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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 common chromosomal abnormalities in patients with multiple myeloma (MM) and the correlation between common chromosomal abnormalities and laboratory tests. Methods Twenty-six newly diagnosed MM bone marrow samples were collected from 4 top three hospitals in Lanzhou City of Gansu Province from November 2007 to March 2009, and 1q21 amplification, deletion of RB1, deletion of D13S319 and deletion of p53 were detected by fluorescence in situ hybridization (FISH) And IGH rearrangement five kinds of chromosomal abnormalities were detected. Results The incidence of 5 chromosomal abnormalities in 16 patients were 69% of IGH rearrangements, followed by 50% of 13q deletion, RB138%, D13S31925%, 1q21 amplification of 38%, and no p53 deletion. Multivariate analysis showed that IGH was significantly associated with high levels of β2-microglobulin (β2-MG), intramedullary plasma cells and bone loss; 13q deletion was associated with β2-MG, gender, ISS staging, lactate dehydrogenase ), Thrombocytopenia (PLT), ALT and WBC abnormalities. There was a significant correlation between 1q21 amplification and C-reactive protein (CRP) and age. Conclusions IGH rearrangement has the highest incidence in MM. The 13q deletion has a wide range in patients with MM. The 1q21 rearrangement usually occurs in the stage of disease progression. The deletion rate of p53 in MM is low. FISH technology for the detection of MM chromosome abnormalities was significantly higher than conventional genetic methods.