骨髓增生异常综合征MIC异常和临床特点

Abnormalities and clinical characteristics in myelodysplastic syndrome

目的研究骨髓增生异常综合征(MDS)形态学、免疫学、遗传学(M IC)异常变化及临床特点。方法对130例MDS患者的血液学、免疫学、遗传学异常改变资料进行了回顾性分析。结果130例中外周血象全血细胞减少72例(55.4%),4系细胞减少38例(92.3%),分类可见幼红细胞70例(53.8%),幼粒细胞54例(41.5%)。贫血120例(92.3%),以中重度为主116例(89.2%),表现为大细胞或正细胞性贫血。白细胞异常112例(86.2%),以减少为主90例(69.2%)。血小板减少82例(63.1%)。130例行骨髓细胞学检查:增生活跃至极度活跃110例(84.6%),1系或1系以上病态造血108例(83.1%),22例难治性贫血患者病态造血不明显(16.9%)。118例行骨髓病理学检查:3系不同程度病态造血60例(50.8%),粒系幼稚前体细胞异常定位(ALIP)58例(49.2%)。90例行骨髓细胞流式细胞仪(FCM)免疫表型测定,表现2系或2系以上异常80例(88.9%)。82例做FCM-DNA倍体分析,检出DNA非整倍体52例(63.4%)。64例做骨髓细胞染色体分析,发现异常克隆26例(40.6%)。结论MDS临床表现不典型,血液学改变复杂,缺乏特异性,部分RA病态造血不明显,仅依靠形态学难以做出正确诊断,应提倡M IC分型诊断。

Objective To investigate the morphological,immunological and genetic abnormalities and clinical characteristics in myelodysplastic syndrome（MDS）. Methods The hematollgical,immunological and genetic data of 130 MDS were retrospectively analysed. Results The results showed that the incidence of abnormalities in 130 cases were as follows： 72 of trilineage cytopenias （ 55.4% ）, 38 of two lineage cytopenias （29.2%） ,70 of immature red ce11（53.8% ） and 54 of immature myeloid cell（41.5% ） in peripheral blood smears, 120 of anemia（92.3% ） （ macrocytic and mormocytic）, 112 of WBC count abnormalities（ 86.2% ） ,90 of leukopenia（69.2% ） ,82 of thrombocytopenia（63.1% ）. The results of marrow aspirate showed that 110 had hyperplasia （ 84.6% ）, and 108 dysmorphogenesis （ 83.1% ）, 22 RA no dysmorphogendesis （ 16.9% ）. The resuits of marrow biopsy in 118 cases showed that 60 had the dysmorphic cell （50. 8% ）, and 58 ALIP （49. 2% ）. The 90 of 130 cases were evaluated by flow cytometric - immunophenotyping（ FCM - IM）. 80 cases showed two or more than two linesge cell surface markers abnormalities. The 82 of 130 cases were evaluated by FCM - DNA. The incidence if aneuploidy was 63.4%, In 26 out of 64 cases, clonal chromosome abnormalities （40.6%） were found. Conclusion MDS patients are short of specialty in clinical features and hematological changes. Some RA cases are short of dysmorphic cell. It＇s difficult to make acarate diagnosis only according to morphpology. The MIC diagnosis classifications is useful in MDS.