摘要
目的 了解多发性骨髓瘤常见染色体异常情况,探讨其与临床分期及免疫学分型的关系。方法 对39例多发性骨髓瘤初诊患者进行1q21、RBl、D13S319、p53及IGH5种基因探针荧光原位杂交检测1q21扩增、13q14缺失、p53缺失以及IGH基因重排的发生率,统计分析染色体异常情况与临床分期及免疫学分型的关系。结果 1q21、RBl、D13S319、p53及IGH探针的阳性阈值分别为:7.2%、8.7%、7.9%、7.2%和9.8%。39例患者中,1q21扩增24例(61.5%);13q14缺失18例(46.2%),其中同时检出D13S319和RBl缺失15例;p53缺失8例(20.5%);IGH基因重排13例(33.3%)。除IGH重排与D-S分期之间(r=0.434,P=0.007)、p53缺失与IIS分期之间(r=-0.448,P=0.006)和D13S319缺失与免疫学分型之间(r=-0.335,P=0.040)呈显著相关性外,其余染色体异常与临床分期和免疫学分型均无相关性。结论 1q21扩增、13q14缺失、p53基因缺失及IGH重排是多发性骨髓瘤常见的核型异常,FISH检测技术有助于探索染色体异常与多发性骨髓瘤发展及预后的关系。
Objective To investigate the familiar genetic abnormality in MM patients and its relationship with clinical features and immunological types.Methods In 39 cases of MM,the incidence of lq21 amplification,13q14 deletion,p53 gene deletion and 14q32 rearrangement were detected with the five sequence-specific DNA probes（lq21,RBl,D13S319,p53 and IGH）by FISH,and the correlations between these chromosome abnormality to clinical states and immunological types were analyzed.Results The threshold value of lq21,RBl,D13S319,p53 and IGH were 7.2%,8.7%,7.9%,7.2% and 9.8% respectively.In 39 cases of MM,24 cases（61.5%）showed lq21 amplification;18 cases（46.2%）showed 13q14 deletion,while 15 cases were deletion of both RB1 and D13S319;8 cases（20.5%）showed p53 gene deletion;13 cases（33.3%）showed IGH gene rearrangement.There was no correlation except between the IGH rearrangement with D-S states（r=0.434,P=0.007）,or between the deletion of p53 with IIS states（r=-0.448,P=0.006）,or between the D13S319 deletion with immunological types（r=-0.335,P=0.040）.Conclusion The familiar genetic abnormality of MM include lq21 amplification,13q14 deletion,p53 gene deletion and IGH gene rearrangement,and FISH is a helpful technique to explore the relationship between chromosome aberrations with development and prognosis.
出处
《中国医药科学》
2012年第1期12-14,45,共4页
China Medicine And Pharmacy
基金
卫生部科研基金课题(WKJ2007-3-001)
关键词
多发性骨髓瘤
荧光原位杂交
染色体畸变
Multiple myeloma； Fluorescence in situ hybridization； Chromosome aberration；
