骨髓增生异常综合征细胞遗传学特征与临床的关系  

Relationship between cytogenetic characteristics and clinical features of myelodysplastic syndrome

作　　者：邓琳 刘文[1,3] 李英 张月阳[1] 魏婷 唐陶 刘青松 DING Lin;LIU Wen;LI Ying;ZHANG Yue-yang;WEI Ting;TANG Tao;LIU Qing-song(Department of Medical Laboratory,North Sichuan Medical College;Prenatal Diagnosis Center,Affiliated Hospital of North Sichuan Medical College,Nanchong 637000,Sichuan,China;Department of Laboratory Medicine,Affiliated Hospital of North Sichuan Medical College,Nanchong 637000,Sichuan,China)

机构地区：[1]川北医学院医学检验系 [2]川北医学院附属医院产前诊断中心,四川南充637000 [3]川北医学院附属医院检验科,四川南充637000

出　　处：《川北医学院学报》2021年第6期719-722,共4页Journal of North Sichuan Medical College

基　　金：四川省南充市市校合作项目(NSMC20170438);川北医学院附属医院重点项目(2020ZD021)。

摘　　要：目的:探讨骨髓增生异常综合征(MDS)细胞遗传学特征与临床的关系。方法:选取61例MDS患者为研究对象,按照有无染色体核型异常分为核型正常组(n=34)和核型异常组(n=27);检测患者骨髓染色体核型,分析其与临床的关系。结果:核型异常组的血小板计数(PLT)及中性粒细胞(PMN)低于核型正常组(P<0.05),且更易出现外周血三系减少(P<0.05);IPSS-R和IPSS预后分层显示,危险度越高,染色体异常核型检出率越高(P<0.05);病态造血骨髓细胞形态显示,核型异常组红系巨幼样变、环形铁粒幼红细胞、核畸形幼红细胞改变较核型正常组明显(P<0.05);核型异常组患者生存期短于核型正常组(P<0.05),死亡率高于核型正常组(P<0.05)。结论:骨髓染色体核型检测对MDS患者的病情评估、预后及转归等均有重要意义,复杂核型与红系病态造血关系密切。Objective:To explore the relationship between cytogenetic characteristics and clinical features of myelodysplastic syndrome(MDS).Methods:61 patients with MDS were divided into normal karyotype group(n=34)and abnormal karyotype group(n=27)according to whether there was chromosomal karyotype abnormality.The bone marrow chromosome karyotype were detected and its relationship with clinical were analyzed.Results:The platelet count(PLT)and neutrophil count(PMN)in the abnormal karyotype group were lower than those in the normal karyotype group(P<0.05).The three-line of peripheral blood prone to reduced in abnormality karyotype group compared with the normal karytype group(P<0.05).On the basis of IPSS-R and IPSS integration system,the higher the risk,the higher the detection rate of chromosome abnormality(P<0.05).In terms of morphological results of bone marrow,compared with normal karyotype group,there were significant erythrocyte changes in complex karyotype group,such as megaloblastoid changes,malformed nuclear erythrocytes,ring sideroblasts(P<0.05).The median survival was lower than those with normal karyotype(P<0.05).The mortality rate of abnormal karyotype was significantly higher than that of normal karyotype(P<0.05).Conclusion:The chromosome karyotype has great significance for the evaluation,treatment and prognosis of MDS.The dysplasia is closely related to complex karyotype.

关 键 词：骨髓增生异常综合征 染色体 核型分析 国际预后积分系统 病态造血 

分 类 号：R551.3[医药卫生—血液循环系统疾病]