Clinical characteristics and prognostic analysis of gene mutations in Myelodysplastic Syndrome

Myelodysplastic syndromes (MDS) are heterogeneous clonal diseases characterized by cytopenia caused by ineffective hematopoiesis and high risk of transformation into acute myeloid leukemia (AML). Genetic mutations are an essential pathogenesis of MDS. In order to analyze gene mutations, clinical features, and their correlation with survival prognosis in patients with MDS, Clinical data of 248 MDS patients were selected for statistical analysis. The gene chip dataset was obtained from GEO and subjected to bioinformatics analysis. Among 248 MDS patients, TET2 was the most common mutated gene (31%), followed by SF3B1 (26%), ASXL1 (23%), SRSF2 (14%), DNMT3A (12%), and RUNX1 (11%). Age, gender, and ASXL1 mutations are independent prognostic factors for OS. Survival analysis showed that co-mutations in the EZH2 or ETV6 genes significantly reduced the survival time of patients with ASXL1 mutations. Based on the KEGG and IPP analysis results, the MYC gene may be related to the mechanism of action of ASXL1 mutation in MDS patients. Our research findings demonstrate a correlation between gene mutations and survival outcomes. Mutations in ETV6 or EZH2 co-mutations are associated with poorer clinical outcomes in MDS patients carrying ASXL1mt and suggest that MYC may become a potential therapeutic target for MDS patients carrying ASXL1 mutations.