Clinical significance and analysis of gene mutation in patients with myelodysplastic syndrome grouped by age 50

LI Jin; HUA Hai-ying; ZHU Wen-yan; WANG Zhi-qing; CHAO Hong-ying

doi:10.19538/j.nk2024100111

Abstract：Objective To investigate the characteristics of gene mutations in patients with myelodysplastic syndrome(MDS)grouped by age 50 and the influence on prognosis.Methods The next-generation sequencing technology was used to detect the blood tumor-related genes in 147 MDS patients in the Affiliated Hospital of Jiangnan University and the second Hospital of Changzhou.The characteristics of gene mutations in patients grouped by age 50,and the relationship between gene mutations and the revised International Prognostic Score System(IPSS-R)was assessed,as well as the impact on patient prognosis.Results There were 53 MDS patients ≤50 years old and 94 patients＞50 years old.Mutation frequencies of RUNX1(37.7％)and ASXL1(24.5％)were＞20％in ≤50 years old group,and those of RUNX1(25.5％),ASXL1(21.3％),DNMT3A(21.3％)and TP53(20.2％)were＞20％in＞50 years old group.SETBP 1,WT1,PHF6 mutation rates were higher in ≤50 years old group(all P＜0.05),whereas SF3B1 mutation rates were higher in＞50 years old group(P=0.031).SRSF2 mutations were only detected in＞50 years old group,and CSMD1 mutations were only identified in ≤50 years old group(both P＜0.05).TP53 had a higher mutation rate in IPSS-R relatively high-risk group(P=0.028),while ETV6,CSMD1(≤50 years old)and DDX41(＞50 years old)mutations were mainly found in relatively low-risk group(all P＜0.05).The 3-year overall survival(OS)of MDS patients aged 50 years or younger was superior to that of patients over 50 years old(PP＜0.00 1).Patients with IDH1,NRAS,DNMT3A and SETBP1 mutations who were over 50 years old had worse 3-year OS than those aged 50 years or younger(all P＜0.05).The 3-year OS of patients aged 50 years or younger in high-risk and very high-risk IPSS-R groups was significantly better than that of patients over 50 years old(all P＜0.05).Multivariate analysis indicated that age over 50 years,IPSS-R high-risk group,very high-risk group and IDH1 and FLT3 gene mutations were independent risk factors for poor prognosis.Conclusion There are differences in the gene mutation spectrum of MDS patients among the two age groups and different IPSS-R groups.Patients over 50 years old with the same gene mutation,IPSS-R high-risk or very high-risk group have poorer OS than those aged 50 years or younger.Older than 50 years,IPSS-R high-risk group,very high-risk group,IDH1 and FLT3 gene mutations were independent risk factors affecting the prognosis of patients.