摘要
目的探讨原发性骨弥漫性大B细胞淋巴瘤(primary bone diffuse large B-cell lymphoma,PB-DLBCL)的临床病理特征、突变图谱及预后影响因素。方法纳入2006年5月至2021年9月上海交通大学医学院附属瑞金医院收治的初治PB-DLBCL患者37例。采用淋巴瘤相关55个基因靶向测序描绘PB-DLBCL患者的突变图谱,采用单因素Cox回归模型评估临床因素和基因突变与无进展生存期(PFS)和总生存期(OS)之间的关系。结果37例初治PB-DLBCL患者中,男性21例(56.8%),年龄>60岁21例(56.8%),Ann Arbor分期为Ⅳ期22例(59.5%),非生发中心来源(non-GCB)亚型22例(59.5%),国际预后指数评分为3~5的患者18例(48.6%)。靶向测序结果显示,MYD88、PIM1、CCND3、CD79B、CIITA、HIST1H1E、KMT2C、PRDM1、TNFAIP3、ZFP36L1为常见突变,突变频率高于20%。单因素分析结果显示,BTG2基因突变(P=0.015)、MYD88基因突变(P=0.049)及MYC/BCL2双表达淋巴瘤(DEL,P=0.009)与PB-DLBCL患者低PFS率显著相关。结论PB-DLBCL患者中non-GCB亚型较为常见,DEL,BTG2和MYD88基因突变是PB-DLBCL患者PFS的不良影响因素。
Objective To explore the clinicopathological features,mutation profile and prognostic influencing factors of primary bone diffuse large B-cell lymphoma(PB-DLBCL).Methods Patients newly diagnosed with PB-DLBCL in Ruijin Hospital,Shanghai Jiao Tong University School of Medicine from May 2006 to September 2021 were enrolled in this study.Lymphoma related 55 gene targeted sequencing was used to describe the mutation landscape of patients.Univariate Cox regression model was used to evaluate the relationship between clinical factors and gene mutation status and progression free survival(PFS)and overall survival(OS).Results A total of 37 patients newly diagnosed with PB-DLBCL were enrolled,among which 21 cases were male(56.8%)and 21 patients(56.8%)aged>60 years old.22 patients(59.5%)were diagnosed at a stage ofⅣ,22 cases(59.5%)were non-germinal center B cell(non-GCB)subtypes,and 18 patients(48.6%)had international prognostic index(IPI)scores of 3-5.The results of targeted sequencing showed that MYD88,PIM1,CCND3,CD79B,CIITA,HIST1H1E,KMT2C,PRDM1,TNFAIP3 and ZFP36L1 were common mutation genes,with the mutation frequency higher than 20%.Univariate analysis showed that BTG2 gene mutation(P=0.015),MYD88 gene mutation(P=0.049)and double expressor lymphoma(DEL,P=0.009)were significantly associated with low PFS rate in PB-DLBCL patient.Conclusions Non-GCB subtype is more common in PB-DLBCL patients,and DEL,BTG2 and MYD88 gene mutations are adverse influencing factors for PFS in PB-DLBCL patients.
作者
施晴
袁跃兴
易红梅
董磊
王黎
程澍
许彭鹏
赵维莅
SHI Qing;YUAN Yue-xing;YI Hong-mei;DONG Lei;WANG Li;CHENG Shu;XU Peng-peng;ZHAO Wei-li(Department of Hematology,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,State Key Laboratory of Medical Genomics,Shanghai Institute of Hematology,Shanghai 200025,China;Departmant of Hematology and Rheumatology,Longyan First Hospital Affiliated to Fujian Medical University,Longyan 364000,Fujian,China)
出处
《中国临床医学》
2023年第5期772-777,共6页
Chinese Journal of Clinical Medicine
关键词
原发性骨弥漫性大B细胞淋巴瘤
临床病理特征
突变图谱
预后
primary bone diffuse large B-cell lymphoma
clinicopathological features
mutation landscape
prognosis
