FISH检测多发性骨髓瘤分子遗传学异常及分辨IGH重排亚型的意义  

Detection of molecular cytogenetic abnormalities of multiple myeloma by FISH and the significance of IGH rearrangement subtypes discrimination

作　　者：李力[1] 邝丽萍[1] 庞妍[1] 伍九龙[1] 肖芷芳[1] 

机构地区：[1]广州军区广州总医院血液科,510010

出　　处：《实用医学杂志》2012年第5期822-824,共3页The Journal of Practical Medicine

基　　金：广东省科技计划项目(编号:2010B031900037)

摘　　要：目的:探讨荧光原位杂交(FISH)在检测多发性骨髓瘤(MM)细胞1q21扩增、13q14缺失、p53缺失、IGH重排等位点异常及分辨IGH重排亚型中的意义。方法:收集29例初诊MM患者及10例其他疾病伴幼稚浆细胞增生患者骨髓细胞,用核型分析和荧光原位杂交(FISH)技术进行检测,分析其细胞遗传学异常,并对IGH重排阳性患者进行三种IGH重排亚型检测。结果:29例初诊MM患者中,17例通过FISH检出1种及以上分子细胞遗传学异常(58.6%),核型分析只检出3例异常(10.3%)。11例IGH重排阳性患者中有3例IGH/FGFR3阳性,5例IGH/CCND1阳性,无IGH/MAF阳性。结论:FISH技术在MM遗传学检测方面优于核型分析技术,IGH重排阳性患者有必要进行IGH重排亚型检测。Objective To investigate the molecular cytogenetic abnormalties including 1q21 amplification, 13q14 deletion, p53 deletion, IGH rearrangement in multiple myeloma （MM） patients and discriminate the IGH reaarangement subtypes. Methods Twenty-nine samples of MM patients and ten samples of non-MM patients were collected, karyotype and FISH were used to detect the cytogenetic abnormalties, IGH rearrangement positive patients were further checked by three IGH rearrangement subtype FISH probes. Results Seventeen of twenty-nine MM patients （58.6%） were detected to have at least one molecular cytogenetic abnormalities by FISH, but three of twenty-nine molecular cytogenetic abnormalities in MM patients （10.3%） were detected by karyotype analysis. Among the eleven IGH rearrangment positive patients, three were detected to have IGH/FGFR3 translocation, 5 were detected to have IGH/CCND1 translocation, none IGH/MAF translocation were observed. Conclusion FISH is superior than karotype in MM cytogenetic detection, IGH rearranment subtype discrimination is essential for IGH rearrangement positive patients.

关 键 词：多发性骨髓瘤 间期荧光原位杂交 分子遗传学 

分 类 号：R733.3[医药卫生—肿瘤]