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ea0063oc5.1 | Adrenal 1 | ECE2019

Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytoma

Buffet Alexandre , Aim Laurene Ben , Leboulleux Sophie , Drui Delphine , Vezzosi Delphine , Libe Rossella , Ajzenberg Christiane , Bernardeschi Daniele , Cariou Bertrand , Chabolle Frederic , Chabre Olivier , Darrouzet Vincent , Delemer Brigitte , Desailloud Rachel , Goichot Bernard , Esvant Annabelle , Offredo Lucile , Herman Philippe , Laboureau Sandrine , Lefebvre Herve , Pierre Peggy , Raingeard Isabelle , Reznik Yves , Sadoul Jean-Louis , Hadoux Julien , Tabarin Antoine , Tauveron Igor , Zenaty Delphine , Favier Judith , Bertherat Jerome , Baudin Eric , Amar Laurence , Gimenez-Roqueplo Anne-Paule

Context: Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumors, characterized by a strong genetic component. Indeed, up to 40% of patients carry a germline mutation in a PPGL susceptibility gene. In accordance with the international recommendations, genotyping of PPGL susceptibility genes is therefore proposed to all patients with PPGL, but it has actually never been shown whether the identification of a germline mutation in one PPGL susceptibility gene ch...

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Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytoma

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