摘要
目的:分析骨髓增生异常综合征(MDS)患者的临床特点及分子细胞遗传学特征,探讨该类患者的预后。方法:回顾性分析2013年1月—2017年1月30例初诊为MDS患者的临床资料,随访观察生存情况并进行相关研究。结果:30例MDS患者年龄38～82岁,白细胞计数(0.70～15.81)×10~9/L,血红蛋白34～130 g/L,血小板计数(3～410)×10~9/L,骨髓原始细胞比例0～16.5%,血清铁蛋白水平7.55～1 468.00μg/L;染色体核型正常17例(56.7%),核型异常13例(43.3%)。截至2017年5月31日,30例MDS患者存活17例,死亡13例。死亡组与存活组比较,血清铁蛋白、WHO分型、国际预后积分系统(IPSS)及修订版IPSS(IPSS-R)之间的差异具有统计学意义,而性别、年龄、白细胞、血红蛋白、血小板、骨髓原始细胞比例、染色体分组比较,差异均无统计学意义。随着IPSS、IPSS-R危险程度的增加,染色体核型异常比例逐渐增加,差异具有统计学意义。表观遗传学调节子基因TET2、ASXL1、EZH2、DNMT3A突变率分别为16.7%、13.3%、3.3%和3.3%。患者生存时间1.5～63个月,1年生存率与年龄、染色体核型、IPSS、IPSS-R分组明显相关。结论:染色体核型、IPSS、IPSS-R分层对于预测MDS患者生存具有重要意义,将重现性表观遗传学调节子基因突变纳入预后评分系统,可能对未来的临床风险分层和治疗决策有益。
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)×10^9/L,the median hemoglobin level was 34~130 g/L,the median platelet count was (3~410)×10^9/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 31th 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,DNMT3A 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.
作者
章红涛
冯雅青
赵芳
马建华
张艳芳
ZHANG Hongtao;FENG Yaqing;ZHAO Fang;MA Jianhua;ZHANG Yanfang(The Third Hospital of Datong,Datong 037008,China)
出处
《临床医药实践》
2019年第4期247-252,共6页
Proceeding of Clinical Medicine
