Santisteban-Espejo Antonio, Bernal-Florindo Irene, Perez-Requena Jose, Atienza-Cuevas Lidia, Moran-Sanchez Julia, Fernandez-Valle María Del Carmen, Romero-Garcia Raquel, Garcia-Rojo Marcial
Department of Pathology, Puerta del Mar University Hospital, 11009 Cadiz, Spain.
Institute of Research and Innovation in Biomedical Sciences of the Province of Cadiz (INiBICA), 11009 Cadiz, Spain.
Diagnostics (Basel). 2022 Apr 12;12(4):963. doi: 10.3390/diagnostics12040963.
Classic Hodgkin lymphoma (cHL) constitutes a B cell-derived neoplasm defined by a scarce tumoral population, termed Hodgkin and Reed-Sternberg (HRS) cells, submerged into a histologically heterogeneous microenvironment. The paucity of HRS cells has historically hampered genetic studies, rendering the identification of the recurrent genetic lesions and molecular pathways deregulated in this lymphoma difficult. The advent of high-throughput sequencing methods such as next-generation sequencing (NGS) could sensibly optimize the identification of the mutational landscape of cHL. However, there is no current consensus either in the design of panels for targeted NGS or in its most relevant clinical applications. In this work, we systematically review the current state of NGS studies of cHL, stressing the need for standardization both in the candidate genes to be analyzed and the bioinformatic pipelines. As different institutions have developed and implemented their own customized NGS-based protocols, to compare and systematically review the major findings of this ongoing research area could be of added value for centers that routinely perform diagnostic, monitoring and genotyping strategies in cHL samples. The results of this systematic review should contribute to the interdepartmental harmonization and achievement of a consensus in the current clinical applications of NGS studies of cHL.
经典型霍奇金淋巴瘤(cHL)是一种源自B细胞的肿瘤,其特征是肿瘤细胞数量稀少,即霍奇金和里德-斯腾伯格(HRS)细胞,浸润于组织学上异质性的微环境中。HRS细胞数量稀少一直以来都阻碍着遗传学研究,使得鉴定该淋巴瘤中反复出现的基因病变和失调的分子途径变得困难。高通量测序方法(如下一代测序,NGS)的出现能够显著优化对cHL突变图谱的鉴定。然而,目前在靶向NGS的检测板设计及其最相关的临床应用方面尚无共识。在这项工作中,我们系统地回顾了cHL的NGS研究现状,强调在待分析的候选基因和生物信息学流程方面都需要标准化。由于不同机构已经开发并实施了各自定制的基于NGS的方案,对这个正在进行的研究领域的主要发现进行比较和系统回顾,对于常规对cHL样本进行诊断、监测和基因分型策略的中心而言可能具有附加价值。该系统回顾的结果应有助于部门间的协调一致,并在cHL的NGS研究当前临床应用中达成共识。