新的淋巴瘤分类（成熟淋巴细胞肿瘤国际共识分类和世界卫生组织第五版淋巴细胞肿瘤分类）将遗传学作为淋巴瘤诊断的重要组成部分，提高了淋巴瘤亚型划分、患者风险分层和治疗反应预测的准确性。淋巴瘤特征是很少有复发和疾病特异性突变，大多数淋巴瘤存在着多种多样的基因变异，有一长尾效应的复发性突变基因。大部分这些突变发生的频率较低，反映了淋巴瘤的临床异质性。多项研究已经发现了改善诊断和预后的遗传标志物，而下一代测序正在临床实验室中成为一种必不可少的工具。本综述提供了淋巴瘤的“下一代测序”指南。它讨论了具有诊断、预后和预测潜力的最常见成熟淋巴瘤实体的遗传改变，并提出了用于检测B细胞和NK/T细胞淋巴瘤的突变和拷贝数改变的靶向测序面板。© 2023. 作者。

The new lymphoma classifications (International Consensus Classification of Mature Lymphoid Neoplasms, and 5th World Health Organization Classification of Lymphoid Neoplasms) include genetics as an integral part of lymphoma diagnosis, allowing better lymphoma subclassification, patient risk stratification, and prediction of treatment response. Lymphomas are characterized by very few recurrent and disease-specific mutations, and most entities have a heterogenous genetic landscape with a long tail of recurrently mutated genes. Most of these occur at low frequencies, reflecting the clinical heterogeneity of lymphomas. Multiple studies have identified genetic markers that improve diagnostics and prognostication, and next-generation sequencing is becoming an essential tool in the clinical laboratory. This review provides a "next-generation sequencing" guide for lymphomas. It discusses the genetic alterations of the most frequent mature lymphoma entities with diagnostic, prognostic, and predictive potential and proposes targeted sequencing panels to detect mutations and copy-number alterations for B- and NK/T-cell lymphomas.© 2023. The Author(s).