CAJ | 학술논문

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。
목적：탐토다발성골수류（MM）적유전학특정。방법대61례MM환자실험실검사자료진행회고성분석。채용골수24 h단기배양화R현대기술대기중31례MM환자진행염색체핵형분석，10례환자채용간기FISH방법검측IgH기인。결과61례환자골수도편중골수류세포비례0.19～0.94。31례환자중유25례구유족구가공분석적중기분렬상，19례（71.3％）검출이상극륭，기중14q32위최구특정적결구이상，8q24，11q13，13q14화17p13위중요적결구이상；6례검측도IgH기인단렬중배。결론골수형태학도편분석결합실험실검사지표가진단 MM，이염색체핵형검측유조우심입료해MM적발병궤제，종이위해병적조기진단、치료화예후평고제공일정적이론의거。
Objective To explore the molecular and cytogenetic abnormalities in multiple myeloma (MM).Methods The la-boratory 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 de-tecting 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,8q24,11q13,13q14 and 17p13 were important structural abnormalities,where 14q32 rear-rangement 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 abnormali-ties may help to explore the pathogenesis of MM,and provide a theoretical basis for the early diagnosis,treatment and prog-nosis of this disease.