多重荧光原位杂交检测多发性骨髓瘤复杂核型异常  

Multiplex fluorescence in situ hybridization in detecting complex chromosomal aberrations of multiple myeloma

作　　者：李建勇[1] 肖冰[1] 潘金兰[2] 仇海荣[1] 钱思轩[1] 李丽[1] 吴亚芳[2] 陈丽娟[1] 薛永权[2] 

机构地区：[1]南京医科大学第一附属医院血液科,210029 [2]苏州大学附属第一医院,江苏省血液研究所

出　　处：《江苏医药》2006年第4期304-306,F0002,共4页Jiangsu Medical Journal

基　　金：江苏省"135"重点人才基金(RC2002044);江苏省"135"重点学科开放课题(135XY0201);卫生部科研课题(WKJ2005205);南京医科大学科研基金(NY0162)

摘　　要：目的探讨多重荧光原位杂交(MFISH)技术在多发性骨髓瘤(MM)复杂核型异常(CCAs)检测中的价值。方法对5例常规R显带具有CCAs的MM患者应用MFISH确定复杂染色体的重排及标记染色体的组成。结果明确了常规核型(CC)分析中的所有异常,共检出20种结构异常,其中缺失2种,易位18种,均为不平衡易位。最常累及的为14号染色体、1q的不平衡易位及6号染色体。结论对伴有CCAs的MM患者,MFISH技术可以明确CC分析中复杂染色体异常,并发现和纠正CC分析中漏检及误检的异常,为MM的染色体异常研究提供了一种理想的方法。Objective To evaluate the technique of multiplex fluorescence in situ hybridization （M-FISH） in the detection of the complex chromosomal aberrations （CCAs） in multiple myeloma （MM）. Methods M-FISH was used in five MM patients with CCAs detected by R-banding to refine complex chromosomal rearrangements arid the constitute of marker chromosomes. Results Twenty kinds of structural rearrangements were detected by M-FISH including 2 kinds of deletions, 18 kinds of translocations which were all imbalanced rearrangements. In addition, chromosomes 14, 6 and lq rearrangements were the most frequently involved aberrations. Conclusion M-FISH could refine CCAs of MM patients, find or correct the missed or misidentified abnormalities analysed by conventional cytogenetics. It provides an ideal method for the research of chromosomal aberrations in MM.

关 键 词：多发性骨髓瘤 多重荧光原位杂交 复杂染色体异常 

分 类 号：R733.7[医药卫生—肿瘤] R733.3[医药卫生—临床医学]