多指标检测在骨髓增生异常综合征诊断中的应用评估

目的 探讨多指标联合检测对骨髓增生异常综合征(MDS)诊断和分型的临床意义，并初步评估各实验指标的应用价值。 方法 收集江苏省苏北人民医院2010年1月—2014年12月期间确诊为MDS的89例患者临床资料，89例行骨髓细胞形态学和细胞遗传学分析(R显带核型分析)；其中44例行荧光原位杂交技术(FISH)分析，62例完成骨髓活检组织病理学诊断；50例行流式细胞术(FCM)完成细胞免疫表型检测。 结果 ①形态学特征符合MDS诊断与分型标准59.6%(53/89)，在各亚型中差异有统计学意义(P<0.05)；②R显带核型分析检出率67.1%(53/79)，在各亚型中差异无统计学意义(P>0.05)；③同时行R显带核型分析和FISH检测异常染色体检出率为59.5%(22/37)，仅核型分析检出率为54.1%(20/37)，仅FISH检出率为48.6%(18/37)。2种检测方法符合率78.4%(29/37)；④符合MDS病理组织学诊断特征者72.6%(45/62)；FCM免疫学分析，32.0%(16/50)发现异常细胞群；⑤与细胞形态学单一指标相比，联合细胞形态学与遗传学2项指标以及细胞形态学、骨髓活检组织病理学和遗传学三项指标诊断MDS的符合率高(P<0.05)；联合细胞形态学与骨髓活检组织病理学两项指标诊断符合率差异无统计学意义(P>0.05)。 结论 联合多项检测指标，可提高MDS诊断率；形态学、骨髓病理学、细胞遗传学、免疫表型等各检测指标在MDS诊断和分型中各有其特点，均有重要的应用价值。 

Assessment of the multi-target detection in the diagnosis of myelodysplastic syndrome

Objective To explore multi-target joint detection in the diagnosis and classification value for myelodysplstic syndrome(MDS),and assess each experiment index preliminarily. Methods Eighty-nine MDS patients admitted in our hospital from January,2010 to December,2014 were analyzed,89 patients with bone marrow morphology and chromosome karyotype analysis;among them,44 patients were analysed by FISH,62 patients by bone marrow biopsy,and 50 patients were analysed immunophenotype by flow cytometry. Results ①Morphological features and the diagnosis coincidence rate of MDS subtypes was 59.6%(53/89),which showed significant difference between each subtypes in MDS(P<0.05);②The detection rate of R banding karyotype analysis was 67.1%(53/79),which showed no significant difference between each subtypes in MDS(P>0.05);③The detection rate by R banding karyotype analysis and FISH was 59.5%(22/37),the rate was 54.1%(20/37) only by karyotype analysis,and the rate was 48.6%(18/37) only by FISH.The coincidence rate of the two methods was 78.4%(29/37);④By bone marrow biopsy,the diagnosis coincidence rate of MDS was 72.6%(45/62);by FCM,32%(16/50) patients were detected abnormal cells;⑤The diagnosis coincidence rate of morphologic and genetic features were higher than that of single morphological features(P<0.05);and the coincidence rate of combining morphology,biopsy and genetics were higher than single morphological features(P<0.05).⑥The diagnosis coincidence rate of combining morphologic and biopsy and that of single morphology showed no significant difference(P>0.05). Conclusion Combined a number of measurements can obviously promote the diagnostic rate of MDS;Morphology,bone marrow pathology,cytogenetics and immunophenotype detection indexes has important application value on diagnosis and classification of MDS.