Neurogenetic tumor syndromes: The current landscape of workup and treatment
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.
Authors
- Jaishri Blakely
- Ashley Cannon (ORCID: https://orcid.org/0000-0002-2319-208X)
- Angela C. Hirbe (ORCID: https://orcid.org/0000-0003-1719-0771)
- Harish N. Vasudevan (ORCID: https://orcid.org/0000-0001-9633-1100)
- Prashant Chittiboina (ORCID: https://orcid.org/0000-0001-9349-4756)
- Rimas V. Lukas (ORCID: https://orcid.org/0000-0002-9352-5396)
Institutions
- Shirley Ryan AbilityLab (US)
- Johns Hopkins University (US)
- University of California, San Francisco (US)
- Washington University in St. Louis (US)
- University of Alabama at Birmingham (US)
- Neurological Surgery (US)
- National Institute of Mental Health (US)
Publication Details
- Journal
- Neuro-Oncology Practice
- Published
- 2025-08-22
- DOI
- https://doi.org/10.1093/nop/npaf089
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00