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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 a common genetic abnormality in multiple myeloma (MM) and is also a routine indicator of fluorescence in situ hybridization (FISH). LSI-RB1 (for the 13q14.1-14.2 region), LSI-D13S319 (for the 13q14.3 region), and LSI-D13S25 (for the 13q14.3 region) 3 currently lacking the fragment-specific commercial DNA probes Species. This study combined LSI-RB1, LSI-D13S319 probe and interphase FISH method simultaneously detect the corresponding deletion of 112 cases of MM patients, comparing MM patients with the above-mentioned regional deletion and deletion of the proportion of cells there is a difference, summed up the MM patients with 13q14 deletion Fragment size characteristics to better guide clinical testing and treatment. The results showed that: ①LSI-RB1 and LSI-D13S319 two probes for MM patients with 13q14 deletion were detected in 47.3%, the detection rate was 100%; if the deletion threshold increased to 20%, 13q14 deletion (46.4% and 47.3% respectively), and the coincidence rate was 98%. ②The median of missing cells in the RB-1 deletion group was 72.5% (18% -98%), and the median of missing cells in the D13S319 deletion group was 76.5% (22% -98.5%). There was no significant difference in the proportion of 13q14-deficient cells detected by the two probes (P = 0.38). If the percentage of missing cells was ≥65% and ≥85% . The detection rates of the two probes in patients with high proportion of deletion were compared. Results In the RB1 group, there were 36 cases (67.9%) and 14 cases (26.4%) with high proportion of deletion, 35 cases (66%) and 19 cases (P <0.188 and 0.439 respectively); ③53 cases of 13q14-deficient MM patients were all heterozygous Missing, and at the same time has the above two regions are missing, that is, a larger fragment is missing. Conclusion: In this study, 112 cases of MM patients with 13q14.1-14.2 and 13q14.3 region missing, the proportion of missing cells and a high percentage of missing detection rate was no significant difference can not be detected based on the above two sites of MM patients were divided into different sub For detection of 13q14 deletion, only one type of probe selected from LSI-RB1 and LSI-D13S319 can be selected. 53 cases of 13q14 deletion MM patients both exist 13q14.1-14.2 and 13q14.3 two regions of the deletion, suggesting that large fragment deletion is one of the important features of 13q deletion in MM patients.