低增生性骨髓增生异常综合征与再生障碍性贫血的鉴别

The differential diagnosis between hypoplastic myelodysplastic syndrom and aplastic anemia

目的探讨实验室检查指标在低增生性骨髓增生异常综合征(Hypo-MDS)和再生障碍性贫血(AA)鉴别诊断中的价值。方法对16例Hypo-MDS,59例AA患者的血象、骨髓象、骨髓病理以及细胞遗传学特点进行回顾性分析,长期随访并比较。结果 Hypo-MDS外周血涂片可见原始粒细胞、有核红细胞、成熟粒细胞颗粒缺如、假Pelger-Huet畸型、成熟红细胞大小明显不均,多形性,而AA患者未见上述特征。Hypo-MDS骨髓涂片红系、粒系、巨核系病态造血分别占87.5%、62.5%、37.5%,仅20.3%AA患者有单一红系轻度病态造血。16例Hypo-MDS患者中,11例骨髓涂片,所有患者骨髓切片CD34+细胞≥1%,而AA患者CD34+细胞均≤0.4%。Hypo-MDS的异常核型检出率(37.5%)较AA(3.57%)明显增高,且AA均为小克隆异常。结论长期随访中,形态学、免疫化学及细胞遗传学的联合检测是低增生性骨髓增生异常综合征与再生障碍性贫血鉴别的必要手段。

Objective To explore the value of whether laboratory features are helpful in the differential diagnosis of hypoplastic myelodysplastic syndrom（Hypo-MDS） from aplastic anemia（AA）.Methods A retrospective study of 16 Hypo-MDS and 59 AA patients was performed by combined examination with blood routine in test,bone marrow aspiration,bone marrow biopsy,and bone marrow cytogenetics,follow up in a long term and compare those films when they were repeated tests.Results It was can be seen that the myeloblasts,nucleated RBCs,hypogranular neutrophils,pseudo Pelger-Huet anomaly neutrophils,Anisocytosis and Poikilocytosis present in the peripheral blood smear of Hypo-MDS,but none was shown in AA.The frequency of morphological dysplasia of erythrocytes,granulocytes and megakaryocytes within bone marrow aspiration in Hypo-MDS patients were 87.5%,62.5% and 37.5%,respectively.Only 20.3% AA patients showed mild erythroid dysplasia.CD34＋ cells≥1% were appeared in 11of 16 bone marrow aspiration and all biopsy of Hypo-MDS,but none of AA patients.The frequency of clonal chromosomal abnormalities was much higher in Hypo-MDS than in AA（37.5% vs 3.57%）,and the abnormal clone in AA comprise only a small proportion of total metaphases.Conclusion Combinated studies of morphology and cytogenetic with long-term follow up may serve as an important tool for distinguishing between Hypo-MDS and AA.