FISH技术检测122例MM的异常基因及其与浆细胞克隆演进的相关性分析  

Detected abnormal genes of 122 multiple myeloma and its correlation with plasma cell clone evolution analysis by FISH technology

作　　者：曹鹏飞[1,2] 陈方平[1] 谭倩[1] 张颖[1] 李晓林[1] 贺玉香[3] 

机构地区：[1]中南大学湘雅医院血液科,长沙410008 [2]中南大学肿瘤研究所 [3]中南大学湘雅医院肿瘤科

出　　处：《临床血液学杂志》2016年第3期385-388,共4页Journal of Clinical Hematology

摘　　要：目的:探讨荧光原位杂交技术(FISH)检测多发性骨髓瘤(MM)浆细胞异常基因的应用价值,提高对MM克隆演进方面的认识。方法:利用FISH技术检测122例MM患者的5种异常基因,并回顾性分析其临床表现、实验室检查、临床分期。结果:FISH技术检测101例MM患者中1q21扩增37.6%、RB1缺失13.9%、D13S319缺失18.8%、P53缺失9.9%、IGH易位22.8%、两重或多重基因异常18.8%,FISH的总体阳性率为77.2%;而21例冒烟型MM(SMM)中,以上基因异常依次为9.5%、9.5%、14.3%、0、14.3%、4.8%,FISH的总体阳性率为42.9%。经软件分析,MM阳性率明显高于SMM,1q21及P53基因差异有统计学意义(P<0.05),出现双重及多重基因异常及两者的总体阳性率差异也有统计学意义(P<0.05),而且与MM的临床分期相关。结论:FISH可检测MM异常克隆的骨髓瘤细胞,最常见的染色体异常是1q21及IGH重排。SMM与MM的FISH阳性检出率的差异有统计学意义,FISH技术在MM的克隆演进方面研究具有重要应用价值。Objective： To discuss the application value of detecting the abnormal genes of multiple myeloma （MM） by fluorescence in situ hybridization （FISH） and to improve the cognition of clonal evolution of MM. Method：We detected 5 abnormal genes of 122 cases of newly diagnosed MM by FISH technology and the clinical manifestation,laboratory examinations and clinical staging results were retrospectively analyzed. Result： In 101 MM patients, the positive rates of l q21 amplification, deletion of RBl,lack of D13S319, loss of P53, IGH translocation and double or multiple genetic abnormality was 37.6% ,13.9% ,18.8% ,9.9% ,22.8o//oo and 18.8% respectively. FISH＇ s overall positive rate was 77.2%. Meanwhile,in 21 cases of smoldering MM （SMM） ,the above genetic abnormality was 9.5% ,9.5%, 14.3% ,0,14.3% ,4.8^ retrospectively. And the overall positive rate was 42.9%. There were significant difference between MM and SMM in 1q21 and P53 gene （P〈0.05）. And the double and multiple genetic abnormalities and total positive rate also showed the significant difference. These data was associated with the clinical stage of MM. Conclusion：FISH can detect the abnormal clones of myeloma cells in MM. 1q21 and IGH rearrangement are the most common chromosomal abnormality. The positive detection rate between SMM and MM by FISH is significant difference. And the FISH technology has important application value the clonal evolution of MM.

关 键 词：荧光原位杂交技术 多发性骨髓瘤 克隆演进 

分 类 号：R733.3[医药卫生—肿瘤]