荧光原位杂交技术检测多发性骨髓瘤复杂核型异常  

Fluorescence in situ hybridization identifies complex chromosomal aberrations in multiple myeloma

作　　者：刘淑艳[1] 黄金文[1] 张瑾[1] 杜华平[1] 姜浩[1] 李建勇[2] 薛永权[3] 

机构地区：[1]浙江大学医学院附属邵逸夫医院血液内科,杭州310016 [2]南京医科大学第一附属医院血液内科 [3]苏州大学附属第一医院、江苏省血液研究所

出　　处：《中华医学遗传学杂志》2007年第6期685-688,共4页Chinese Journal of Medical Genetics

摘　　要：目的探讨多重荧光原位杂交（multiplex fluorescence in situ hybridization,M-FISH）技术联合荧光原位杂交（fluorescence in situ hybridization,FISH）技术在检测多发性骨髓瘤（multiplemyeloma,MM）染色体异常中的应用价值及13q14缺失、IgH相关易位和17p13缺失的发生率。方法联合应用常规细胞遗传学（conventional cytogenetics,CC）方法及M-FISH和一组包括13q14（D13S319）,14q32（IgH基因）和17p13（p53基因）探针的FISH技术分析了7例伴有复杂染色体异常的MM患者骨髓标本。结果M-FISH明确了CC分析中没有明确的异常,共检出12种染色体数目异常和29种结构异常,其中,1号染色体异常、13号染色体缺失和与14q32相关的易位最为多见。FISH检出6例伴有13q14缺失;4例伴有17p13缺失;5例伴有一个14q32相关易位,两例还伴有涉及两个14q32的易位。结论M-FISH联合FISH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。Objective To explore the value of the technique of multiplex fluorescence in situ hybridization（ MFISH） combined with interphase fluorescence in situ hybridization （FISH） in the identification of the chromosomal aberrations in multiple myeloma （MM） and to investigate the frequency of 13q14 deletion, IgH translocations and 17p13 deletion. Methods Seven MM patients with complex chromosomal abnormalities （CCAs） were analyzed by combining the technique of conventional cytngenetics （CC） with M-FISH and FISH. Results M-FISH identified the aberrations which were undetected by CC, including twelve kinds of numeral aberrations and twenty-nine kinds of structural aberrations, In addition, abnormalities of chromosome 1, chromosomes 13 deletion and IgH translocations were the most frequent aberrations. Using the LSI D13S319 probe specific for 13q14, we observed a deletion of 13q14 in 6 MM patients; using the LSI p53 probe specific for 17p13, we observed p53 deletion in 4 MM patients; using the LSI IGHC/IGHV probe specific for 14q32, we observed a translocation involving 14q32 in 5 MM patients （43.5%）, two translocations in two cases （case 6 and 7）. Conclusion M-FISH combined with FISH could refine the cytogenetics of MM patients and detect the missed abnormalities or correct the misidentified abnormalities analyzed by CC. It provides an ideal method for the research of chromosomal aberrations in MM.

关 键 词：荧光原位杂交 多发性骨髓瘤 核型分析 

分 类 号：R686[医药卫生—骨科学]