Characteristics And Clinical Significance Of Gene Mutation In Patients With Myelodysplastic Syndrome

Objective:To investigate the characteristics of gene mutations in patients with myelodysplastic syndromes(MDS)and their prognostic significance.Methods:Retros pectively collected in the first affiliated hospital of xinjiang medical university hosp ital between January 2017 and December 2020,210 cases of patients with MDS,u sing the second generation sequencing technology to detect MDS related 34 kinds of mutations,analysis of gene mutation and age,blood routine,proportion of primi tive cells,bone marrow disease subtype,revision of the international prognostic sys tem(IPSS-R)integral,etc,the relationship between gene mutation of prognostic sig nificance is discussed.Results:1.A total of 142 patients(67.6%)had gene mutation,and the mutation rate from high to low was ASXL1(20.48%);TET2(17.14%);U2AF1(14.29%);DNMT3A(11.9%);TP53(10.48%);RUNX1(10.00%);SF3B1(8.1%);BCOR(8.1%);NF1(7.1%);EZH2(5.2%).According to the functional group of the genes,the m utation rates were as follows: epigenetic related genes(40.0%),spliceon-related gen es(27.1%),transcription factors(16.7%),signal transduction related genes(13.8%),cell cycle and apoptosis related genes(13.8%).2.The mutation rates of ASXL1,TP53 and RUNX1 genes in ≥50 years old patients were higher than those in < 50 y ears old patients(all P<0.05);The incidence of epigenetic related gene mutations in creased with age(P=0.040).3.The proportion of bone marrow blasts in the gene mu tation group was higher than that in the non-gene mutation group(P<0.001).4.The incidence of gene mutation is different in different subtypes;SF3B1 mutation was m ainly found in MDS-RS subtype.The proportion of ≥3 mutations in EB-1 and EB-2subtypes was significantly higher than that in SLD,MLD and RS subtypes(P<0.001).5.The incidence of gene mutation in higher risk group of IPSS-R was higher than that in lower risk group of IPSS-R(P=0.001);The mutation rates of TP53,B COR and NF1 genes in the high-risk group were higher than those in the low-risk group(all P<0.05).6.OS of TP53 mutant group was lower than that of non-mutant group(P<0.001);OS in SF3B1 mutant group was higher than that in non-mutant g roup(P=O.018).The higher the number of mutations,the shorter the OS(P=0.004).Conclusion:The common mutations in MDS patients are as follows: ASXL1,TET2,U2AF1,DNMT3 A,TP53,RUNX1,SF3B1,BCOR,NF1,and EZH2.Mutations most often involve epigenetic and splicoson-related genes.Gene mutation is closely related to clinical features and prognosis.