Gerhard-Hartmann Elena, Rosenwald Andreas
Institut für Pathologie, Universität Würzburg, Josef-Schneider-Straße 2, 97080, Würzburg, Deutschland.
Comprehensive Cancer Center Mainfranken, Universität Würzburg, Würzburg, Deutschland.
Pathologe. 2020 Nov;41(6):574-581. doi: 10.1007/s00292-020-00816-6.
The introduction of new lymphoma entities that are defined by chromosomal rearrangements has led to changes concerning the diagnostic algorithms in routine hematopathology, particularly for the large group of aggressive B‑cell lymphomas. The new, genetically defined entity high-grade B‑cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements (double/triple hit lymphoma) is morphologically heterogenous and comprises lymphomas with the morphology of a diffuse large B‑cell lymphoma (DLBCL), but also cases with blastoid appearance as well as intermediate/Burkitt-like morphology. This implies a cytogenetic analysis for the final classification of aggressive lymphomas with DLBCL morphology, which constitute the most common lymphomas in daily practice. This analysis is currently most efficiently performed via a sequential fluorescence in situ hybridization (FISH) approach, with an initial MYC-FISH, that is followed (if required, i.e., if a MYC rearrangement is detected) by an analysis regarding a BCL2- and BCL6-chromosomal rearrangement. In addition, the update of the fourth edition of the WHO classification for hematopoietic neoplasms introduced additional lymphoma subgroups that are defined by chromosomal rearrangements, such as Burkitt-like lymphoma with 11q aberration as well as large B cell lymphoma with IRF4 rearrangement. Therefore, FISH currently plays an important role in the diagnostic armamentarium in routine diagnostic hematopathology.
由染色体重排定义的新淋巴瘤实体的引入,导致了常规血液病理学诊断算法的改变,尤其是对于一大类侵袭性B细胞淋巴瘤而言。新的、由基因定义的实体——伴有MYC和BCL2及/或BCL6重排的高级别B细胞淋巴瘤(双打击/三打击淋巴瘤),在形态学上具有异质性,包括具有弥漫性大B细胞淋巴瘤(DLBCL)形态的淋巴瘤,也包括具有母细胞样外观以及中间型/伯基特样形态的病例。这意味着对于具有DLBCL形态的侵袭性淋巴瘤进行最终分类需要进行细胞遗传学分析,而DLBCL形态的淋巴瘤是日常实践中最常见的淋巴瘤。目前,这种分析最有效地通过序贯荧光原位杂交(FISH)方法进行,首先进行MYC-FISH,如果检测到MYC重排(即需要时),随后进行关于BCL2和BCL6染色体重排的分析。此外,世界卫生组织造血肿瘤分类第四版的更新引入了其他由染色体重排定义的淋巴瘤亚组,如伴有11q异常的伯基特样淋巴瘤以及伴有IRF4重排的大B细胞淋巴瘤。因此,FISH目前在常规诊断血液病理学的诊断手段中发挥着重要作用。