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Semin Neurol 2024; 44(01): 016-025
DOI: 10.1055/s-0043-1777702
Review Article

Cancer Predisposition Syndromes in Neuro-oncology

Brian Na 
1   Department of Neurology, UCLA David Geffen School of Medicine, Los Angeles, California
,
Shilp Shah
2   Department of Bioengineering, UCLA Samueli School of Engineering, Los Angeles, California
,
Phioanh Leia Nghiemphu
1   Department of Neurology, UCLA David Geffen School of Medicine, Los Angeles, California
› Author Affiliations Funding This work was supported by the Tower Cancer Research Foundation Career Development Award (B.N.) and the Matthew Larson Foundation for Pediatric Brain Tumors Research Grant (B.N.).
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Abstract

Although most primary central and peripheral nervous system (NS) tumors occur sporadically, there are a subset that may arise in the context of a cancer predisposition syndrome. These syndromes occur due to a pathogenic mutation in a gene that normally functions as a tumor suppressor. With increased understanding of the molecular pathogenesis of these tumors, more people have been identified with a cancer predisposition syndrome. Identification is crucial, as this informs surveillance, diagnosis, and treatment options. Moreover, relatives can also be identified through genetic testing. Although there are many cancer predisposition syndromes that increase the risk of NS tumors, in this review, we focus on three of the most common cancer predisposition syndromes, neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis complex type 1 and type 2, emphasizing the clinical manifestations, surveillance guidelines, and treatment options.

Keywords

neurofibromatosis type 1 - neurofibromatosis type 2 - schwannomatosis - tuberous sclerosis


Publication History

Article published online:
14 December 2023

© 2023. Thieme. All rights reserved.

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