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目的:探讨荧光原位杂交技术(FISH)检测多发性骨髓瘤(MM)浆细胞异常基因的应用价值,提高对MM克隆演进方面的认识。方法:利用FISH技术检测122例MM患者的5种异常基因,并回顾性分析其临床表现、实验室检查、临床分期。结果:FISH技术检测101例MM患者中1q21扩增37.6%、RB1缺失13.9%、D13S319缺失18.8%、P53缺失9.9%、IGH易位22.8%、两重或多重基因异常18.8%,FISH的总体阳性率为77.2%;而21例冒烟型MM(SMM)中,以上基因异常依次为9.5%、9.5%、14.3%、0、14.3%、4.8%,FISH的总体阳性率为42.9%。经软件分析,MM阳性率明显高于SMM,1q21及P53基因差异有统计学意义(P<0.05),出现双重及多重基因异常及两者的总体阳性率差异也有统计学意义(P<0.05),而且与MM的临床分期相关。结论:FISH可检测MM异常克隆的骨髓瘤细胞,最常见的染色体异常是1q21及IGH重排。SMM与MM的FISH阳性检出率的差异有统计学意义,FISH技术在MM的克隆演进方面研究具有重要应用价值。
Objective: To investigate the value of fluorescence in situ hybridization (FISH) in detection of plasma cell abnormal gene in multiple myeloma (MM) and to improve the understanding of MM clonal evolution. Methods: FISH was used to detect five abnormal genes in 122 patients with MM. The clinical manifestations, laboratory tests and clinical staging were retrospectively analyzed. Results: FISH detected 37.6% of 1q21, 13.9% of RB1, 18.8% of D13S319, 9.9% of P53, 22.8% of IGH translocations, 18.8% of double or multiple genes, and the overall positive of FISH The odds ratio was 77.2%. Among the 21 SMM smokers, the above gene abnormalities were 9.5%, 9.5%, 14.3%, 0,14.3% and 4.8%, respectively. The overall positive rate of FISH was 42.9%. The software analysis showed that the positive rate of MM was significantly higher than that of SMM, the difference of 1q21 and P53 was statistically significant (P <0.05), and there was significant difference between double and multiple gene abnormalities and overall positive rate (P <0.05) , But also with the clinical stage of MM related. CONCLUSION: FISH can detect MM abnormally cloned myeloma cells. The most common chromosomal abnormalities are 1q21 and IGH rearrangements. The difference of FISH positive detection rate between SMM and MM was statistically significant, and the FISH technology was of great value in the study of MM clonal evolution.