具超二倍体特征的多发性骨髓瘤患者染色体核型分析

Chromosomal analysis of patients with hyperdiploid multiple myeloma

目的:分析具有超二倍体特征的多发性骨髓瘤(MM)患者的临床特点,预后及细胞遗传学特征。方法:收集2009至2018年在温州医科大学附属第二医院诊断为MM的患者资料,对其骨髓细胞行短期培养,应用R显带技术及FISH检测染色体异常,筛选出超二倍体患者并进行核型特征分析。再采用Mantel-Cox法构建生存曲线,Log-rank检验比较超二倍体与非超二倍体患者的总体生存期。结果:超二倍体MM患者的发生率为22%(33/150),且其染色体三体性以检出+5(23/33),+3(18/33),+19(17/33),+9(16/33)较常见;易见ABL、PML、1q21信号扩增,RB1缺失;但患者的中位生存时间为18.5个月,与非超二倍体患者(15个月)比较差异无统计学意义;同时复发MM患者也易出现超二倍体。结论:超二倍体在MM中发生率较高,且伴随染色体三体性特征,而增加的染色体同时存在基因表达的多样性,与预后有一定的相关性。

Objective:To analyze the clinical features,prognosis and cytogenetic characteristics of multiple myeloma patients with hyperdiploid.Methods:Detailed data of patients diagnosed as multiple myeloma(MM)were collected from the Second Affiliated Hospital&Yuying Children’s Hospital of Wenzhou Medical University between 2009 and 2018.Bone marrow cells were cultured for a short time and karyotype was detected by routine R-banding analysis and FISH technique.Then,the karyotype characteristics of hyperdiploid patients were screened and analyzed.Furthermore,the survival curve was constructed by Mantel-Cox method,and the overall survival time of hyperdiploid and non-hyperdiploid patients was compared by Log-rank test.Results:The incidence of hyperdiploid MM patients was 22%(33/150),and the most frequent detection rate of trisomy was+5(23/33),+3(18/33),+19(17/33),+9(16/33).The gene ABL,PML,1q21 amplification and RB1 deletion was common.However,the median survival time of hyperdiploid MM patients was 18.5 months,which had no statistical difference from that of non-hyperdiploid patients(15 months).Meanwhile,recurrent MM patients were also prone to hyperdiploid karyotype.Conclusion:The incidence of hyperdiploidy is frequent in MM,accompanied by trisomy.The diversity of gene expression is very common in the increased chromosomes,which is correlated with the prognosis.