伴MYC、BCL2和(或)BCL6重排的高级别B细胞淋巴瘤在弥漫大B细胞淋巴瘤中的发生率  

The incidence of high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements in diffuse large B-cell lymphoma

作　　者：李敏[1] 张秋露 赵炜[3] 黄欣[1] 宫丽平[3] 史秦峰 刘翠苓[1] 高子芬[1] Li Min;Zhang Qiulu;Zhao Wei;Huang Xin;Gong Liping;Shi Qinfeng;Liu Cuiling;Gao Zifen(Department of Pathology,Third Hospital,School of Basic Medical Sciences,Peking University,Beijing 100191,China;West China School of Medicine,Sichuan University,Chengdu 610041,China;Clinical Laboratory Center,Capital Medical University,Beijing 100069,China;Department of Pathology,Capital Medical University,Beijing 100069,China)

机构地区：[1]北京大学第三医院病理科,北京大学基础医学院病理学系,100191 [2]四川大学华西临床医学院,成都610041 [3]首都医科大学临床检验中心,北京100069 [4]首都医科大学病理学系,北京100069

出　　处：《中华血液学杂志》2021年第2期124-128,共5页Chinese Journal of Hematology

摘　　要：目的探究伴MYC、BCL2和(或)BCL6重排的高级别B细胞淋巴瘤在弥漫大B细胞淋巴瘤(DLBCL)中的发生率。方法回顾性收集2013年1月至2020年8月共922例DLBCL患者的临床资料,检测C-MYC及BCL2蛋白表达情况,并应用FISH技术检测MYC、BCL2和BCL6基因断裂及拷贝数变化等结构异常。结果922例DLBCL病例中,29例(3.15%)检测到MYC、BCL2和(或)BCL6基因断裂,其中25例为双重打击淋巴瘤(DHL),14例为MYC合并BCL2基因断裂,11例为MYC合并BCL6基因断裂;4例为三重打击淋巴瘤(THL)。以C-MYC表达≥40%、BCL2表达≥50%作为阳性阈值时,541例(58.68%)患者同时高表达C-MYC和BCL2;以C-MYC表达≥70%及BCL2表达≥50%作为阳性阈值时,52例(5.64%)患者同时高表达C-MYC和BCL2。DHL患者中,22例C-MYC表达≥40%且BCL2表达≥50%,其中9例C-MYC表达≥70%且BCL2表达≥50%。709例患者检测了P53蛋白表达,其中101例(14.25%)为突变型,13例(1.83%)为阴性,提示可能存在大片段缺失。结论伴MYC、BCL2和(或)BCL6重排的高级别B细胞淋巴瘤在DLBCL中的发生率较低,基因结构异常与蛋白高表达之间无明显相关性;DHL的检出依赖分子遗传学检测。Objective To investigate the incidence of high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangement in Chinese diffuse large B-cell lymphoma(DLBCL).Methods From January 2013 to August 2020,922 DLBCL cases were collected.C-MYC and BCL2 protein expression levels were analyzed by immunohistochemistry staining.Fluorescence in situ hybridization was used to detect the structural abnormalities of MYC,BCL2,and BCL6,including gene breaks and copy number changes.Results MYC and BCL2 and/or BCL6 gene breaks were found in 29 out of 922 DLBCL cases(3.15%),including 25 cases of double-hit lymphoma(DHL;14 cases involving MYC and BCL2 rearrangements and 11 cases involving MYC and BCL6 rearrangements)and four cases involving MYC,BCL2,and BCL6 rearrangements,referring to triple-hit lymphoma.According to the threshold of C-MYC≥40%and BCL2≥50%,541 cases(58.68%)overexpressed C-MYC and BCL2 proteins,including 22 DHL cases.Moreover,according to the threshold of C-MYC≥70%and BCL2≥50%,52 cases(5.64%)overexpressed C-MYC and BCL2 proteins,including nine DHL cases.The P53 protein expression was detected by immunohistochemistry staining.The mutant P53 expression pattern was shown in 101 out of 709 cases(14.25%),whereas 13 cases(1.83%)were negative,likely indicating P53 gene fragment deletion.Conclusion The incidence of high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements was low in DLBCLs,and no significant correlation between gene abnormality and protein overexpression was shown.The correct diagnosis of DHL depends on molecular genetic detection.

关 键 词：淋巴瘤 大B细胞 弥漫性 淋巴瘤 高级别 基因 MYC 基因 BCL2 

分 类 号：R733.1[医药卫生—肿瘤]