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Title: [The incidence of high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements in diffuse large B-cell lymphoma].
Author: Li M, Zhang QL, Zhao W, Huang X, Gong LP, Shi QF, Liu CL, Gao ZF.
Journal: Zhonghua Xue Ye Xue Za Zhi; 2021 Feb 14; 42(2):124-128. PubMed ID: 33858042.
Abstract:
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. 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。.

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