摘要
目的 探讨原发CD5阳性的弥漫大B细胞淋巴瘤(diffuse large B cell lymphoma, DLBCL)的临床病理及分子学特征。方法 收集18例原发CD5+DLBCL的临床资料,采用免疫组化EnVision两步法检测CD3、CD5、CD7、CD20、PAX-5、CD10、BCL-6、BCL-2、C-MYC、MUM1等表达;应用FISH法检测C-MYC、BCL-2及BCL-6基因断裂;采用一代测序法检测MYD88 L265P、CD79B Y196F的突变;并复习相关文献。结果 18例CD5+DLBCL中有3例(16.7%)CD30阳性;13例(72.2%)C-MYC阳性,16例(88.9%)BCL-2阳性,其中C-MYC和BCL-2双阳性12例(66.7%);15例(83.3%)BCL-6阳性;14例(81.8%)伴p53突变(13例错义突变、1例无义突变)。10例(55.6%)肿瘤细胞PD-1阳性,阳性率5%~80%;肿瘤浸润淋巴细胞PD-1阳性,阳性率5%~60%。8例(44.4%)肿瘤细胞PD-L1阳性,阳性率2%~80%;免疫细胞PD-L1均阳性,阳性率3%~90%。C-MYC在2例(11.1%)中检测有扩增,无重排。BCL-2有3例(16.7%)扩增,1例(5.6%)重排。BCL-6检测有1例(5.6%)扩增,1例(5.6%)重排,1例(5.6%)既有扩增又有重排。MYD88检测到4例突变(22.2%),CD79B检测有8例突变(44.4%),其中3例同时具有MYD88和CD79B突变(16.7%)。结论 原发CD5+DLBCL中MYC和BCL-2阳性率高,但突变率低。肿瘤细胞及免疫细胞中PD-1及PD-L1的阳性率较高,PD-1/PD-L1抑制剂可能是其有效的治疗途径。
Purpose To investigate the clinicopathological and molecular characteristics of de novo CD5-positive diffuse large B-cell lymphoma(CD5+DLBCL). Methods The clinical data of 18 cases of primary CD5+DLBCL were collected, and the expression of CD3, CD5, CD7, CD20, PAX-5, CD10, BCL-6, BCL-2, C-MYC, and MUM1 was detected by immunohistochemistry EnVision two-step method. The broken genes of C-MYC, BCL-2 and BCL-6 were detected by FISH. The MYD88 L265P and CD79B Y196F mutation were detected by the first generation sequencing method. And relevant literature was reviewed. Results Of the 18 patients, 3 patients(16.7%) partially expressed CD30, 13 patients(72.2%) expressed C-MYC, 16 patients(88.9%) expressed BCL-2 [12 patients(66.7%) expressed both C-MYC and BCL-2], and 15 patients(83.3%) expressed BCL-6. 14 patients(81.8%) were associated with p53 mutation(13 missense mutation and 1 nonsense mutation). 10 cases expressed PD-1 in tumor cells(55.6%) with a positive ratio of 5%-80%. All cases expressed PD-1 in tumor infiltrating lymphocytes with a positive ratio of 5%-60%. 8 cases(44.4%) expressed PD-L1 in tumor cells with a positive ratio of 2%-80%. All cases expressed PD-L1 in immune cells with a positive ratio of 3%-90%. C-MYC amplification was detected in 2 cases(11.1%) without rearrangement. BCL-2 was amplified in 3 cases(16.7%) and rearranged in 1 case(5.6%). BCL-6 amplification was detected in 1 case(5.6%), rearrangement in 1 case(5.6%), and both amplification and rearrangement in 1 case(5.6%). This study found that 4 cases(22.2%) had MYD88 mutation and 8 cases(44.4%) had CD79B mutation, of which 3 cases(16.7%) had both MYD88 and CD79B mutations. Conclusion De novo CD5+DLBCL has a high immunohistochemical expression and a low mutation rate of MYC and BCL-2. The expression rate of PD-1 and PD-L1 in tumor cells and immune cells of de novo CD5+DLBCL are high, and the PD-1/PD-L1 inhibitor may be its effective treatment approach.
作者
石峰
高颖
赵洪禹
昌红
SHI Feng;GAO Ying;ZHAO Hong-yu;CHANG Hong(Department of Pathology,Beijing Shijitan Hosipital,Capital Medical University,Beijing 100038,China)
出处
《临床与实验病理学杂志》
CAS
北大核心
2023年第2期162-168,共7页
Chinese Journal of Clinical and Experimental Pathology
基金
北京市重点实验室开放研究课题(2020KF06)。
