FISH技术检测多发性骨髓瘤染色体异常的实验研究  

Fluorescence in situ hybridization technology in the study of multiple myeloma

作　　者：赵丽[1] 杨柳[1] 李娟[1] 蒲玉栋[1] 周兰霞[1] 孙媛媛[1] 金梦迪[1] 李婷[1] 王子妍[1] 

机构地区：[1]兰州大学第一医院中心实验室,兰州730000

出　　处：《中国实用内科杂志》2009年第10期917-919,共3页Chinese Journal of Practical Internal Medicine

基　　金：国家卫生部科研基金(WKJ2007-3-001)

摘　　要：目的研究多发性骨髓瘤(MM)患者常见染色体异常的发生率及常见染色体异常与实验室检查的相关性。方法收集甘肃省兰州市4家三甲医院中2007年11月至2009年3月16例初治MM骨髓标本,用荧光原位杂交(FISH)技术对1q21扩增、RB1缺失、D13S319缺失、p53缺失及IGH重排5种染色体异常进行检测。结果16例患者中5种染色体异常的发生率分别为IGH重排69%;其次为13q缺失50%,其中RB138%,D13S31925%;1q21扩增38%;无p53缺失患者。多因素分析显示IGH与高水平的β2微球蛋白(β2-MG)、髓内浆细胞增多及骨损有显著相关性;13q缺失与β2-MG、性别、ISS分期、乳酸脱氢酶(LDH)、血小板(PLT)减少症、丙氨酸转氨酶(ALT)及白细胞(WBC)异常有显著相关性;1q21扩增与C反应蛋白(CRP)及年龄有显著相关性。结论IGH重排在MM发生率最高;13q缺失在MM患者中发生范围很广;1q21重排一般发生在疾病进展阶段;p53在MM中缺失率低。FISH技术对于MM染色体异常的检出率明显高于常规遗传学方法。Objective To study the incidence of multiple myeloma patients with common chromosomal abnormalities and the relevance of the chromosomal abnormalities and laboratory examinations. Methods We have collected 16 cases of untreated multiple myeloma patients with bone marrow specimens, using interphase fluorescence in situ hybridization with probe 1q21 amplification, RB1 deletion, D13S319 deletion, p53 deletion and IGH rearrangement. Results 16 patients with multiple myeloma,the incidence of different 5 chromosomal abnormalities were ：IGH rearrangement 69%, 13 deletion 50% （RB1 38% ;D13S319 25% ）, 1q21 amplification 38% ,p53 deletion 0. Serum b2-microglobulin,Intramedullary plasmacytosis and Bone loss associated with IGH rearrangement ;Serumβ2-microglobulin, sex, ISS stage, Lactate dehydrogenase （LDH） ,Platelet（PLT） ,Alanine aminotransferase （ALT） , and Leukocyte abnormal associated with 13 deletion; C-reactive protein （CRP）, and age associated with 1 q21 amplification. Conclusion IGH rearrangement happened earlier in MM. There is a wide range of deletion 13q. 1q21 rearrangement also occurred in the stage of disease progression. There is a low rate of p53 mutation in MM. MM detection rate of chromosomal abnormalities by FISH technology was significantly superior than the traditional methods.

关 键 词：多发性骨髓瘤 荧光原位杂交 染色体异常 

分 类 号：R5[医药卫生—内科学]