Abstract：
Primary central nervous system lymphoma (PCNSL) is a rare extranodal non-Hodgkin lymphoma with poor prognosis. In recent years, the emergence of genetic subtypes of systematic diffuse large B-cell lymphoma has highlighted the importance of molecular genetics, but large-scale research on the molecular genetics of PCNSL is lacking. Herein, we summarize the frequent gene mutations and discuss the possible pathogenesis of PCNSL. Myeloid differentiation primary response gene 88 (MYD88) and CD79B mutations, which cause abnormal activation of noncanonical nuclear factor-κB, are prominent genetic abnormalities in PCNSL. They are considered to play a major role in the pathogenesis of PCNSL. Other genes, such as caspase recruitment domain family member 11 (CARD11), tumor necrosis factor alpha induced protein 3 (TNFAIP3), transducin (β)-like 1 X-linked receptor 1, cyclin dependent kinase inhibitor 2A, PR domain zinc finger protein 1, and proviral insertion in murine malignancies 1, are also frequently mutated. Notably, the pathogenesis of immune insufficiency-associated PCNSL is related to Epstein-Barr virus infection, and its progression may be affected by different signaling pathways. The different mutational patterns in different studies highlight the heterogeneity of PCNSL. However, existing research on the molecular genetics of PCNSL is still limited, and further research into PCNSL is required to clarify the genetic characteristics of PCNSL.
摘要：
原发性中枢神经系统淋巴瘤（PCNSL）是一种罕见的结外非霍奇金淋巴瘤，预后较差。近年来,系统性弥漫性大B细胞淋巴瘤遗传亚型的出现突出了分子遗传学的重要性,但是缺乏对PCNSL分子遗传学的大规模研究。在这里，我们总结了常见的基因突变，并讨论了PCNSL的可能发病机制。髓样分化原发反应基因88(MYD88)和CD79B突变,导致非经典核因子-κB的异常激活，是PCNSL中突出的遗传异常。它们被认为在PCNSL的发病机制中起主要作用。其他基因,例如caspase募集域家族成员11（CARD11），肿瘤坏死因子α诱导蛋白3（TNFAIP3），转导素（β）样1X连接受体1，细胞周期蛋白依赖性激酶抑制剂2A，PR结构域锌指蛋白1和鼠恶性肿瘤1中的前病毒插入也经常突变。值得注意的是,免疫功能不全相关PCNSL的发病机制与EB病毒感染有关,其进展可能受到不同信号通路的影响。不同研究中的不同突变模式突出了PCNSL的异质性。然而,关于PCNSL分子遗传学的现有研究仍然有限，需要进一步研究PCNSL，以阐明PCNSL的遗传特征。
