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53例多发性骨髓瘤患者的细胞遗传学研究

[Cytogenetic study on 53 patients with multiple myeloma].

作者信息

Jing Yuan, Fang Mei-Yun, Jiang Feng, Lin Shuang, Wang Fang-Ting

机构信息

Department of Hematology, Dalian Medical University, Dalian 116011, Liaoning Province, China.

出版信息

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2011 Feb;19(1):68-72.

PMID:21362224
Abstract

To explore the conventional cytogenetic (CC) characteristics and the partial molecular cytogenetic characteristics of multiple myeloma (MM), R banding technique was used for karyotype analysis in 53 cases of MM, and fluorescence in situ hybridization(FISH) technique was used for molecular cytogenetic analysis in 20 cases out of them. The results showed that the rate of chromosome abnormality was 32.1% in 53 cases. Among these abnormalities, 82.4% were involved in 3 or more than 3 chromosome aberrations, the mode of chromosome was from 44 to 90. The chromosome karyotype abnormality was involved in all of 24 chromosomes, and 70.6% chromosome aberrations involved at least one of 1q21 amplification, 13q14 deletion, 17p13 deletion and 14q32 translocation. Some uncommon structural aberrations were observed, such as t(11;16)(p11;p13) and some chromosome abnormalities were often revealed in acute or chronic leukemia. FISH detection showed that the results of 3 in 12 cases of MM with normal karyotype were positive; the results of 5 in 8 cases of MM with abnormal karyotype were positive. It is concluded that the abnormal chromosome karyotype was relatively complex in most cases of MM showing obvious heterogenicity. Detected rate of chromosome abnormalities in MM can be raised by FISH, though FISH technique has its limitations. If CC analysis and FISH technique are combined, it will be useful to raise the identification capability in detection of abnormal chromosomes in the cytogenetic study of MM.

摘要

为探讨多发性骨髓瘤(MM)的传统细胞遗传学(CC)特征及部分分子细胞遗传学特征,采用R显带技术对53例MM患者进行核型分析,其中20例采用荧光原位杂交(FISH)技术进行分子细胞遗传学分析。结果显示,53例患者中染色体异常率为32.1%。在这些异常中,82.4%涉及3条或3条以上染色体畸变,染色体数范围为44~90条。染色体核型异常涉及全部24条染色体,70.6%的染色体畸变涉及1q21扩增、13q14缺失、17p13缺失和14q32易位中的至少一种。还观察到一些罕见的结构畸变,如t(11;16)(p11;p13),以及一些在急性或慢性白血病中常见的染色体异常。FISH检测显示,12例核型正常的MM患者中有3例结果为阳性;8例核型异常的MM患者中有5例结果为阳性。结论是,大多数MM患者的染色体核型异常较为复杂,具有明显的异质性。虽然FISH技术有其局限性,但可提高MM染色体异常的检出率。若将CC分析与FISH技术相结合,将有助于提高MM细胞遗传学研究中异常染色体的检测识别能力。

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