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Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

Auteurs

Maignan A, Guerin C, Julliard V, Paladino NC, Kim E, Roche P, Castinetti F, Essamet W, Imperiale A, Clifton-Bligh R, Romanet P, Barlier A, Pacak K, Sebag F, Taïeb D

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.

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