Zhou Chunhui, Cui Yong, Sun Haomin, Yang Fan, Zhao Hao, Huangfu Luokai, Zhang Jianning
Medical School of Chinese PLA, Beijing, China.
Department of Neurosurgery, PLA General Hospital, Beijing, China.
Transl Cancer Res. 2021 Jun;10(6):2632-2642. doi: 10.21037/tcr-20-2525.
Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin's lymphoma, and hence, a comprehensive understanding based on the gene expression profile is imperative. Although several studies have identified some critical mutant genes of DLBCL, the disease in the central nervous system has not been investigated clearly. This study is aimed to identify some novel and important mutant genes of DLBCL in central nervous system.
A total of 156 cases of central nervous tumors were collected from 2016 to 2018, in which the DLBCL cases were confirmed by H&E staining and immunohistochemistry. With the whole-genome high-throughput sequencing, the mutations of samples were identified. By matching with TCGA database, the common mutations of DLBCL were further confirmed.
Twelve cases were designated as DLBCL, of which 1 case was classified into germinal center B cell (GCB) subtype, and 11 cases were non-GCB subtypes. The gene mutation spectrum demonstrated that the most common substitutions of six single bases were C>T/G>A, wherein the mutation frequency of C(C>T) G was the highest. The most common type of mutation is missense, and the most frequently mutated genes included , , , and . Based on the TCGA database, finally, the 4 significantly mutated genes (SMG), including , , , and common in the above groups, were identified.
Taken together, the analysis of the TCGA database and the results of the sequencing experiment displayed four mutations that might provide novel targets for the treatment of DLBCL.
弥漫性大B细胞淋巴瘤（DLBCL）是最常见的非霍奇金淋巴瘤类型，因此，基于基因表达谱进行全面了解势在必行。尽管多项研究已鉴定出DLBCL的一些关键突变基因，但中枢神经系统中的该疾病尚未得到明确研究。本研究旨在鉴定中枢神经系统中DLBCL的一些新的重要突变基因。
2016年至2018年共收集156例中枢神经肿瘤病例，其中DLBCL病例经苏木精-伊红染色和免疫组织化学确诊。通过全基因组高通量测序鉴定样本中的突变。通过与TCGA数据库匹配，进一步确认DLBCL的常见突变。
12例被诊断为DLBCL，其中1例为生发中心B细胞（GCB）亚型，11例为非GCB亚型。基因突变谱显示，六个单碱基最常见的替换是C>T/G>A，其中C（C>T）G的突变频率最高。最常见的突变类型是错义突变，最常发生突变的基因包括 、 、 、 和 。最后，基于TCGA数据库，确定了上述组中共同存在的4个显著突变基因（SMG），包括 、 、 和 。
综合来看，TCGA数据库分析和测序实验结果显示了四个突变，可能为DLBCL的治疗提供新的靶点。
