of MDS.SRSF2 is accompanied by multiple pathway gene mutations,among which the most common are ASXL1,RUNX1 and TET2.Other clinical features such as gender,WBC count,NEU count,HB level,PLT count,bone marrow blast count,WHO clinical diagnostic typing and IPSS-R prognostic risk subgroup distribution showed no significant difference from the control group.There was no significant difference in OS between ipSS-R subgroup and control group.3.The incidence of SF3B1 mutation in MDS was 13.4%(9/67).Compared with the wild-type control group,SF3B1 mutant group was older,with higher platelet count and lower blast cell count,and the difference was statistically significant.SF3B1 mutation was significantly correlated with ring sideroblasts,and SF3B1 mutation was mainly distributed in MDS-MLD and MDS-RS.Compared with the control group,The prognosis was worse in the IPSS-R medium risk group.Other clinical features such as gender,WBC count,NEU count and HB level were not significantly different from the control group.There was no significant difference between SF3B1 mutation and control group OS.4.The incidence of U2AF1 mutation in MDS was 16.4%(11/67).The clinical characteristics of U2AF1 mutation,such as age,gender,WBC count,NEU count,HB level,PLT count,WHO clinical diagnostic typing and IPSS-R prognostic risk subgroup distribution showed no significant difference from the control group.There was no significant difference in OS between the U2AF1 mutation and the wild-type U2AF1 control group,but the OS of the IPSS-R high-risk group was significantly shortened compared with the wild-type U2AF1 control group.5.ZRSR2 mainly occurred in elderly men.The median follow-up time was 27 months,and the median survival time has not been reached yet.Two patients with ZRSR2 mutation were in the IPSS-R medium-risk group.Two mutations,ASXL1 and IDH1,were associated with epigenetic genesConclusion(s):1.SRSF2,SF3B1,U2AF1 and ZRSR2 gene mutations were mutually exclusive in MDS.2.Mutation of SRSF2 gene is associated with older age of onset in MDS patients.SRSF2 gene mutation is an important risk factor for poor prognosis in MDS patients.3.SF3B1 mutation is associated with ring sideroblasts,and SF3B1 mutated MDS patients had older onset age,higher platelet count and lower blast cell count than wild-type patients.It is significant for the prognostic grouping of MDS.4.U2AF1 mutation is another important risk factor for poor prognosis in MDS patients of IPSS-R high-risk group.5.MDS patients with ZRSR2 gene mutation were mainly elderly males,and most of them were in the IPSS-R medium-risk group.