Diffuse large B-cell lymphoma (DLBCL), the most common type of Non-Hodgkin lymphoma (NHL), is a highly heterogeneous and aggressive disease. Regardless of this heterogeneity, all patients receive the same first-line therapy, which fails in 30–40 % of patients, who are either refractory or relapse after remission. With the aim of stratifying patients to improve treatment outcome, different clinical and genetic biomarkers have been studied. The present systematic review aimed to identify somatic mutations that could serve as prognosis biomarkers or as therapeutic target mutations in DLBCL. Regarding their role as prognostic markers, mutations in CD58 and TP53 seem the most promising predictors of poor outcome although the combination of different alterations and other prognostic factors could be a more powerful strategy. On the other hand, different approaches regarding targeted therapy have been proposed. Therefore, mutational analysis could help guide treatment choice in DLBCL yet further studies and clinical trials are needed.

弥漫性大 B 细胞淋巴瘤 (DLBCL) 是最常见的非霍奇金淋巴瘤 (NHL)，是一种高度异质性和侵袭性的疾病。不管这种异质性如何，所有患者都接受相同的一线治疗，30-40% 的患者治疗失败，这些患者要么难治，要么在缓解后复发。为了对患者进行分层以改善治疗结果，已经研究了不同的临床和遗传生物标志物。本系统评价旨在鉴定可作为 DLBCL 预后生物标志物或治疗靶点突变的体细胞突变。关于它们作为预后标志物的作用，CD58和TP53 突变尽管不同的改变和其他预后因素的组合可能是一个更强大的策略，但似乎是最有希望的预后不良预测因素。另一方面，已经提出了关于靶向治疗的不同方法。因此，突变分析可以帮助指导 DLBCL 的治疗选择，但还需要进一步的研究和临床试验。