骨髓增生异常综合征MIC异常和临床特点

Morphologic and immunologic and genetic 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(MIC)异常变化及临床特点。方法对65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65例中外周血象全血细胞减少36例(55.4%),2系细胞减少19例(29.2%),分类可见幼红细胞35例(53.8%),幼粒细胞27例(41.5%)。贫血60例(92.3%),以中重度为主58例(89.2%),表现为大细胞或正细胞性贫血。白细胞异常56例(86.2%),以减少为主45例(69.2%)。血小板减少41例(63.1%)。65例行骨髓细胞学检查增生活跃至极度活跃55例(84.6%),1系或1系以上病态造血54例(83.1%),11例难治性质血患者病态造血不明显(16.9%)。59例行骨髓病理学检查3系不同程度病态造血30例(50.8%),粒系幼稚前体细胞异常定位(ALIP)29例(49.2%)。45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40例(88.9%)。41例做FCM-DNA倍体分析,检出DNA非整倍体26例(63.4%)。32例做骨髓细胞染色体分析,发现异常克隆13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MIC分型诊断。

Objective： To investigate the morphological immunological and genetic abnormalities and clinical characteristics in myelodysplastic syndrome （MDS）. Method：The hematological, immunological and genetic data of 65 MDS were retrospectively analysed. Result：The results showed that the incidence of abnorrrialities in 65 cases was as follows： 36 of trilineage cytopenias （55.4%）, 19 of two lineage cytopenias （29.2%）, 35 of immature red cell （53.8%） and 27 of immature myeloid cell （41.5%） in peripheral blood smears, 60 of anemia（92.3%）（macrocytic and normocytic） , 56 of WBC count abnormalities （86.2%） , 45 of leukopenia （69.2%）, 41 of thrombocytopenia （63.1%）. The results of marrow aspirate showed that 55 had hyperplasia （84.6%）, and 54 dysmorphogenesis （83.1%）, 11 RA no dysmorphogenesis （16.9%）. The results of marrow biopsy in 59 cases showed that 30 had the dysmorphic cell （50.8%）, and 29 ALIP （49.2%）. The 45 of 65 cases were evaluated by flow cytometric-immunophenotyping （FCM-IM）. 40 cases showed two or more than two lineage cell surface markers abnormalities. The 41 of 65 cases were evaluated by FCM-DNA. The incidence of aneuploidy was 63.4%. In 13 out of 32 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 difficalt to make accarate diagnosis onle according to morphpology. The MIC diagnosis classifications is useful in MDS.