多发性骨髓瘤细胞遗传学研究

A cytogenetic study on multiple myeloma

目的探讨传统的细胞遗传学检测方法与荧光原位杂交(FISH)技术在多发性骨髓瘤(MM)染色体异常检测中的应用价值。方法应用RHG显带技术对MM患者的骨髓标本进行染色体核型分析,观察MM患者细胞遗传学异常的检测率;应用一组探针(P53、RB1、D13S319、IGH、1q21)和FISH技术检测MM患者的染色体异常,观察异常检出率。结果对108例患者采用常规法检出20例染色体异常(18.5%),应用FISH技术检测出51例异常(47.2%),其中P53阳性6例(5.6%),RB1阳性的34例(31.5%),D13S319阳性的32例(29.6%),IGH阳性的22例(20.4%),1q21阳性的36例(33.3%),复杂核型的35例(32.4%)。结论FISH在分析MM染色体异常方面是一种较为快速、准确和敏感的方法。

Objective To investigate the value of conventional cytogenetic technique vs fluorescence in situ hybridization(FISH)in detecting chromosomal abnormalities in multiple myeloma(MM).Methods RHG banding technique was used to karyotype the bone marrow specimens from MM patients,so that the detection rate of cytogenetic abnormalities was recorded.Then,FISH technique with a set of probes(P53,RB1,D13 S319,IGH,and 1 q21)was used to detect abnormal chromosomes in the MM patients,so that the detectionrate of abnormality was also recorded.Results A total of 108 patients were examined via conventional assay and FISH.Chromosome abnormalities(18.5%)were identified in 20 cases by conventional method,and in 51(47.2%)by FISH.FISH noted 6 cases(5.6%)positive for P53,34(31.5%)positive for RB1,32(29.6%)positive for D13 S319,22(20.4%)positive for IGH,36(33.3%)positive for 1 q21,and 35(32.4%)with complex karyotypes.Conclusion FISH is a relatively fast,accurate and sensitive method for identifying chromosome abnormalities in MM patients.