Article: Brain and/or Spinal Cord Tumors Accompanied with Other Diseases or Syndromes.
Advances in experimental medicine and biology
2023 Volume 1405, Page(s) 645–672
Abstract: Several medical conditions that interest both the brain and the spinal cord have been described throughout the history of medicine. Formerly grouped under the term Phacomatosis because lesions of the eye were frequently encountered or genodermatosis when ...
| Abstract | Several medical conditions that interest both the brain and the spinal cord have been described throughout the history of medicine. Formerly grouped under the term Phacomatosis because lesions of the eye were frequently encountered or genodermatosis when typical skin lesions were present, these terms have been progressively discarded. Although originally reported centuries ago, they still represent a challenge for their complexity of cure. Nowadays, with the introduction of advanced genetics and the consequent opportunity of whole-genome sequencing, new single cancer susceptibility genes have been identified or better characterized; although there is evidence that the predisposition to a few specific tumor syndromes should be accounted to a group of mutations in different genes while certain syndromes appeared to be manifestations of different mutations in the same gene adding supplementary problems in their characterization and establishing the diagnosis. Noteworthy, many syndromes have been genetically determined and well-characterized, accordingly in the near future, we expect that new targeted therapies will be available for the definitive cure of these syndromes and other gliomas (Pour-Rashidi et al. in World Neurosurgery, 2021). The most common CNS syndromes that will be discussed in this chapter include neurofibromatosis (NF) types 1 and 2, von Hippel-Lindau (VHL) disease, and tuberous sclerosis complex (TSC), as well as syndromes having mostly extra-neural manifestations such as Cowden, Li-Fraumeni, Turcot, and Gorlin syndromes. |
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| MeSH term(s) | Humans ; von Hippel-Lindau Disease ; Brain Neoplasms/pathology ; Tuberous Sclerosis ; Neurofibromatosis 1 ; Brain/pathology ; Spinal Cord Neoplasms/genetics |
| Language | English |
| Publishing date | 2023-07-15 |
| Publishing country | United States |
| Document type | Journal Article |
| ZDB-ID | 410187-X |
| ISSN | 0065-2598 |
| ISSN | 0065-2598 |
| DOI | 10.1007/978-3-031-23705-8_25 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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