Open AccessImplications of SDHB genetic testing in patients with sporadic pheochromocytoma
Author(s) -
Aurélie Maignan,
Carole Guérin,
Valentin Julliard,
Nunzia Cinzia Paladino,
Edward Kim,
Philippe Roché,
Frédéric Castinetti,
Wassim Essamet,
Julien Mancini,
Alessio Impériale,
Roderick CliftonBligh,
Pauline Romanet,
Anne Barlier,
Karel Pacák,
F. Sébag,
David Taïeb
Publication year - 2017
Publication title -
langenbeck's archives of surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.235
H-Index - 80
eISSN - 1435-2451
pISSN - 1435-2443
DOI - 10.1007/s00423-017-1564-y
Subject(s) - sdhb , pheochromocytoma , germline mutation , pathology , medicine , paraganglioma , context (archaeology) , genetic testing , germline , cancer research , mutation , biology , genetics , gene , paleontology
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.