在过去的几年中,具有种系易感性的血液肿瘤越来越被认为是一种独特的肿瘤。因此,该类别已添加到世界卫生组织(WHO)第4版,并保留在WHO第5版和国际共识分类(ICC)2022分类系统中。在实践中,这些肿瘤需要高度怀疑和通过分子检测确认。流式细胞术是一种经济有效的诊断工具,通常对外周血和骨髓样本进行。在这次审查中,我们试图总结目前与流式细胞术免疫表型相关的研究,以评估其在生殖系血液肿瘤诊断和临床决策中的效用。我们还使用主要来自我们自己机构的案例来说明这些发现。我们回顾了一些更常见的突变基因,包括CEBPA,DDX41,RUNX1,ANKRD26,GATA2,范可尼贫血,努南综合征,和唐氏综合症。我们强调,流式细胞术可能在某些种系易感性综合征的诊断(GATA2,唐氏综合征)和筛查(CEBPA)中发挥作用。尽管在其他方面似乎显示出非特异性发现(DDX41,RUNX1)。在其他许多人中,如ANKRD26,范可尼贫血,和努南综合征,需要进一步的研究来更好地了解是否观察到特定的流式细胞术模式.最终,我们得出的结论是,在大多数种系设置中,需要进一步的研究,例如大型病例系列和有组织的数据管道,以更好地了解这些肿瘤的流式细胞术免疫表型.
Hematologic neoplasms with germline predisposition have been increasingly recognized as a distinct category of tumors over the last few years. As such, this category was added to the World Health Organization (WHO) 4th edition as well as maintained in the WHO 5th edition and International Consensus Classification (ICC) 2022 classification systems. In practice, these tumors require a high index of suspicion and confirmation by molecular testing. Flow cytometry is a cost-effective diagnostic tool that is routinely performed on peripheral blood and bone marrow samples. In this review, we sought to summarize the current body of research correlating flow cytometric immunophenotype to assess its utility in diagnosis of and clinical decision making in germline hematologic neoplasms. We also illustrate these findings using cases mostly from our own institution. We review some of the more commonly mutated genes, including CEBPA, DDX41, RUNX1, ANKRD26, GATA2, Fanconi anemia, Noonan syndrome, and Down syndrome. We highlight that flow cytometry may have a role in the diagnosis (GATA2, Down syndrome) and screening (CEBPA) of some germline predisposition syndromes, although appears to show nonspecific findings in others (DDX41, RUNX1). In many of the others, such as ANKRD26, Fanconi anemia, and Noonan syndrome, further studies are needed to better understand whether specific flow cytometric patterns are observed. Ultimately, we conclude that further studies such as large case series and organized data pipelines are needed in most germline settings to better understand the flow cytometric immunophenotype of these neoplasms.