世界卫生组织标准在骨髓增生异常综合征诊断分型中的应用

Application of WHO standards in diagnose and classification of MDS

目的依据世界卫生组织（WHO）标准对249例骨髓增生异常综合征（MDS）进行诊断分型。方法根据WHO（2008）标准对249例MDS行细胞形态学、细胞遗传学、免疫表型分析及骨髓病理活组织检查诊断。结果所有MDS病例外周血成熟红细胞均见有巨大形与椭圆形改变；幼红、幼粒细胞、Pelger样核异常细胞与无颗粒中性粒细胞检出率随分型进展而增高；骨髓发育异常细胞特点及比例随MDS亚型进展而更明显、更高；经动态随访观察，MDS随分型进展其转急性白血病（AL）率增高（P〈0．05）；148例患者行免疫表型分析，随分型进展髓系特异性抗原（CD33）表达逐渐增加；138例患者行染色体检查，其中异常核型表达53例（38．7％），主要见于20q-和＋8，复杂异常核型16例（28％），其中5q-2例；180例患者同时行骨髓活组织检查，19例具有形态异常，符合MDS诊断，42例伴有骨髓纤维化。结论依据WHO标准多指标联合检测MDS有助于更准确的分型及诊断，进行长期追踪随访有助于判断预后。

Objective To diagnose and classify 249 patients with myelodysplastic syndrome （MDS） according to the WHO standards. Methods According to the WHO standards, cell morphology,eytogeneties, immune phenotype and bone marrow pathologic biopsy in 249 cases of MDS were analyzed. Results Great shape and oval cell of mature erythrocyte could be observed in all MDS patients peripheral blood. The incidence of immature erythrocyte, immature granulocyte, pelger-like abnormal nucleus and neutrophils cells without granular increased with subtypes progressing. These abnormal characteristics and proportion tended to more apparent with MDS subtypes progressing. With the dynamic follow-up, we found the rate of MDS transition to AL increased with subtypes progressing（P〈0.05 ）. The immune phenotype analysis of 148 patients was undertook and found that the trend to express myeloid specific antigen （CD33） increased gradually with subtypes progressing. The chromosome inspection in 138 patients was undertook and found that 53 patients （38.7 % with abnormal karyotype, mainly in 20q- and ＋8; 16 cases with complex abnormal karyotype （28 %）, two patients in 5q-. 180 patients were underwent bone marrow biopsy at the same time and found that 19 patients with abnormal morphology; 42 patients with bone marrow fibrosis. Conclusions Combining with multiple index to detect the MDS contributes to the classification and diagnosis more accurately and long-term follow-up helps to judgment the prognosis.