心脏弥漫大B细胞淋巴瘤11例临床病理特征、疗效、预后和突变分析  

Analysis of clinicopathological features,therapeutic efficacy,prognosis and mutation in 11 patients with cardiac diffuse large B-cell lymphoma

作　　者：赵娜 施晴 程澍[1] 王黎[1] 许彭鹏[1] 赵维莅[1] Zhao Na;Shi Qing;Cheng Shu;Wang Li;Xu Pengpeng;Zhao Weili(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;Department of Hematology,Shanghai Pudong Hospital,Fudan University Pudong Medical Center,Shanghai 201399)

机构地区：[1]上海交通大学医学院附属瑞金医院血液科,医学基因组学国家重点实验室,上海血液学研究所,上海200025 [2]上海市浦东医院,复旦大学附属浦东医院血液科,上海201399

出　　处：《白血病．淋巴瘤》2024年第2期97-103,共7页Journal of Leukemia & Lymphoma

基　　金：国家自然科学基金(82070204)。

摘　　要：目的探讨心脏弥漫大B细胞淋巴瘤(DLBCL)患者的临床病理特征、突变情况、疗效及预后影响因素。方法回顾性病例系列研究。回顾性分析2016年1月至2020年10月上海交通大学医学院附属瑞金医院收治的11例心脏DLBCL患者的临床资料。采用NovaSeq测序平台对5例患者基因突变进行检测,通过公共数据库对测序数据进行生物信息学分析,确定致病性基因突变位点。采用Kaplan-Meier法分析患者无进展生存(PFS)、总生存(OS),采用单因素Cox比例风险模型分析影响患者预后相关因素。结果11例心脏DLBCL患者中男性5例,女性6例;年龄[M(Q_(1),Q_(3))]61岁(45岁,70岁);均为非生发中心B细胞(non-GCB)型;原发性2例,继发性9例;Ann Arbor分期Ⅲ~Ⅳ期9例;乳酸脱氢酶(LDH)升高10例;国际预后指数(IPI)评分≥3分9例。11例患者中,9例接受了以R-CHOP(利妥昔单抗、环磷酰胺、表柔比星/盐酸多柔比星脂质体、长春新碱、泼尼松)为基础的一线治疗方案,其中8例获得完全缓解(CR),1例疾病稳定(SD);1例接受了IR2(伊布替尼、利妥昔单抗、来那度胺)方案治疗,疗效为SD;1例患者仅接受支持治疗,疗效为疾病进展。随访39.9个月(25.6个月,57.3个月),11例患者3年PFS率为54.5%,3年OS率为77.9%。单因素Cox回归分析显示,性别、B症状、Ann Arbor分期、LDH水平、结外病变数、IPI评分与患者的PFS和OS均无相关性(均P>0.05)。5例行基因检测患者中,KMT2D和PIM1突变各2例,且KMT2D突变仅出现在继发性心脏DLBCL患者中(2/3),PIM1突变仅出现在原发性心脏DLBCL患者中(2/2)。结论心脏DLBCL患者多为non-GCB型,患者临床分期较高,可获益于R-CHOP方案。PIM1和KMT2D是心脏DLBCL的常见突变基因。Objective To investigate the clinicopathological features,mutation,therapeutic efficacy and the factors influencing the prognosis of patients with cardiac diffuse large B-cell lymphoma(DLBCL).Methods A retrospective case series study was performed.The clinical data of 11 cardiac DLBCL patients in Ruijin Hospital of Shanghai Jiao Tong University School of Medicine from January 2016 to October 2020 were retrospectively analyzed.NovaSeq sequencing platform was used to detect gene mutations in 5 patients,and bioinformatics analysis of sequencing data was conducted through public database to identify the mutation sites of pathogenic genes.Kaplan-Meier method was used to analyze the progression-free survival(PFS)and the overall survival(OS).Univariate Cox proportional risk model was used to analyze the influencing factors of prognosis.Results Among 11 patients with cardiac DLBCL,5 were male and 6 were female.The age[M(Q_(1),Q_(3))]was 61 years(45 years,70 years).All 11 patients were non-germinal center B-cell(non-GCB)type.There were 2 primary cases and 9 secondary cases;9 cases with Ann Arbor stage ofⅢ-Ⅳ,10 cases with increased lactate dehydrogenase(LDH)and 9 cases with international prognostic index(IPI)score equal to or higher than 3 scores.Among 11 patients,9 cases received a first-line treatment based on the R-CHOP(rituximab,cyclophosphamide,epirubicin/doxorubicin hydrochloride liposomes,vincristine and prednisone)regimen,of which 8 patients achieved complete remission(CR),and 1 patient achieved stable disease(SD);1 patient received IR2(ibrutinib+rituximab+lenalidomide)treatment regimen and achieved SD,and 1 patient received supportive treatment only and achieved progression of the disease.The follow-up time was 39.9 months(25.6 months,57.3 months).The 3-year PFS rate and 3-year OS rate of 11 patients was 54.5%,77.9%,respectively.Univariate Cox regression analysis showed that gender,B symptoms,Ann Arbor stage,LDH level,number of extranodal lesions,IPI score were not correlated with PFS and OS of patients(all P>

关 键 词：淋巴瘤 大B细胞 弥漫性 心脏肿瘤 治疗结果 预后 

分 类 号：R732.1[医药卫生—肿瘤]