多发性骨髓瘤细胞遗传学三种检测方法的比较  

The comparison of three cytogenetic methods for detecting multiple myeloma

作　　者：任娟[1] 杨林花[1] 李国霞[1] 樊建玲[2] 侯健[2] 

机构地区：[1]山西医科大学第二医院血液科,太原030001 [2]上海长征医院血液科

出　　处：《中华内科杂志》2009年第9期737-740,共4页Chinese Journal of Internal Medicine

摘　　要：目的探讨常规细胞遗传学方法、改良的细胞培养法（延长培养时间、增加秋水仙胺的终浓度）、荧光原位杂交（FISH）技术对多发性骨髓瘤（MM）染色体和基因组异常的检测价值。方法运用RHG显带技术对21例MM患者的骨髓标本进行核型分析，观察改良的细胞培养法对异常核型检出率的影响；应用探针1q21，13q14（RB1），14q32（IGHC／IGHV基因）进行FISH检测，提高MM的染色体和基因组异常检出率。结果MM患者21例的骨髓标本采用常规法检出4例异常（19．1％）；改良法检出6例异常（28．6％）。FISH检测18例MM患者检出12例异常（66．7％），其中1q21阳性4例（22．2％），RB1阳性5例（27．8％），IGH阳性8例（44．4％）。结论FISH技术能显著提高MM的染色体和基因组异常检出率。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 lq21, 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 lq21 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.

关 键 词：多发性骨髓瘤 原位杂交 荧光 染色体畸变 

分 类 号：R686[医药卫生—骨科学]