[Clinical Characteristics and Prognostic Significance of Gene Mutations in Myelodysplastic Syndromes].

Objective: To explore the mutation of gene in patients with myelodysplastic syndromes (MDS), and explore their correlation with mutations of other genes, clinical features and prognostic of patients.

Methods: High throughput DNA sequencing was used to identify mutations in common blood tumor genes. The mutational characteristics of the gene and the correlation between gene mutations and patients clinical characteristics and prognosis were retrospectively analyzed.

Results: The incidence of mutations in 131 MDS patients was 9.16%. The genes with a mutation rate greater than 10% were (24.43%), (20.61%), (19.85%), (15.27%), (14.50%) and (11.45%). The most common co-mutation gene of mutations was (50%, 6/12). There was no significant difference between the mutation and the wild-type groups in sex, peripheral leukocytes, hemoglobin, platelet levels, MDS subtype, karyotype, and bone marrow blast counts ( >0.05). The transformation rate in mutation group was higher than that in wild-type group ［54.55%(6/11) . 25.29%(22/87), < 0.05］. The median OS of patients with mutation was significantly low than that in the wide-type group.

Conclusion: mutation had a modest incidence in MDS patients, which was often coexists with mutation. Patients with mutations were more likely to progress to AML than the wild-type group.