CD138磁珠分选结合间期荧光原位杂交在浆细胞病遗传学诊断中的应用价值

发布时间：2018-07-05 16:15

本文选题：浆细胞病 + 多发性骨髓瘤　；参考：《中国实验血液学杂志》2016年05期

【摘要】：目的:通过CD138磁珠分选(MACS)结合间期荧光原位杂交(I-FISH)技术研究浆细胞病的细胞遗传学特征,阐明MACS-FISH在浆细胞病遗传学诊断中的应用价值,以及探讨我国浆细胞病FISH检测标准化的问题。方法:收集初诊浆细胞病患者232例,其中MM 203例,AL淀粉样变性24例,意义未明单克隆免疫球蛋白血症(MGUS)5例。应用MACS-FISH检测浆细胞病的细胞遗传学异常。比较染色体核型分析、常规间期FISH(C-FISH)与MACS-FISH细胞遗传学异常检出率的差异。按骨髓浆细胞比例分组,比较C-FISH与MACS-FISH的检测敏感性。分析C-FISH、MACS-FISH异常阳性细胞率与浆细胞比例的相关性,以及比较C-FISH和MACS-FISH克隆大小的检出差异。结果:MACS-FISH检出MM、AL淀粉样变性、MGUS的细胞遗传学异常的发生率为分别为85.9%、62.5%和60%。应用染色体核型分析和C-FISH检出MM细胞遗传学异常的发生率分别为20.0%和64.7%,均显著低于MACS-FISH(P0.001)。MACS-FISH检出14q32异位、del(14q32)、t(11;14)、+17p13和并存2种及"g3种细胞遗传学异常的阳性率均显著高于C-FISH检测结果(P0.05)。当骨髓浆细胞比例"f5%时,MACS-FISH的阳性检出率显著高于C-FISH(P=0.001),且MACS-FISH在不同浆细胞比例分组的阳性检出率均无统计学差异;而C-FISH在浆细胞比例"f5%时的阳性检出率显著低于其余3组(P=0.013,P=0.001,P0.001)。C-FISH组各遗传学异常和MACS-FISH组中+1q21、14q32异位的阳性细胞率与浆细胞比例呈显著正相关(P0.05)。MACSFISH组各种细胞遗传学异常的克隆大小显著大于C-FISH组(P0.001)。结论:MACS-FISH可以显著提高浆细胞病细胞遗传学异常的检出率,能更好的反映浆细胞病的细胞遗传学异常发生情况及其克隆大小。MACS-FISH可推荐作为国内浆细胞病遗传学诊断的标准方法,用于MM和SMM的危险分层,以及MGUS、AL淀粉样变性的遗传学诊断和研究。
[Abstract]:Objective: to study the cytogenetic characteristics of plasma cell disease by CD138 magnetic beads sorting (Macs) and interphase fluorescence in situ hybridization (I-FISH), and to elucidate the value of MACS-FISH in the genetic diagnosis of plasma cell disease. And to discuss the standardization of fish detection in plasma cell disease in China. Methods: 232 patients with newly diagnosed plasmacytic disease were collected, including 24 cases of MM 203 cases with AL amyloidosis and 5 cases of unknown monoclonal immunoglobulinemia (MGUS). Cytogenetic abnormalities of plasma cell disease were detected by MACS-FISH. Compared with chromosome karyotype analysis, the difference of detection rate of cytogenetic abnormality between conventional interval fish (C-FISH) and MACS-FISH was found. The sensitivity of C-FISH and MACS-FISH was compared according to the proportion of bone marrow plasma cells. To analyze the correlation between the abnormal positive rate of MACS-FISH and the proportion of plasma cells, and to compare the difference of clone size between C-FISH and MACS-FISH. Results the incidence of cytogenetic abnormality of MGUS in MGUS detected by MMC S-FISH was 85.9% and 60%, respectively. The incidence of MM cytogenetic abnormalities detected by chromosome karyotype analysis and C-FISH was 20.0% and 64.7%, respectively, which was significantly lower than that of MACS-FISH (P0.001). MACS-FISH detected 14q32 ectopic (14q32) t (1114). The positive rates of 17p13, coexisting two and "g3 kinds of cytogenetic abnormalities were significantly higher than those of C-FISH (P0.05). The positive rate of MACS-FISH was significantly higher than that of C-FISH (P0. 001) when the ratio of bone marrow plasmacytes was 5%, and there was no significant difference in the positive rate of MACS-FISH in different proportion of plasma cells. The positive rate of C-FISH in plasma cell ratio "f5%" was significantly lower than that in the other three groups (P0.013, P0.001, P0.001). C-FISH group and MACS-FISH group, the positive rate of 1q2114q32 heterotopic cells was significantly positively correlated with the percentage of plasma cells (P0.05) .MACSFISH group had various cytogenetic abnormalities (P0.05). The clone size was significantly larger than that in C-FISH group (P0.001). Conclusion% MACS-FISH can significantly improve the detection rate of cytogenetic abnormalities of plasma cytopathic diseases, and can better reflect the occurrence of cytogenetic abnormalities and clone size. MACS-FISH can be recommended as a standard method for the genetic diagnosis of plasmacytic diseases in China. It is used for the genetic diagnosis and research of MM and SMM risk stratification and MGUSUS AL amyloidosis.
【作者单位】：南京军区南京总医院血液科;
【基金】：南京军区南京总医院科研基金(2016024)
【分类号】：R733.3;R597

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