骨髓增生异常综合征伴难治性中性粒细胞减少1例-内科急危重症杂志.PPT

骨髓增生异常综合征伴难治性中性粒细胞减少1例报告 江汉大学附属医院(武汉市第六医院) 1华中科技大学同济医学院附属同济医院 庞博、罗莉、姜薇、瞿维、黄丽芳1、毛汉文、郑玉婷，武汉 430000 摘要 目的：探讨骨髓增生异常综合征（MDS）伴难治性中性粒细胞减少（refractory neutropenia,RN）患者的临床特点，总结1例MDS-RN患者的诊疗体会。方法：回顾性分析1例MDS-RN患者的临床特点，诊治经过，骨髓细胞形态学及遗传学的结果。结果：患者因乏力就诊，血常规：WBC 2.9×109/L, 分类 N 35%, L 56%, M9%, Hb 136g/L, PLT 182×109/L。骨髓象：增生活跃，粒系占57.5%，其中见假P-H畸形、胞浆颗粒减少、分叶障碍等发育异常粒细胞占24%；红系形态末见明显改变；巨核细胞增生，可见胞体小、单圆核巨核细胞。染色体核型检查发现46,xy,add(16)q24[20]。结论：对MDS-RCUD患者，除常规骨髓象，骨髓活检观察细胞形态学外，应做染色体核型分析，2代测序技术检测基因突变，以作出MDS的精准诊断和精准治疗。 关键词 骨髓增生异常综合征 难治性血细胞减少伴单系发育异常 难治性中性粒细胞减少 细胞遗传学 Myelodysplastic Syndrome with Refractory Neutrophils : A Case Report PANG Bo, LUO Li , JIANG Wei,et al. Affiliated Hospital of Jianghan University (The Sixth Hospital of Wuhan), Wuhan 430000, China Abstract Objective: To investigate the clinical features of myelodysplastic syndrome (MDS) in patients with refractory neutropenia (RN) and to summarize the diagnosis and treatment of 1 case of MDS-RN. Methods: The clinical features of 1 case of MDS-RN were analyzed retrospectively, and the results of diagnosis and treatment, morphology and genetics of bone marrow cells were analyzed. Results: The patients were treated with fatigue, routine blood: WBC 2.9 x 109/L, classified N 35%, L 56%, M 9%, Hb 136g/L, PLT 182 x 109/L. Bone marrow elephants: hyperactive, and 57.5% of granulation, among them, the abnormal P-H deformity,cytoplasmic granule decrease, and subphylogenetic abnormality were 24%;at the end of the red line, there is a significant change;macrokaryotic cell hyperplasia, which can be seen in the small and single nucleus monocyte.The karyotype examination revealed 46,xy,add(16)q24 [20]. Conclusions: In patients with MDS - RCUD, in addition to conventional bone marrow and bone marrow biopsy observation of cell morphology, chromosome karyotype analysis should be done, second generation sequencing technology to detect genetic mutations, to make an accurate diagnosis and precise treatment of MDS. Key words Myelodysplastic