骨髓涂片胞质轻链免疫荧光结合FISH检测多发性骨髓瘤细胞遗传学异常  

Cytoplasmic light-chain immunofluorescence combined with FISH in bone marrow smears to detect cytogenetic abnormalities in multiple myeloma

作　　者：时雨 杨慧[1] 郭睿[1] 郭祯 李建勇[1] 吴雨洁[1] 仇海荣[1] Shi Yu;Yang Hui;Guo Rui;Guo Zhen;Li Jianyong;Wu Yujie;Qiu Hairong(Department of Hematology,Jiangsu Province Hospital,the First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京医科大学第一附属医院,江苏省人民医院血液科,南京210029

出　　处：《中华血液学杂志》2024年第6期566-570,共5页Chinese Journal of Hematology

基　　金：江苏省科教能力提升工程(ZDXK202209)。

摘　　要：目的:分析骨髓涂片胞质轻链免疫荧光结合FISH技术(New-FISH)检测多发性骨髓瘤(MM)细胞遗传学异常的敏感性。方法:纳入南京医科大学第一附属医院2022年4月至2023年10月收治的42例MM患者,采用组合探针1q21/1p32、p53、IgH、IgH/FGFR3[t(4;14)]、IgH/MAF[t(14;16)]对患者同时进行New-FISH和CD138磁珠分选结合FISH(MACS-FISH)或胞质轻链免疫荧光结合FISH(cIg-FISH)检测,分析其细胞遗传学检测结果。结果:23例MM患者中,cIg-FISH法、New-FISH法异常检出率分别为95.7%、100.0%(P>0.05)。cIg-FISH法、New-FISH法对1q21扩增、1p32缺失、p53缺失、IgH异常的检出率一致,分别为52.2%、8.7%、17.4%、65.2%。进一步对IgH异常的患者进行t(4;14)、t(14;16)检测,t(4;14)阳性率为26.7%,t(14;16)未检出,两种方法检测结果相同。19例MM患者中,MACS-FISH法、New-FISH法异常检出率分别为73.7%、63.2%(P>0.05)。MACS-FISH法对1q21扩增、1p32缺失、IgH异常的检出率略高于New-FISH法,但差异均无统计学意义(P值均>0.05)。结论:New-FISH法对于MM患者细胞遗传学异常检出率较高,与MACS-FISH、cIg-FISH一致性较好。Objective To analyze the sensitivity of cytoplasmic light-chain immunofluorescence with fluorescence in situ hybridization in bone marrow smears(new FISH)for detecting cytogenetic abnormalities in multiple myeloma(MM).Methods 42 MM patients admitted to the First Affiliated Hospital of Nanjing Medical University from April 2022 to October 2023 were enrolled.The patients with MM were detected by new FISH and CD138 immunomagnetic bead sorting technology combined with FISH(MACS-FISH)or cytoplasmic immunoglobulin FISH(cIg-FISH)to analyze cytogenetic detection results using combination probes which included 1q21/1p32,p53,IgH,IgH/FGFR3[t(4;14)],and IgH/MAF[(t 14;16)].Results In 23 patients with MM,the abnormality detection rates of cIg-FISH and new FISH were 95.7%and 100.0%,respectively(P>0.05).The detection rates of 1q21+,1p32-,p53 deletion,and IgH abnormalities by cIg-FISH and new FISH were consistent,which were 52.2%,8.7%,17.4%,and 65.2%,respectively.The results of the two methods further performed with t(4;14)and t(14;16)in patients with IgH abnormalities were identical.The positive rate of t(4;14)was 26.7%,whereas t(14;16)was not detected.In 19 patients with MM,the abnormality detection rates of MACS-FISH and new FISH were 73.7%and 63.2%,respectively(P>0.05).The positivity rate of 1q21+,1p32-and IgH abnormalities detected by MACS-FISH were slightly higher than those detected by new FISH;however,the differences were not statistically significant(all P values>0.05).Conclusion The new FISH method has a higher detection rate of cytogenetic abnormalities in patients with MM and has good consistency with MACS-FISH and cIg-FISH.

关 键 词：多发性骨髓瘤 细胞遗传学 原位杂交 荧光 

分 类 号：R733.3[医药卫生—肿瘤]