五联综合诊断技术对骨髓增生异常综合征诊断价值的临床研究  

Diagnostic value of MICM classification for myelodysplastic syndrome:a clinical report of 248 patients

作　　者：刘灵[1] 杨再林[2] 陈洁平[2] 张勇[2] 

机构地区：[1]第三军医大学西南医院预防保健科,重庆400038 [2]第三军医大学西南医院血液病中心,重庆400038

出　　处：《第三军医大学学报》2014年第11期1208-1212,共5页Journal of Third Military Medical University

摘　　要：目的探讨骨髓涂片、骨髓活检、染色体核型显带分析、荧光原位杂交(fluorescence in situ hybridization,FISH)及流式细胞术(flow cytometry,FCM)五联综合诊断技术单用和联用对骨髓增生异常综合征(myelodysplastic syndrome,MDS)的诊断价值。方法收集2010年10月至2013年11月在我院经细胞形态学、免疫学、细胞遗传学及分子生物学(morphologie,immunophenotypie,cytogenetic,molecular,MICM)联合检测,并根据WHO造血组织和淋巴系统肿瘤分类的标准确诊为MDS的患者情况,并分析单项(骨髓涂片)、双联(骨髓涂片+活检)、三联(骨髓涂片+活检+染色体)、四联(骨髓涂片+活检+染色体+FISH)和五联(骨髓涂片+活检+染色体+FISH+FCM)诊断符合率及其在分型、预后评估中的作用。结果在248例确诊的MDS患者中,双联诊断符合率为79.44%,三联和四联诊断符合率分别为87.10%、88.71%,五项联合诊断符合率可高达93.15%,均高于骨髓涂片单项诊断符合率(59.27%,P<0.05)。在MDS亚型分型及预后评估方面,五项联合应用辅以骨髓纤维组织的有无及增生程度、染色体核型情况及其复杂程度、抗原异常表达这3个参数均有助于提高MDS诊断及预后评估的准确性。结论应用MICM五联综合诊断技术能有效提高MDS诊断水平,对其亚型分型、预后治疗评估具有重要的临床价值。Objective To determine the potential diagnostic value for myelodysplastic syndrome （MDS） by combining the following methods： bone marrow smear, biopsy, chromosome banding analysis, flow cytometry （FCM）, and fluorescence in situ hybridization （FISH）, namely MICM classification. Methods All MDS patients admitted in our hospital from October 2010 to November 2013 were retrospectively analyzed, and those diagnosed as MDS according to the criteria formulated by WHO were enrolled in this study. Diagnostic compliance rate was analyzed by comparing the gold standard of diagnosis by WHO criteria with single test （bone marrow smear）, double test （bone marrow smear plus biopsy）, triple test （above 2 plus chromosome banding analysis）, test （above 3 plus FISH）, and quintuple test （above 4 plus FCM） respectively. The diagnostic value of MICM classification on subtype identification and prognosis assessment were also evaluated. Results Among the 248 patients with confirmed MDS, the diagnostic compliance rate was 79.44%, 87.10%, 88.71% and 93.15% respectively for double, triple, quadruple and quintuplet tests, and all of these were significantly higher than using bone marrow smear alone （59.27%, all P〈0.05）. Quintuplet test also had significant value in the reticulin fibrosis and its severity, chromosomal karyotypes and its complexity, antigen expression and aberrant immunophenotype. Conclusion Our quintuplet test not only contributes to more precise and reliable diagnosis of MDS, but also benefits accurate identification of MDS subsets and prognosis assessment. So this combined diagnostic methods should be applied to routine clinical testing for MDS.

关 键 词：骨髓增生异常综合征 骨髓涂片 骨髓活检 染色体分析 荧光原位杂交 流式细胞术 

分 类 号：R442.8[医药卫生—诊断学] R446[医药卫生—临床医学]