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Neurogenetic tumor syndromes: The current landscape of workup and treatment

Year: 2025
Type: article
Abstract: Experts and generalists from numerous clinical disciplines are likely to encounter and be involved in the care of patients with neurogenetic tumor syndromes. Considerations for genetic testing are discussed. Specific conditions including neurofibromatosis type 1, neurofibromatosis type 2-related schwannomatosis, von Hippel-Lindau disease, tuberous sclerosis, Lynch syndrome, Turcot syndrome, Li-Fraumeni syndrome, and others are reviewed. A variety of targeted therapies which have received regulatory approval for these disorders are described and promising future directions for therapeutics are highlighted.
DOI: 10.1093/nop/npaf089
Authors: Rimas V Lukas, Ashley Cannon, Prashant Chittiboina, Harish N Vasudevan, Jaishri O Blakeley, Angela C Hirbe
Institutions: Northwestern University, Johns Hopkins University, University of California, San Francisco, University of Alabama at Birmingham, UAB Medicine, National Institutes of Health, Washington University in St. Louis
Language: English
Subfield: Neurology
Field: Medicine
Open Access status: green
OpenAlex ID: W4413808469
FWCI:
Cites: 43
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Related to: 10