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[三种检测多发性骨髓瘤的细胞遗传学方法的比较]

[The comparison of three cytogenetic methods for detecting multiple myeloma].

作者信息

Ren Juan, Yang Lin-hua, Li Guo-xia, Fan Jian-ling, Hou Jian

机构信息

Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.

出版信息

Zhonghua Nei Ke Za Zhi. 2009 Sep;48(9):737-40.

PMID:20079209
Abstract

OBJECTIVE

To explore the value of conventional cytogenetic technique (CC), modified cell culture (long term culture and increasing the final concentration of colcemid) and fluorescence in situ hybridization (FISH) in detection of chromosomal and genomic aberrations of multiple myeloma(MM).

METHODS

RHG banding was used to evaluate the efficiency of modified culture method on abnormal karyotype detection in 21 MM patients. The probes 1q21, 13q14 (RB1), 14q32 (IGHC/IGHV gene) were used to perform FISH in the detection of chromosomal and genomic aberrations of MM.

RESULTS

Abnormal chromosomes were detected in 4 cases (19.1%) of the 21 MM patients with CC. After modified cell culture, abnormal karyotype was detected in 6 cases (28.6%). Abnormal chromosomes were detected in 12 of 18 cases (66.7%) using FISH. Panel FISH disclosed 1q21 amplification in 4 (22.2%), del(13q) abnormality in 5 (27.8%), 14q32 rearrangement in 8 (44.4%).

CONCLUSION

FISH can significantly improve the detection rate of chromosomal aberrations in MM.

摘要

目的

探讨常规细胞遗传学技术(CC)、改良细胞培养法(长期培养及增加秋水仙酰胺终浓度)和荧光原位杂交(FISH)在检测多发性骨髓瘤(MM)染色体及基因组畸变中的价值。

方法

采用RHG显带技术评估改良培养法对21例MM患者异常核型检测的效率。使用1q21、13q14(RB1)、14q32(IGHC/IGHV基因)探针进行FISH检测MM的染色体及基因组畸变。

结果

21例MM患者采用CC检测时,4例(19.1%)检测到异常染色体。改良细胞培养后,6例(28.6%)检测到异常核型。采用FISH检测的18例中有12例(66.7%)检测到异常染色体。组合FISH检测显示,1q21扩增4例(22.2%),del(13q)异常5例(27.8%),14q32重排8例(44.4%)。

结论

FISH可显著提高MM染色体畸变的检测率。

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