Newly Recognized Genetic Tumor Syndromes of the CNS in the 5th WHO Classification: Imaging Overview with Genetic Updates.

Abstract

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, BRCA1-associated protein 1 tumor-predisposition syndrome, DICER1 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.

• Authors: Amit Agarwal, Girish Bathla, Neetu Soni, Amit Desai, Pranav Ajmera, Dinesh Rao, Vivek Gupta, Prasanna Vibhute
• Journal: AJNR. American journal of neuroradiology (AJNR Am J Neuroradiol) (Nov 09 2023) ISSN: 1936-959X [Electronic] United States
• PMID: 37945522 (Publication Type: Journal Article, Review)
• Copyright: © 2024 by American Journal of Neuroradiology.