应用CD138免疫磁珠分选结合荧光原位杂交技术检测多发性骨髓瘤细胞遗传学异常  

Application of CD138 Immunomagnetic Sorting Myeloma Cells Combined with Fluorescence in Situ Hybridization for Detecting Cytogenetic Abnormalities of Multiple Myeloma

作　　者：高露[1] 刘清[1] 师岩[1] 党辉[1] 何琦[1] 王峥[1] 冯麟[1] 李叶[1] 王晓燕[1] 李娜[1] 宋文杰[1] 王燕琳[1] 孔舒[1] 路瑾[1] 黄晓军[1] 赖悦云[1] 

机构地区：[1]北京大学人民医院,北京大学血液病研究所,造血干细胞移植治疗血液病北京市重点实验室,北京100044

出　　处：《中国实验血液学杂志》2017年第3期807-812,共6页Journal of Experimental Hematology

摘　　要：目的:比较直接荧光原位杂交技术(D-FISH)和CD-138磁珠分选结合FISH(MACS-FISH)的方法检测多发性骨髓瘤(MM)的细胞遗传学异常。方法:对31例MM患者进行了传统G显带核型分析,并采用探针组合(1q21,D13S319,RB1,IgH,P53)同时进行D-FISH法和MACS-FISH法的检测。对17例IgH重组异常的患者,进一步利用IgH/FGFR3,IgH/MAF,IgH/CCND1 3种探针进行FISH检测。结果:31例患者中5例(16.1%)核型分析具有异常克隆。采用直接FISH法有13例(41.9%)检出异常,而采用CD138磁珠分选浆细胞后有25例(80.6%)检出异常。二者异常检出率有显著差异(P=0.042)。采用D-FISH法,1q21,D13S319,RB1,IgH,P53 5种探针的异常检出率分别为22.6%,25.8%,29%,38.7%和9.7%;而采用MACS-FISH法上述5种探针异常检出率分别为48.4%,45.2%,48.4%,67.7%和16.1%。骨髓浆细胞比例≥20%时,D-FISH与MACS-FISH异常检出率一致;骨髓浆细胞比例<20%,MACS-FISH异常检出率明显高于D-FISH法,二者有统计学差异(P=0.00)。结论:利用CD-138磁珠分选后进行FISH检测能显著提高MM细胞遗传学异常的检出率。常规核型分析结合MACS-FISH是MM细胞遗传学异常克隆检测的理想方法,尤其适用于骨髓浆细胞比例小于20%的患者。Objective： To investigate the efficiency of direct fluorescence in situ hybridization （D-FISH） versus FISH on CD138 immunomagnetic sorting myeloma cells （MACS-FISH） to detect the cytogenetic abnormalities of multi- ple myeloma. Methods： Thirty-one patients with multiple myeloma （MM） were detected by D-FISH and MACS-FISH, using 5 probes, including lq21, D13S319, RB1, IgH, P53. The IgH rearrangement positive patients were further exam- ined by 3 IgH rearrangement subtype FISH probes including IgH/FGFR3, IgH/MAF and IgH/CCND1. Results： Meta- phase karyotyping revealed cytogenetic abnormalities in 5 cases （16.1% ）, clonal aberrations were detected in 13 cases （41.9%） by D-FISH, while 25 case（80.6% ） with clonal aberrations by MACS-FISH. The results between these 2 FISH methods were significantly different （ P = 0.042）. The detection frequency of clonal aberration by each probes of D-FISH was 22.6% ,25.8% ,29% ,38.7% and 9.7% respectively for lq21 amplification, D13S319 deletion,RBl dele- tion, IgH rearrangement and P53 deletion, compared with 48.4 % ,45.2 % ,48.4%, 67.7 % and 16.1% respectively by MACS-FISH. The 2 FISH methods were well consistent when the percentage of plasma cells was t〉20% in bone mar- row smears. When the percentage of plasma cells was 〈 20% in bone marrow smears, the difference between these 2 methods was very statistically significant （P = O. O0 ）. Conclusion, MACS-FISH can obviouslv imnrove the detection el-ficiency of cytogenetic abnormalities in patients with MM. Conventional cytogenetics combined with MACS-FISH is an ideal efficient method to detect the cytogenetic abnormalities in MM patients, and should be applied widely, especially for those patients with the plasma cells 〈 20% in bone marrow smears.

关 键 词：多发性骨髓瘤 荧光原位杂交 免疫磁珠分选 

分 类 号：R733.3[医药卫生—肿瘤]