The genetics of paragangliomas - 27/11/12
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Summary |
Over 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.
Le texte complet de cet article est disponible en PDF.Keywords : Paraganglioma, Genetics, SDHD, SDHB, SDHC, VHL
Plan
Vol 129 - N° 6
P. 315-318 - décembre 2012 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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