[Clinical Characteristics and Prognosis of Myelodysplastic Syndromes Patients with Gene Mutation].

OBJECTIVE

To investigate the clinical characteristics and survival analysis of myelodysplastic syndromes (MDS) with gene mutation.

METHODS

Clinical data of 177 newly diagnosed MDS patients admitted to the Department of Hematology, the Second Affiliated Hospital of Air Force Military Medical University from October 1, 2015 to October 31, 2022 were retrospectively analyzed. Gene mutation detection was performed by second-generation sequencing technology, and clinical characteristics and prognosis of patients with gene mutation were analyzed.

RESULTS

A total of 30 cases (16.95%) of gene mutations were detected, including 15 missense mutations (50.0%), 9 frameshift deletion mutations (30.0%), 4 splice site mutations (13.3%), 1 insertion mutation (3.3%), and 1 nonsense mutation (3.3%). Patients with mutations had a median age of 68.5 years at diagnosis (range: 62.25-78.50 years old). There were no significantly differences between mutations and wild type patients in age distribution, gender, peripheral blood white blood cell count, hemoglobin level, bone marrow and peripheral blood blasts ratio, IPSS-R cytogenetics, IPSS-R stage, etc. ( >0.05). However, there were statistically significant differences in platelet count and whether complicated karyotype. Compared with patients without gene mutation, patients with gene mutation had lower platelet count ( =0.018), and were less likely to have complicatedkaryotype at initial diagnosis ( =0.01). Cox proportional hazards model analysis showed that when other covariates remained unchanged, the higher the platelet count, the better the survival of patients (=0.995, 95% : 0.990-0.999, =0.036); In the IPSS-M prognostic stratification, keeping other covariates unchanged, the risk of progression or death of myelodysplastic syndrome was significantly lower in the medium to high-risk and low-risk groups compared with the high-risk group (=0.149, 95% : 0.031-0.721, =0.018; =0.026, 95% : 0.003-0.234, =0.001). Survival analysis showed that MDS patients with gene mutation had worse overall survival time ( < 0.001). Patients with mutation had worse OS than non-mutation patients in the early WHO group. mutation and IPSS-M risk stratification mean OS and mean LFS were worse in low-risk patients than in non-mutated patients.

CONCLUSION

gene mutation is an adverse prognostic factor in MDS patients, especially in the IPSS-M prognosis stratification group of low-risk, medium-low risk, medium-high risk and WHO classification of early patients.