Li Qing-Zhao, Tan Kui, Liu Yu-Xia, Huang Huang, Zhang Yu, Chen Hai-Mei, Chen Zhen-Zhen, Zhu Zhan-Wang, Yang Bi-Hui, Hu Guo-Yu
Department of Hematology, Zhuzhou Central Hospital, Zhuzhou 412007, Hunan Province, China.
Department of Hematology, Zhuzhou Central Hospital, Zhuzhou 412007, Hunan Province, China. E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2022 Oct;30(5):1496-1500. doi: 10.19746/j.cnki.issn.1009-2137.2022.05.029.
To compare the effects of direct fluorescence in situ hybridization (D-FISH) detection without sorting and CD138 immunomagnetic bead sorting technology combined with FISH (MACS-FISH) on cytogenetic analysis of patients with multiple myeloma (MM).
FISH test results of 229 patients with initial MM were retrospectively analyzed. The patients were divided into two groups, 140 patients were tested with D-FISH and 89 patients with MACS-FISH. The combination probe was designed as P53, D13S319, RB1, 1q21, and IgH. Cytogenetic detection results were compared between the two groups.
The total detection rate of cytogenetic abnormalities in D-FISH group was 52.9%, and that in MACS-FISH group was 79.8%. There was a significant difference in the cytogenetic abnormality rate between the two groups (P=0.020). The abnormal genes with the highest detection rate in the two groups were 1q21 and IgH, respectively, while the lowest was P53. There was no significant difference in the percentage of P53 positive cells (positive rate) between the two groups, while D13S319, RB1, 1q21, and IgH showed significant difference in positive cell rate (P=0.0002, P<0.0001, P=0.0033, P=0.0032). There was no significant correlation between the proportion of plasma cells (PC) detected by bone marrow morphology and cytogenetic abnormality rate in the D-FISH group, while there was a correlation between the proportion of PC detected by flow cytometry and cytogenetic abnormality rate (r=0.364). The PC proportion detected by bone marrow morphology and flow cytometry in the MACS-FISH group had no correlation with the cytogenetic abnormality rate and positive cell rate of the 5 genes mentioned above. Additionally, the PC proportion detected by bone marrow morphology and flow cytometry showed significant difference (P<0.0001).
CD138 immunomagnetic bead sorting combined with FISH technology can significantly improve the abnormality detection rate of MM cytogenetics.
比较直接荧光原位杂交（D-FISH）非分选检测与CD138免疫磁珠分选技术联合荧光原位杂交（MACS-FISH）对多发性骨髓瘤（MM）患者细胞遗传学分析的效果。
回顾性分析229例初诊MM患者的FISH检测结果。将患者分为两组，140例患者采用D-FISH检测，89例患者采用MACS-FISH检测。组合探针设计为P53、D13S319、RB1、1q21和IgH。比较两组的细胞遗传学检测结果。
D-FISH组细胞遗传学异常的总检出率为52.9%，MACS-FISH组为79.8%。两组细胞遗传学异常率有显著差异（P = 0.020）。两组中检出率最高的异常基因分别为1q21和IgH，最低的为P53。两组间P53阳性细胞百分比（阳性率）无显著差异，而D13S319、RB1、1q21和IgH在阳性细胞率上有显著差异（P = 0.0002，P < 0.0001，P = 0.0033，P = 0.0032）。D-FISH组骨髓形态学检测的浆细胞（PC）比例与细胞遗传学异常率无显著相关性，而流式细胞术检测的PC比例与细胞遗传学异常率有相关性（r = 0.364）。MACS-FISH组骨髓形态学和流式细胞术检测的PC比例与上述5个基因的细胞遗传学异常率及阳性细胞率均无相关性。此外，骨髓形态学和流式细胞术检测的PC比例有显著差异（P < 0.0001）。
CD138免疫磁珠分选联合FISH技术可显著提高MM细胞遗传学异常检出率。
