100例多发性骨髓瘤患者荧光原位杂交结果汇总分析  

A general analysis on the result of 100 patients with multiple myeloma by fluorescence in situ hybridization

作　　者：胡斌[1] 刘林湘[1] 陈丹丹[1] 

机构地区：[1]郑州大学第一附属医院血液科,河南郑州450000

出　　处：《河南医学研究》2017年第17期3075-3077,共3页Henan Medical Research

摘　　要：目的探讨荧光原位杂交(FISH)技术检测在多发性骨髓(MM)诊断和治疗中的作用及临床意义。方法应用FISH技术,采用特异性探针(RB1、P53、D13S319、IGH及Iq21),对100例初诊MM患者进行检测,分析其染色体异常情况,与患者的临床指标进行相关性分析。结果 FISH技术检测100例初诊MM患者中60例(60%)基因异常,其中IGH重排42例(42%),Iq21扩增32例(32%),RB1缺失23例(23%),D13S319缺失21例(21%),P53缺失5例(5%)。各基因异常结果与临床指标相关性分析如下:IGH基因重排与骨髓内浆细胞水平(>30%)、ISS分期存在相关性;del(13q)与ISS分期、骨髓浆细胞水平(>30%)及β2-微球蛋白水平(β2-MG)水平存在相关性;Iq21扩增与β2-MG、ISS分期存在相关性;P53缺失检出率最低,预后可能较差。MM患者存在染色体异常的主要以Ig G型和Ⅲ期为主。结论 MM最常见的基因异常是IGH基因重排以及Iq21扩增,其次是RB1和D13S319缺失,P53缺失最少。Ⅲ期和Ig G型患者出现染色体异常的可能性更高。FISH的检出率要优于染色体常规核型分析(CC)技术,FISH联合CC可作为MM患者的常规检查,指导临床治疗。Objective To investigate the effects and clinical meaning of fluorescence in situ hybridization （FISH） in the di- agnosis and treatment of multiple myeloma （ MM ） patients. Methods By FISH, five specific probes including RB1, P53, D13S319, IGH and Iq21 were used to study the chromosomal abnormalities of 100 newly diagnosed patients with MM in the First Affiliated Hospital of Zhengzhou University, the correlation between the results and the patients＇ clinical indicators was analyzed. Results Among the 100 cases of newly diagnosed patients with MM, there were 60 cases of chromosomal abnormalities emerged （60/100）. The frequencies of abnormalities in IGtt rearrangement, Iq21 amplification, the deletion of RBI, the deletion of D13S319 and that of P53 were 42% （42/100）, 32% （32/100）, 23% （23/100）, 21% （21/100） and 5% （5/100） respectively. Analysis showed that there was a correlation between IGH gene rearrangement and the percentage of plasma cell （ 〉 30% ） as well as ISS periodization; one between del（13q） and ISS periodization, the percentage of plasma cell （ 〉 30% ） and that of 132 microglobulin （ β2 - MG） ; another between Iq21 amplification and β2 - MG as well as ISS periodization. In addition, the de- tectable rate of the deletion of P53 was the lowest and the relevant prognosis may be worse. In a word, the chromosomal abnor- malities in patients with MM mainly lie in IGH and stage Ⅲ. Conclusion The most common chromosomal abnormalities in patients with MM are IGH gene rearrangement and Iq21 amplification ; the second most common ones are the deletion of RB1 and D13S319; the least one is the deletion of P53. It is more possible for chromosomal abnormalities to emerge in patients in stage Ⅲ and IGH ones. In view of the detection rate, FISH is a better technique than karyotype analysis of Conventional Cytogenetics （CC）. Thus, FISH can be used with CC as a karyotype analysis method in the clinical treatment of patients with MM.

关 键 词：多发性骨髓瘤 染色体 荧光原位杂交 基因异常 

分 类 号：R733.3[医药卫生—肿瘤]