Neurooncology of familial cancer syndromes Journal Article
| Authors: | Hottinger, A. F.; Khakoo, Y. |
| Article Title: | Neurooncology of familial cancer syndromes |
| Abstract: | The majority of tumors of the nervous system are sporadic. However, a subset of patients with tumors and their families are predisposed to developing cancers of the central nervous system and other organs because of a germline mutation. In the last decade, many of the genes responsible for these typically autosomal dominant familial tumor syndromes have been identified. Additionally, our understanding of the mechanisms of carcinogenesis in these syndromes has increased, allowing for more targeted therapies for these patients as well as those with sporadic cancers. Because these patients present a unique set of issues regarding diagnosis and neurooncological management, the most common familial cancer syndromes involving the nervous system are reviewed: Neurofibromatosis type 1 and 2; tuberous sclerosis complex; von Hippel Lindau, Li-Fraumeni, Gorlin, and Turcot syndrome. |
| Keywords: | frameshift mutation; gene deletion; clinical trial; review; bevacizumab; sunitinib; nonhuman; solid tumor; temozolomide; nuclear magnetic resonance imaging; glioma; neurofibromatosis; genetic predisposition to disease; carboplatin; vincristine; protein p53; lomustine; procarbazine; central nervous system tumor; irinotecan; glioblastoma; hamartin; medulloblastoma; phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase; tipifarnib; neurofibromin; ependymoma; familial cancer; li-fraumeni syndrome; cognitive defect; meningioma; cyclopamine; behavior disorder; von hippel lindau disease; von hippel-lindau disease; astrocytoma; protein mlh1; neuroectoderm tumor; neurofibroma; familial cancer syndromes; neurooncology; apc protein; merlin; mismatch repair protein pms2; pirfenidone; protein patched 1; von hippel lindau protein; acoustic neurinoma; autosomal dominant disorder; basal cell nevus syndrome; cafe au lait spot; choroid plexus tumor; chromosome 17; cowden syndrome; hemangioblastoma; lhermitte duclos disease; nonsense mutation; tuberous sclerosis; turcot syndrome; germ-line mutation; inheritance patterns; neoplasms, nerve tissue; neurofibromatoses |
| Journal Title: | Journal of Child Neurology |
| Volume: | 24 |
| Issue: | 12 |
| ISSN: | 0883-0738 |
| Publisher: | Sage Publications, Inc. |
| Date Published: | 2009-12-01 |
| Start Page: | 1526 |
| End Page: | 1535 |
| Language: | English |
| DOI: | 10.1177/0883073809337539 |
| PUBMED: | 19955345 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Export Date: 30 November 2010" - "CODEN: JOCNE" - "Source: Scopus" |
