CAJ | 학술논문

目的研究多发性骨髓瘤(MM)常见的分子遗传学异常14q32易位与13q14缺失及其与临床指标的关系.方法采用间期荧光原位杂交(I-FISH)技术应用RB1、D13S319和LSI IGHC/IGHV探针检测49例MM患者骨髓标本中RB1基因、13q14.3缺失及14q32易位,结合临床资料作统计分析.结果 49例MM患者有26例(53.1%)检测到14q32易位,25例(51.02%)存在13q14缺失(其中18例检测到13q14.3缺失,9例存在RB1缺失).Spearman相关分析显示,14q32易位多见于浆细胞比例高的患者(r=0.316,P=0.27),与患者年龄、国际分期系统(ISS)分期、免疫球蛋白分型、β2微球蛋白及肾损害无相关性(P＞0.05).结论 13q14缺失及14q32相关的易位在MM中发生率均较高,两者有密切相关性;14q32易位的MM患者浆细胞百分比明显升高,14q32易位的检测可作为预测MM预后的指标.
목적 연구다발성골수류(MM)상견적분자유전학이상14q32역위여13q14결실급기여림상지표적관계.방법 채용간기형광원위잡교(I-FISH)기술응용RB1、D13S319화LSI IGHC/IGHV탐침검측49례MM환자골수표본중RB1기인、13q14.3결실급14q32역위,결합림상자료작통계분석.결과 49례MM환자유26례(53.1%)검측도14q32역위,25례(51.02%)존재13q14결실(기중18례검측도13q14.3결실,9례존재RB1결실).Spearman상관분석현시,14q32역위다견우장세포비례고적환자(r=0.316,P=0.27),여환자년령、국제분기계통(ISS)분기、면역구단백분형、β2미구단백급신손해무상관성(P＞0.05).결론 13q14결실급14q32상관적역위재MM중발생솔균교고,량자유밀절상관성;14q32역위적MM환자장세포백분비명현승고,14q32역위적검측가작위예측MM예후적지표.
Objective To investigate the common chromosome abnormalities in the patients with multiple myeloma and the relationships of cytogenetic abnormalities and clinical features. Methods The interphase fluorescence in situ hybridization (I-FISH) analysis method was designed to detect RB1-/13q14-and 14q32 rearrangements in 49 MM patients. The statistic value of its effect on clinical features were determined. Results FISH disclosed 14q32 translocations in 26 of the 40 (53.1%) patients. 25 out of the 49 (51.02 %) cases were found with deletion of chromosome 13q14 included del(RB1) in 9 (18.4 %) and del(13q14.3) in 18 (36.7 %). 13q14 deletion and 14q32 translocation were simultaneously observed in 18 (36.7 %) cases. Spearman correlation analysis were found associated of 14q32 rearrangement with the percentage of plasma cells in bone marrow (r=0.316, P=0.27). Conclusion The frequency of 13q14 deletion and 14q32 gene translocation in multiple myeloma are high. There is a significant correlation between the presence of 14q32 translocations and chromosome 13 abnormalities in MM patients. The percentage of 14q32 translocation in plasma cells was increased significantly. The 14q32 translocation is an independent prognostic factor.