骨髓增生异常综合征临床特点及预后分析  

AN ANALYSIS OF CLINICAL FEATURES AND PROGNOSIS OF PATIENTS WITH MYELODYSPLASTIC SYNDROME

作　　者：张婷[1] 牟俊宇 孟繁军[1] ZHANG Ting;MU Junyu;MENG Fanjun(Department of Hematology,The Affiliated Hospital of Qingdao University,Qingdao 2666500,China)

机构地区：[1]青岛大学附属医院血液内科,山东青岛266500 [2]青岛市市立医院心血管内科

出　　处：《青岛大学学报（医学版）》2022年第4期571-576,共6页Journal of Qingdao University(Medical Sciences)

基　　金：国家重大疾病防治科技行动计划肿瘤防治专项项目(2018ZX-07S-007)。

摘　　要：目的了解骨髓增生异常综合征病人的临床特点、分子遗传学特征及预后。方法回顾性分析2010年9月—2020年9月我院收治、初诊且首次基因突变检测结果为阳性的骨髓增生异常综合征病人125例的临床资料,对所有病人进行随访,分析影响预后的因素。结果随访1~84个月,生存组(n=94,随访结束仍存活且未转归为急性髓系白血病)与非生存组(n=31,随访结束死亡或转归为急性髓系白血病)性别、年龄、血红蛋白、白细胞、中性粒细胞和乳酸脱氢酶等比较,差异均无显著性(P>0.05);两组血小板、骨髓原始细胞比较,差异有统计学意义(t=2.465、-4.185,P<0.05)。对突变频率>2%的基因进行单因素生存分析及log-rank检验,结果显示,ETV6( χ^(2)=4.820,P<0.05)、MPL( χ^(2)=8.807,P<0.01)、NRAS( χ^(2)=4.690,P<0.05)、KIT( χ^(2)=5.727,P<0.05)及TP53( χ^(2)=7.289,P<0.01)基因与更短的总生存期显著相关。结论基因突变对预测骨髓增生异常综合征病人的预后具有重要意义。Objective To analyze the clinical features,genetic characteristics,and prognosis of patients with myelodysplastic syndrome.Methods A retrospective analysis was performed using the clinical data of 125 patients with myelodysplastic syndrome who were newly diagnosed and first tested positive for gene mutation and admitted to our hospital from September 2010 to September 2020.All patients were followed up to analyze the factors affecting prognosis.Results Comparison of the survival group(n=94,alive without progression to acute myelogenous leukemia at the end of 1-84 months of follow-up)and the non-survival group(n=31,died or progression to acute myelogenous leukemia at the end of follow-up)showed no significant differences in gender,age,hemoglobin,white blood cells,neutrophils,and lactate dehydrogenase(P>0.05),but showed significant differences in platelet(t=2.465,P<0.05)and bone marrow primitive cells(t=-4.185,P<0.05).The univariate survival analysis and log-rank test on genes with mutation frequencies of>2%showed that the genes ETV6( χ^(2)=4.820,P<0.05),MPL( χ^(2)=8.807,P<0.01),NRAS( χ^(2)=4.690,P<0.05),KIT( χ^(2)=5.727,P<0.05),and TP53( χ^(2)=7.289,P<0.01)were significantly correlated with shorter overall survival.Conclusion Gene mutation is of great significance in predicting the prognosis of patients with myelodysplastic syndrome.

关 键 词：骨髓增生异常综合征 DNA突变分析 预后 

分 类 号：R551.3[医药卫生—血液循环系统疾病]