RB1基因缺失与多发性骨髓瘤预后的关系及肾功能不全在其中的影响  

Relationship between RB1 gene deletion and prognosis of multiple myeloma and effect of renal insufficiency on it

作　　者：郎芯悦 张桂华 张焕新 刘凯歌 宋正霞 徐开林 徐金格 张秋荣 Lang Xinyue;Zhang Guihua;Zhang Huanxin;Liu Kaige;Song Zhengxia;Xu Kailin;Xu Jinge;Zhang Qiurong(Department of Hematology,the Second Affiliated Hospital of Xuzhou Medical University,Xuzhou 221006,China;Department of Hematology,Xuzhou Cancer Hospital,Xuzhou 221006,China;Department of Hematology,the Affiliated Hospital of Xuzhou Medical University,Xuzhou 221006,China)

机构地区：[1]徐州医科大学第二附属医院血液科,徐州221006 [2]徐州市肿瘤医院血液科,徐州221006 [3]徐州医科大学附属医院血液科,徐州221006

出　　处：《肿瘤研究与临床》2025年第2期124-131,共8页Cancer Research and Clinic

基　　金：江苏省卫生健康委员会科研面上项目(H2023109);江苏省骨髓干细胞重点实验室项目(XZSYSKF2020037);徐州市科技计划(KC23231、KC21226)。

摘　　要：目的探讨多发性骨髓瘤(MM)患者视网膜母细胞瘤结合蛋白1(RB1)基因缺失与预后的关系,及肾功能不全在其中的可能影响。方法回顾性队列研究。收集2020年12月至2023年11月在徐州医科大学第二附属医院和徐州医科大学附属医院就诊的MM患者临床资料和随访信息。根据荧光原位杂交(FISH)检测骨髓样本有无RB1基因缺失,将入组患者分为RB1基因缺失组和RB1基因未缺失组,比较两组临床病理特征和血液学指标水平。以肾功能评估指标血清肌酐(Scr)>177μmol/L确定为肾功能不全。采用Spearman检验分析MM患者RB1基因缺失阳性细胞数与Scr水平、血红蛋白水平、血清钙水平之间的关系。采用Kaplan-Meier法进行无进展生存(PFS)分析,采用Cox比例风险模型分析全组MM患者及RB1基因缺失和非缺失MM患者PFS的影响因素。结果共纳入75例MM患者,其中RB1基因缺失24例(32.0%)。RB1基因缺失组和RB1基因未缺失组间性别、是否年龄≥65岁、是否骨破坏患者的分布及乳酸脱氢酶水平差异均无统计学意义(均P>0.05),两组间MM国际分期系统(ISS)、修订的国际分期系统(R-ISS)各分期患者分布及血红蛋白、血清钙、Scr、β2-微球蛋白、血清清蛋白水平和骨髓浆细胞比例差异均有统计学意义(均P<0.05)。RB1基因缺失阳性细胞数与Scr水平呈正相关(r=0.863,P=0.016),与血红蛋白、血清钙水平均不相关(均P>0.05)。RB1基因未缺失组PFS优于RB1基因缺失组(1年PFS率:83.5%比71.7%,2年PFS率:56.3%比26.3%),差异有统计学意义(P=0.012);非肾功能不全组PFS优于肾功能不全组(1年PFS率:85.6%和61.9%,2年PFS率:58.0%比13.5%),差异有统计学意义(P=0.001);RB1基因缺失组和未缺失组中非肾功能不全患者的PFS均优于肾功能不全患者,差异均有统计学意义(均P<0.05)。多因素Cox回归分析显示,ISSⅢ期是影响MM患者PFS不良的独立危险因素(Ⅲ期比Ⅰ期,HR=11.317,95%CI:1.220~104.979,P=0.033)�ObjectiveTo investigate the relationship between retinoblastoma binding protein 1(RB1)gene deletion and the prognosis of multiple myeloma(MM)patients,and the possible effect of renal insufficiency on it.MethodsA retrospective cohort study was conducted.The clinical data and follow-up information of MM patients who were treated in the Second Affiliated Hospital of Xuzhou Medical University and the Affiliated Hospital of Xuzhou Medical University from December 2020 to November 2023 were collected.According to the presence of RB1 gene deletion in bone marrow samples detected by fluorescence in situ hybridization(FISH),the patients were divided into the RB1 gene deletion group and the RB1 gene non-deletion group,and the clinicopathological characteristics and hematological index levels were compared between the two groups.Renal insufficiency was determined by renal function assessment indicator serum creatinine(Scr)>177μmol/L.The Spearman test was used to analyze the relationship between the number of RB1 gene deletion positive cells and levels of Scr,hemoglobin and serum calcium in MM patients.The Kaplan-Meier method was used to analyze progression-free survival(PFS),and the Cox proportional hazards model was used to determine the influencing factors of PFS in all MM patients and RB1 gene deletion and non-deletion MM patients.ResultsA total of 75 MM patients were enrolled,of whom 24(32.0%)had RB1 gene deletion.There were no significant differences in gender,age≥65 years old,bone destruction and lactate dehydrogenase level between the RB1 gene deletion and non-deletion groups(all P>0.05).There were significant differences in the distributions of patients in each stage of MM International Staging System(ISS)and revised International Staging System(R-ISS)between the two groups,as well as in hemoglobin,serum calcium,Scr,β2-microglobulin,serum albumin levels,and the proportion of bone marrow plasma cells(all P<0.05).The number of RB1 gene deletion positive cells was positively correlated with Scr level(r=0.863,P=0.01

关 键 词：多发性骨髓瘤 视网膜母细胞瘤结合蛋白 基因缺失 肾功能不全 预后 

分 类 号：R73[医药卫生—肿瘤]