Analysis of clinical features, molecular cytogenetic characteristics and prognostic impact in 30 patients with myelodysplastic syndromes

ZHANG Hongtao; FENG Yaqing; ZHAO Fang; MA Jianhua; ZHANG Yanfang

Abstract：Objective:To analyze the clinical features, molecular cytogenetic characteristics of the patients with myelodysplastic syndromes (MDS), and explore the prognosis of these patients.Methods:A total of 30 newly diagnosed MDS patients were followed up in the study from Jan.2013 to Jan.2017 and the clinical data were retrospectively analyzed.Results:In 30 patients, 38～82 years old, the median white cell count was (0.70～15.81)×109/L, the median hemoglobin level was 34～130 g/L, the median platelet count was (3～410) ×109/L, the median percentage of bone marrow blast cells was 0～16.5％, the median serum ferritin level was 7.55～1 468.00 μg/L.In all patients, 17 cases had normal chromosomal karyotype (56.7％) and 13 cases had abnormal chromosomal karyotype (43.3％).Up to 31 th of May in 2017, there were 17 cases still survival and 13 cases died.There were significant differences in serum ferritin, WHO subtype, the international prognostic scoring system (IPSS) and revised IPSS (IPSS-R) between the dead group and survival group, while no significant differences in sex, age, white cell count, hemoglobin level, platelet count, bone marrow blasts and karyotype.The proportion of abnormalities of karyotypes increased gradually with the increase of the risk of IPSS and IPSS-R and the difference was statistically significant.Mutations in the epigenetic modifiers were detected and the incidence of TET2, ASXL1, EZH2, DNMT3 A mutations were 16.7％, 13.3％, 3.3％ and 3.3％.The median survival time was 1.5～63 months.One-year overall survival was associated with age, karyotype, IPSS and IPSS-R.Conclusion:These results suggest that karyotype, IPSS and IPSS-R were important in predicting the survival of MDS patients.If recurrent gene mutations in the epigenetic modifier can be incorporated into prognostic scoring systems, it might be useful for clinical risk stratification and treatment decisions in the future.