For the routine diagnosis of haematological neoplasms an integrative approach is used considering the morphology, and the immunophenotypic, and molecular features of the tumor sample, along with clinical information. The identification and characterization of recurrent chromosomal aberrations mainly detected by conventional and molecular cytogenetics in the tumor cells has a major impact on the classification of lymphoid neoplasms. Some of the B-cell non-Hodgkin lymphomas are characterized by particular chromosomal aberrations, highlighting the relevance of conventional and molecular cytogenetic studies in their diagnosis and prognosis. In the current genomics era, next generation sequencing provides relevant information as the mutational profiles of haematological malignancies, improving their classification and also the clinical management of the patients. In addition, other new technologies have emerged recently, such as the optical genome mapping, which can overcome some of the limitations of conventional and molecular cytogenetics and may become more widely used in the cytogenetic laboratories in the upcoming years. Moreover, epigenetic alterations may complement genetic changes for a deeper understanding of the pathogenesis underlying B-cell neoplasms and a more precise risk-based patient stratification. Overall, here we describe the current state of the genomic data integrating chromosomal rearrangements, copy number alterations, and somatic variants, as well as a succinct overview of epigenomic changes, which altogether constitute a comprehensive diagnostic approach in B-cell non-Hodgkin lymphomas.

对于血液肿瘤的常规诊断，采用综合方法，考虑肿瘤样本的形态、免疫表型和分子特征以及临床信息。主要通过常规和分子细胞遗传学检测的肿瘤细胞中复发性染色体畸变的识别和表征对淋巴肿瘤的分类具有重大影响。一些 B 细胞非霍奇金淋巴瘤以特定的染色体畸变为特征，突出了传统和分子细胞遗传学研究在其诊断和预后中的相关性。在当前的基因组学时代，下一代测序提供了血液恶性肿瘤突变谱等相关信息，改善了其分类以及患者的临床管理。此外，最近还出现了其他新技术，例如光学基因组作图，它可以克服传统和分子细胞遗传学的一些局限性，并可能在未来几年在细胞遗传学实验室中得到更广泛的应用。此外，表观遗传改变可以补充遗传变化，以便更深入地了解 B 细胞肿瘤的发病机制和更精确的基于风险的患者分层。总的来说，我们在这里描述了整合染色体重排、拷贝数改变和体细胞变异的基因组数据的现状，以及表观基因组变化的简洁概述，这些共同构成了 B 细胞非霍奇金淋巴瘤的综合诊断方法。