[Analysis of Gene Mutation and Clinical Characteristics Related to Myelodysplastic Syndrome].

Objective: To explore the characteristics of gene mutation in patients with myelodysplastic syndrome (MDS) and its correlation with clinical features.

Methods: From January 2017 to December 2021, 172 patients with MDS in The First Affiliated Hospital of Bengbu Medical University were analyzed retrospectively. Fourteen high frequency genes related to MDS were detected, and the relationship between gene mutation and clinical characteristics of patients as well as revised International Prognostic Scoring System (IPSS-R) was analyzed. The impact of gene mutations on prognosis was explored.

Results: Among 172 patients, there were 101 males and 71 females, with a median age of 67 (15-89) years old, and gene mutations were detected in 88 cases (51.2%). The genes with mutation incidence >5% were arranged in descending order as follows: TET2 (16.9%), RUNX1 (12.8%), ASXL1 (12.2%), CEBPA (8.1%), TP53 (7.0%) and DNMT3A (6.4%). According to biological functional classification, the genes with the highest mutation frequency were epigenetic regulatory genes (36.6%). The proportion of primitive bone marrow cells in mutation group was higher than that in non-mutation group (P < 0.001). The incidence of gene mutation varied in different MDS subtypes, and the difference was statistically significant (P < 0.05). The mutation incidence in IPSS-R higher risk group (IPSS-R score >3.5) was 65.7%, which was significantly higher than 30.0% in IPSS-R lower risk group (IPSS-R score ≤3.5) (P < 0.05), and there was a statistically significant difference in the incidence of TP53 gene mutation between the two groups (P < 0.05). Multivariate Cox survival analysis showed that TP53, NPM1 and TET2 gene mutation were independent risk factors affecting prognosis.

Conclusion: MDS patients are prone to gene mutation, and the increasing number of mutations and the presence of TP53, NPM1 and TET2 gene mutation may be factors affecting the prognosis.