摘要
目的探讨细胞遗传学异常分析对多发性骨髓瘤(MM)患者危险度分层及预后评估的作用。方法回顾性分析2015年1月至2017年12月200例初治的MM患者临床资料,采用原位荧光杂交法(FISH)对骨髓标本进行分子遗传学异常检测,分析不同染色体异常与临床指标、浆细胞表面免疫表型、治疗效果及预后的关系。结果FISH细胞遗传学异常检出率为77. 00%,其中IGH重排、RB1缺失、P53缺失、1q21扩增检出率分别为48. 50%、57. 00%、14. 50%、51. 50%。IGH重排阳性组浆细胞比例、国际分期系统(ISS)Ⅲ期、Durier-Salmon分期(DS)Ⅲ期比例高于阴性组; RB1缺失阳性组CD28表达率高于阴性组; P53缺失阳性组血钙(Ca2+)水平、骨髓中浆细胞比例、CD28表达率及ISSⅢ期、DSⅢ期比例高于阴性组,而CD117表达率低于阴性组(P <0. 05)。1q21扩增阳性组与阴性组临床指标比较差异均无统计学意义(P> 0. 05)。T-VAD方案(沙利度胺,长春新碱,吡柔比星,地塞米松)中IGH重排、P53缺失阳性组有效率均低于阴性组(P <0. 05); PD方案(硼替佐米,地塞米松)中P53缺失阳性组有效率低于阴性组(P <0. 05)。IGH重排阳性组总生存时间(OS)短于阴性组(P <0. 05); P53缺失阳性组OS与无进展生存时间(PFS)均短于阴性组(P <0. 05)。结论 MM患者细胞遗传学异常发生率高,且多种遗传学异常并存;细胞遗传学异常与临床指标、免疫表型、治疗效果及预后存在一定的相关性,其中P53缺失是OS及PFS减低,预后不良的因素,临床应重视对MM患者进行细胞遗传学异常的检测,以此指导临床治疗及预后分层评估。
Objective To investigate the role of cytogenetic abnormality analysis in risk stratification and prognosis assessment for patients with multiple myeloma( MM). Methods The clinical data of 200 newly treated patients with MM from January 2015 to December 2017 were retrospectively analyzed. In situ fluorescence hybridization( FISH) was used to detect molecular cytogenetic abnormalities in the bone marrow specimen,and the relationship between different chromosomal abnormalities and clinical index,cytoplasmic surface immunophenotype,treatment efficacy and prognosis was analyzed. Results FISH result showed that the detection rate of cytogenetic abnormalities was 77. 00% in which the detection rates of IGH rearrangement,RB1 deletion,P53 deletion and 1 q21 amplification were 48. 50%,57. 00%,14. 50%and 51. 50%,respectively. Plasma cell ratio,the ratio of International Staging System( ISS) Ⅲ stage,the ratio of DurierSalmon Staging System( DS) Ⅲ stage in IGH rearrangement positive group were significantly higher than those in negative group. The expression rate of CD28 in RB1 deletion positive group was significantly higher than that in RB1 deletion negative group. The blood calcium( Ca2 +) level,plasma cell ratio in bone marrow,CD28 expression rate,the ratio of ISS Ⅲstage and DS Ⅲ stage in P53 deletion positive group were significantly higher than those in P53 deletion negative group,while CD117 expression rate in P53 deletion positive group was significantly lower than that in P53 deletion negative group( all P < 0. 05). There was no significant difference in the clinical indexes between 1 q21 amplification positive and negative groups( P > 0. 05). In T-VAD regimen( thalidomide,vincristine,pirarubicin,dexamethasone),the effective rates of IGH rearrangement positive and P53 deletion positive were significantly lower than those of IGH rearrangement negative and P53 deletion negative( all P < 0. 05). In PD regimen( bortezomib,dexamethasone),the effective rate of P53 deletion positive was significantly lower than that of P53 deletion negative( P < 0. 05). The overall survival time( OS) in IGH rearrangement positive group was significantly shorter than that in IGH rearrangement negative group( P < 0. 05). The OS and the progression free survival time( PFS) in P53 deletion positive group were significantly lower than those in P53 deletion negative group( all P < 0. 05). Conclusions The MM patients have high incidence of cytogenetic abnormalities and coexistence of multiple genetic abnormalities. The cytogenetic abnormality is related to clinical indicator,immunophenotype,therapeutic effect and prognosis. P53 deletion is a factor of poor prognosis with shorter OS and PFS. The detection of cytogenetic abnormalities should be paid attention in clinic for guiding the clinical treatment and prognosis stratified evaluation of MM patients.
作者
刘丹
姚红霞
王谷云
LIU Dan;YAO Hong-xia;WANG Gu-yun(Department of Hematology,Hainan Provincial People's Hospital,Haikou,Hainan 570000,China)
出处
《中国临床研究》
CAS
2019年第2期190-194,共5页
Chinese Journal of Clinical Research
关键词
多发性骨髓瘤
细胞遗传学
原位荧光杂交法
基因异常
Multiple myeloma
Cytogenetics
Fluorescence in situ hybridization
Gene abnormality
