多发性骨髓瘤应用荧光原位杂交检测基因异常的价值  

The value of detection of multiple myeloma using fluorescence in situ hybridization gene abnormality

作　　者：李文兵[1] 李显东[1] 

机构地区：[1]湖北医药学院附属太和医院,湖北十堰442000

出　　处：《现代中西医结合杂志》2014年第15期1624-1626,共3页Modern Journal of Integrated Traditional Chinese and Western Medicine

摘　　要：目的探讨应用荧光原位杂交检测法检测多发性骨髓瘤基因异常的价值,进一步分析临床分期及免疫学分型特点。方法选择40例多发性骨髓瘤患者,对RB1、1q21、p53、D13S319以及IGH 5种基因行荧光原位杂交检测,分析p53缺失、RB1缺失、1q21扩增及IGH基因的重排发生情况,并统计处理基因异常与免疫学分型以及临床分期的关系。结果 RB1、1q21、p53、D13S319及IGH 5种基因的阳性阈值分别为8.6%,7.2%,7.2%,7.9%和9.7%,40例患者中1q21扩增23例(58%),同时检测出RB1缺失以及D13S319缺失14例(35%),p53缺失9例(22%),IGH基因重排15例(38%)。临床D-S分期与IGH重排有显著相关性(r=0.425,P=0.001),ISS分期与p53缺失有显著相关性(r=-0.449,P=0.005),免疫学分型与D13S319缺失有显著相关性(r=-0.341,P=0.040),其余几种基因异常均无显著相关性。结论多发性骨髓瘤较为常见的基因异常主要为p53缺失、RB1缺失、1q21扩增及IGH基因的重排,应用荧光原位杂交检测能够较好地分析基因异常与多发性骨髓瘤的关联性以及预后,值得临床予以广泛性推广应用。Objective It is to approach the value of detection by fluorescence in situ hybridization method for multiple my-eloma gene abnormality,and further analyzes the characteristics of clinical staging and immunological classification. Methods 40 patients with multiple myeloma were selected to test 5 genes including RB1,1q21,p53,D13S319 and IGH by fluorescence in situ hybridization,the information of p53 deletion,RB1deletion,amplification of 1q21 gene,and IGH rearrangement were analyzed,and the relationships of abnormal gene with immunological typing and clinical staging of contact were statistics. Re-sults Positive values of RB1,1q21,p53,D13S319 and IGH were 8. 6%,7. 2%,7. 2%,7. 9% and 9. 7%. Among 40 pa-tients,23 cases（58%）were amplified by 1q21,At the same time,detection showed that the deletions of RB1 and D13S319 in 14 cases（35%）,9 cases（22%）of p53 deletion,15 cases（38%）of IGH gene rearrangement. There were significant correlation between clinical D-S stage and IGH rearrangement（r=0. 425,P=0. 001）,ISS stage and p53 deletion（r= -0. 449, P=0. 005）,immunological classification and D13S319 deletion（r= -0. 341,P=0. 040）. Conclusion For multiple myelo-ma,the common genetic abnormalities are p53 deletion,RB1 deletion,1q21 amplification and IGH gene rearrangement. The application of fluorescence in situ hybridization can preferably analyze gene abnormalities and multiple myeloma associated and prognosis,and is worthy of wide popularization and application to clinical.

关 键 词：多发性骨髓瘤 荧光原位杂交 基因异常 检测率 

分 类 号：R733.3[医药卫生—肿瘤]