LSI-RB1和LSI-D13S319荧光探针联合检测分析112例多发性骨髓瘤患者染色体13q14缺失  

Cytogenetic Abnormality of Chromosome 13q14 in 112 Patients with Multiple Myeloma Detected by Using LSI-RB1 and LSI-D13S319 Probes

作　　者：李菲[1] 胡林萍[1] 安刚[1] 徐燕[1] 王燕婴 邢立杰[1] 易树华[1] 谢振卿 邱录贵[1] 

机构地区：[1]中国医学科学院北京协和医学院血液学研究所血液病医院,天津300020

出　　处：《中国实验血液学杂志》2012年第4期917-921,共5页Journal of Experimental Hematology

基　　金：卫生部(部属)医院临床学科重点项目(编号2010-2012);天津市科技支撑计划(编号09ZCGYSF01000)

摘　　要：染色体13q14缺失是多发性骨髓瘤(MM)常见的遗传学异常,也是荧光原位杂交(FISH)检测的常规指标。目前针对该片段缺失的商品化序列特异性DNA探针有LSI-RB1(针对13q14.1-14.2区域)、LSI-D13S319(针对13q14.3区域)和LSI-D13S25(针对13q14.3区域)3种。本研究联合应用LSI-RB1、LSI-D13S319探针和间期FISH方法同时检测112例MM患者对应区域的缺失,比较MM患者上述区域缺失率和缺失细胞比例是否存在差异,总结我国MM患者13q14缺失片段大小的特点,以更好地指导临床检测和治疗。结果表明:①LSI-RB1和LSI-D13S319两种探针对MM患者13q14缺失的检出率均为47.3%,检出相符率为100%;如果将缺失的阈值提高至20%,则13q14缺失检出率分别为46.4%和47.3%,检出相符率为98%;②RB-1缺失组缺失细胞比例中位数为72.5%(18%-98%),D13S319缺失组缺失细胞比例中位数为76.5%(22%-98.5%),2种探针检测得出的13q14缺失细胞比例无统计学差异(P=0.38);如果分别将缺失细胞比例≥65%和≥85%定为高比例缺失,比较两种探针对高比例缺失患者的检出率,结果 RB1组有36例(67.9%)和14例(26.4%)为高比例缺失,D13S319组有35例(66%)和19例(35.8%)为高比例缺失,统计学分析显示两种探针对高比例缺失患者的检出率也无显著差异(P分别为0.188和0.439);③53例13q14缺失MM患者均为杂合型缺失,且同时具有上述两个区域缺失,即均为较大片段缺失。结论:本研究中112例MM患者13q14.1-14.2和13q14.3区域缺失、缺失细胞比例和高比例缺失检出率无明显差异,不能根据检测上述两个位点将MM患者划分为不同亚型,在检测13q14缺失时,仅需选择LSI-RB1和LSI-D13S319中1种探针即可。53例13q14缺失MM患者均同时存在13q14.1-14.2和13q14.3两个区域的缺失,提示较大片段缺失是MM患者13q缺失的重要特点之一。Chromosome 13q14 deletion is one of the most common cytogenetic abnormalities in multiple myeloma （MM）. LSI（locus-specific identification）-RB1 （13q14.1 -14.2 region）and LSI-D13S319（ 13q14.3 region） probes are usually used to detect 13q14 deletion. The aims of this study was to compare the incidence of chromosome 13q14.1 - 14.2 and 13q14. 3 deletion and to detect 13q14 deletion size and number of involved cells in MM patients. The chromosome 13q14 region was detected by fluorescence in situ hybridization using probes LSI-RB1 and LSI-D13S319 in plasma cells of 112 MM patients. The results showed that 47.3% （53 out of 112） MM patients had both LSI-RB1 and LSI-D13S319 13q14 deletion （cut-off value： 7% ）, and the deletion rates detected by probes LSI-RB1 and LSI-D13S319 were accordant. The positive rates of 13q14 deletion were 46.4% and 47.3% respectively when the cut-off level was increased to 20%, and the corresponding rate was 98%. MM patients carrying 13q14 deletion showed 18% -98% （median value： 72.5% ） and 22% -98.5% （ median value： 76.5% ） of deleted nuclei involving the RB1 and the D13S319 locus （P =0.38）. There were 67.9% （36 out of 53）and 66% （35 out of 53） cases carrying 〉65% of 13q14.1 -14.2 and 13q14.3 deleted nuclei as high proportion deletion patients, respectively （P = 0.188 ）. The positive rate of the high proportion deletion patients had still no difference between LSI-RBI and LSI-D13S319 groups when the cut-off value was defined as 85% （P = 0. 439 ）. In conclusion, in this cohort of 112 MM patients, there was no significant difference between the LSI-RBland LSI-D13S319 probes to detect 13q14 deletion. Both LSI-RB1 and LSI-D13S319 probes can be selected to detect 13q14 deletion in MM patients. All the 53 MM patients with 13q14 deletion had deletions of 13q14.1 - 14.2 and 13q14.3 regions, which is a large deletion as one of the important characters in MM patients with 13q14 deletion.

关 键 词：多发性骨髓瘤 荧光原位杂交 LSI—RB1探针 LSI—D13S319探针 13Q14缺失 

分 类 号：R733.3[医药卫生—肿瘤] R466[医药卫生—临床医学]