Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

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

https://www.ncbi.nlm.nih.gov/pubmed/28229225

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