【摘要】 目的 探讨多发性骨髓瘤(MM)的遗传学特征。方法 对61例MM患者实验室检查资料进行回顾性分析。采用骨髓24 h短期培养和R显带技术对其中31例MM患者进行染色体核型分析,10例患者采用间期FISH方法检测IgH基因。结果 61例患者骨髓涂片中骨髓瘤细胞比例0.19~0.94。31例患者中有25例具有足够可供分析的中期分裂象,19例(71.3%)检出异常克隆,其中14q32为最具特征的结构异常,8q24,11q13,13q14和17p13为重要的结构异常;6例检测到IgH基因断裂重排。结论 骨髓形态学涂片分析结合实验室检查指标可诊断MM,而染色体核型检测有助于深入了解MM的发病机制,从而为该病的早期诊断、治疗和预后评估提供一定的理论依据。更多还原

【Abstract】 Objective To explore the molecular and cytogenetic abnormalities in multiple myeloma(MM).Methods The laboratory data of bone marrow smears were retrospectively analyzed in 61 patients of MM.24 hours short-term culture of bone marrow and R banding technology were performed in 31 patients.Among these patients,10 cases were selected for detecting the IgH gene expression by the interval FISH method.Results The proportions of myeloma cells were 0.19--0.94 in bone marrow smears of 61 patients.In 31 patients,25 patients had enough metaphases for analysis;in which 19 cases(71.3%) had abnormal clones,8q24,11q13,13ql4 and 17p13 were important structural abnormalities,where 14q32 rearrangement was the most characteristic abnormal structure,6 patients were detected IgH gene rearrangement.Conclusion Bone marrow smear combined with other laboratory examinations could make the diagnosis of MM.chromosomal abnormalities may help to explore the pathogenesis of MM,and provide a theoretical basis for the early diagnosis,treatment and prognosis of this disease.更多还原