摘要
目的:为探讨间期荧光原位杂交(FISH)在检测多发性骨髓瘤(MM)间期细胞13q14缺失、1q21、p53缺失以及免疫球蛋白重链(IgH)基因重排中的意义。方法:采用组合探针(1q21/RB1、D13S319/p53、IgH)对21例MM患者骨髓进行FISH检测,分析其分子遗传学异常,比较其与常规染色体检查及临床指标的相关性。结果:21例MM患者中,19例(90.48%)检测出1种或1种以上的细胞遗传学异常,15例(71.43%)同时检测出2种及以上的异常。其异常比例从高到低分别为:+1异常(66.67%),IgH基因重排(57.14%),13号染色体缺失(47.62%)和p53基因丢失(23.81%)。3例(14.29%)通过G-显带常规染色体检查发现异常,与FISH比较两者差异有统计学意义(P<0.01)。结论:+1、IgH基因重排及13q14缺失在MM中的发生率较高。FISH技术能提高MM分子遗传学异常的敏感性。
Objective：To investigate the molecular cytogenetic abnormalities in multiple myeloma（MM） by fluorescence in situ hybridization（FISH）.Method：Twenty-one patients of MM were enrolled in this study.Panel probes of 1q21/RB1、D13S319/p53 and IgH were used to detect the 13q14 deletion,trisomy 1,p53 deletion and IgH gene rearrangements in these patients as well as conventional chromosome karyotype.Result：19 of 21 patients（90.48%） were detected to have at least one kind of molecular cytogenetic abnormalities by FISH.15 patients（71.43%） were detected to have at least more than two kinds of molecular cytogenetic abnormalities.The incidence of molecular cytogenetic abnormalities from high to low was as followed：trisomy 1（66.67%）,IgH gene rearrangements（57.14%）,13q14 deletion（47.62%） and p53 deletion（23.81%）.3 patients（14.29%） were detected to have conventional chromosome abnormalities.The incidence of conventional chromosome abnormalities was significantly lower than that in FISH（P0.01）.Conclusion：The incidence of trisomy 1,IgH gene rearrangements and 13q14 deletion was higher in MM.FISH can increase the detection sensitivity of molecular cytogenetic abnormalities in MM.
出处
《临床血液学杂志（输血与检验）》
CAS
2011年第2期193-195,共3页
Journal of Clinical Hematology(Blood Transfusion & Laboratory Medicine)
