The genetics of paragangliomas
| Autor: | Judith Favier, Anne-Paule Gimenez-Roqueplo, N. Burnichon, Alexandre Buffet, N. Abermil |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Oncology
medicine.medical_specialty Pathology SDHB Malignancy Paraganglioma Germline mutation Internal medicine VHL medicine Genetics Humans Genetic testing Hereditary Paraganglioma medicine.diagnostic_test business.industry medicine.disease SDHC SDHD Otorhinolaryngology Head and Neck Neoplasms Mutation (genetic algorithm) Surgery business |
| Zdroj: | European Annals of Otorhinolaryngology, Head and Neck Diseases. 129(6):315-318 |
| ISSN: | 1879-7296 |
| DOI: | 10.1016/j.anorl.2012.04.007 |
| Popis: | SummaryOver the last decade, it has been clearly established that one-third of all paragangliomas are genetically determined. Genetic testing, guided by the family history and clinical findings, must now be proposed to all subjects undergoing surgery for head and neck paraganglioma. When a mutation is identified on one of the susceptibility genes (SDHD, SDHB, SDHC, SDHAF2, VHL), at-risk subjects should be investigated for the presence of other supra- and infradiaphragmatic paragangliomas and functional catecholamine-secreting paragangliomas and/or phaeochromocytomas. Identification of a germline mutation on the SDHB gene is a high-risk factor for malignancy and poor prognosis and requires close surveillance of subjects carrying this mutation. The diagnosis of hereditary paraganglioma also allows predictive genetic screening in first-degree relatives of the index subject. Genetic testing for paraganglioma is therefore now an important component of the diagnostic and therapeutic management of these patients. |
| Databáze: | OpenAIRE |
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