1. Tumor Syndromes
- Author
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Aravinda Ganapathy, Kimberly A Mackey, Elizabeth Juarez Diaz, and Justin T Coleman
- Subjects
medicine.medical_specialty ,business.industry ,Central nervous system ,General Medicine ,Cowden syndrome ,Disease ,medicine.disease ,Bioinformatics ,Tuberous sclerosis ,medicine.anatomical_structure ,Li–Fraumeni syndrome ,medicine ,Surgery ,Neurology (clinical) ,Neurosurgery ,Neurofibromatosis ,Multiple endocrine neoplasia ,business - Abstract
There are multiple syndromes associated with tumors of the central nervous system (CNS). The most common CNS tumor syndrome is neurofibromatosis-1, with well-defined major and minor criteria needed for diagnosis. Other syndromes with variable degree of CNS and extra-CNS involvement that the neurosurgeon should be aware of include neurofibromatosis-2; Turcot syndrome; Cowden syndrome; Gorlin syndrome; Li-Fraumeni syndrome; ataxia-telangiectasia; multiple endocrine neoplasia type 1; von Hippel-Lindau syndrome; and tuberous sclerosis complex. Although most CNS tumor syndromes follow an autosomal dominant pattern of inheritance, the genetic underpinnings of each disease are complex and increasingly better understood.
- Published
- 2022