Study on the relationship between results of detecting gene mutations in 73 patients with myelodysplastic syndrome by second-generation sequencing technology,clinical characteristics,and prognosis
Objective To explore the relationship between results of detecting gene mutations in 73 patients with myelodysplastic syndrome(MDS)by second-generation sequencing technology,relevant clinical characteristics,and prognosis.Methods A retrospective analysis was conducted on 73 MDS patients who underwent second-generation sequencing technology to detect gene mutations at Anhui Provincial Hospital from April 2016 to June 2022.By collecting the patients'gender,age,chromosome karyotype,and gene mutation status,the WHO(2016)typing,IPSS-R risk score,and statistical survival time and status were determined.The differences in gene mutation frequency distribution in gender,age,chromosome karyotype,typing,and risk stratification were analyzed and summarized.The impact of different gene mutations on the prognosis and overall survival(OS)of MDS patients was analyzed.Results In 73 MDS patients,a total of 29 gene mutations were detected,among which 79.45%of patients had at least one gene mutation,30.14%had only one gene mutation,21.92%had two gene mutations,27.40%had three or more gene mutations,and 20.55%had no mutations detected.Mutated genes such as TP53,TET2,and SRSF2 have a higher incidence in elderly MDS patients,with statistically significant difference(P<0.05).There was statistically significant difference in the distribution of mutation genes such as DNMT3A,SF3B1,IDH1,and WT1 among different WHO subtypes(P<0.05).There was statistically significant difference in the distribution of mutation genes such as TP53 and U2AF1 with chromosomal karyotypes(P<0.05).TP53 gene mutations are associated with poor prognosis,with statistically significant difference(P<0.05).Conclusion 79.45%of MDS patients have genetic mutations;There are differences in the distribution of some mutated genes among different ages,WHO(2016)typing,and chromosomal karyotypes.This study is based on the data of 73 MDS patients from a single center,and analyzes the correlation between gene mutations,clinical characteristics,and prognosis of patients through NGS evaluation,providing evidence-based medicine basis for guiding differential treatment of MDS in clinical practice.
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