Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.
Fiche publication
Date publication
août 2017
Journal
Langenbeck's archives of surgery
Auteurs
Membres identifiés du Cancéropôle Est :
Pr IMPERIALE Alessio
Tous les auteurs :
Maignan A, Guerin C, Julliard V, Paladino NC, Kim E, Roche P, Castinetti F, Essamet W, Mancini J, Imperiale A, Clifton-Bligh R, Romanet P, Barlier A, Pacak K, Sebag F, Taïeb D
Lien Pubmed
Résumé
Succinate dehydrogenase B (SDHB) associated pheochromocytomas (PHEOs) are associated with a higher risk of tumor aggressiveness and malignancy. The aim of the present study was to evaluate (1) the frequency of germline SDHB mutations in apparently sporadic patients with PHEO who undergo preoperative genetic testing and (2) the ability to predict pathogenic mutations.
Mots clés
Adrenal Gland Neoplasms, diagnostic imaging, Adrenalectomy, methods, Adult, Aged, Blotting, Western, DNA Mutational Analysis, Female, Fluorodeoxyglucose F18, Genetic Testing, Germ-Line Mutation, Humans, Immunohistochemistry, Laparoscopy, methods, Magnetic Resonance Spectroscopy, Male, Middle Aged, Pheochromocytoma, diagnostic imaging, Positron Emission Tomography Computed Tomography, Radiopharmaceuticals, Succinate Dehydrogenase, genetics
Référence
Langenbecks Arch Surg. 2017 Aug;402(5):787-798