多发性骨髓瘤中14q32易位与13q14缺失的相关性研究  

Correlation between translocation of 14q32 and deletions of 13q14 in multiple myeloma

作　　者：苏倩倩 谢晓宝 王志林 邱国强 吴浩清 刘佳 曹祥山 

机构地区：[1]大学附属第三医院常州市第一人民血液科,苏州213003

出　　处：《白血病．淋巴瘤》2011年第4期225-228,共4页Journal of Leukemia & Lymphoma

摘　　要：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。方法采用问期荧光原位杂交（I-FISH）技术应用RBl、D13S319和LSIIGHC／IGHV探针检测49例MM患者骨髓标本中BBl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RBl缺失）。Spearman相关分析显示，14q32易位多见于浆细胞比例高的患者（，=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．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-/13ql4and 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 08.4 %） 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.

关 键 词：多发性骨髓瘤 原位杂交 荧光 细胞遗传学 

分 类 号：R733.3[医药卫生—肿瘤]