Agarwal Amit, Bathla Girish, Soni Neetu, Desai Amit, Ajmera Pranav, Rao Dinesh, Gupta Vivek, Vibhute Prasanna
From the Department of Radiology (A.A., G.B., N.S., P.A.), Mayo Clinic, Jacksonville, Florida
From the Department of Radiology (A.A., G.B., N.S., P.A.), Mayo Clinic, Jacksonville, Florida.
AJNR Am J Neuroradiol. 2024 Feb 7;45(2):128-138. doi: 10.3174/ajnr.A8039.
The nervous system is commonly involved in a wide range of genetic tumor-predisposition syndromes. The classification of genetic tumor syndromes has evolved during the past years; however, it has now become clear that these syndromes can be categorized into a relatively small number of major mechanisms, which form the basis of the new 5th edition of the World Health Organization book (beta online version) on genetic tumor syndromes. For the first time, the World Health Organization has also included a separate chapter on genetic tumor syndromes in the latest edition of all the multisystem tumor series, including the 5th edition of CNS tumors. Our understanding of these syndromes has evolved rapidly since the previous edition (4th edition, 2016) with recognition of 8 new syndromes, including the following: Elongator protein complex-medulloblastoma syndrome, -associated protein 1 tumor-predisposition syndrome, syndrome, familial paraganglioma syndrome, melanoma-astrocytoma syndrome, Carney complex, Fanconi anemia, and familial retinoblastoma. This review provides a description of these new CNS tumor syndromes with a focus on imaging and genetic characteristics.
神经系统通常会累及多种遗传性肿瘤易感性综合征。在过去几年中，遗传性肿瘤综合征的分类不断演变；然而，现在已经明确，这些综合征可归类为相对较少的几种主要机制，这构成了世界卫生组织关于遗传性肿瘤综合征的新书（在线试用版第5版）的基础。世界卫生组织还首次在包括中枢神经系统肿瘤第5版在内的所有多系统肿瘤系列的最新版本中，单独设立了一章关于遗传性肿瘤综合征的内容。自上一版（2016年第4版）以来，随着8种新综合征的发现，我们对这些综合征的认识迅速发展，包括以下几种：延伸因子蛋白复合物 - 髓母细胞瘤综合征、相关蛋白1肿瘤易感性综合征、家族性副神经节瘤综合征、黑色素瘤 - 星形细胞瘤综合征、卡尼综合征、范可尼贫血和家族性视网膜母细胞瘤。本综述重点介绍这些新的中枢神经系统肿瘤综合征的影像学和遗传学特征。
