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

Alexandre Buffet 1 Laurene Ben Aim 2 Sophie Leboulleux 3 Delphine Drui 4 Delphine Vezzosi 5 Rossella Libé 6 Christiane Ajzenberg 7 Daniele Bernardeschi 8 Bertrand Cariou 9 Frédéric Chabolle 10 Olivier Chabre 11 Vincent Darrouzet 12 Brigitte Delemer 13 Rachel Desailloud 14 Bernard Goichot 15 Annabelle Esvant 16 Lucile Offredo 17 Philippe Herman 18 Sandrine Laboureau Hervé Lefebvre 19, 20 Peggy Pierre 21 Isabelle Raingeard 22 Yves Reznik 23 Jean-Louis Sadoul 24 Julien Hadoux 25 Antoine Tabarin 26 Igor Tauveron 27 Delphine Zenaty 28 Judith Favier 1 Jérôme Bertherat 6 Éric Baudin 29 Laurence Amar 1 Anne-Paule Gimenez-Roqueplo 1
Abstract : OC5.1 Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytoma 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 changes the outcome of mutation-carriers. Objective Our objective was to evaluate how a positive genetic test impacts the management and outcome of propositus patients with PPGL carrying a germline mutation in one of the four major PPGL susceptibility genes (SDHB, SDHD, SDHC and VHL). Design We performed a multicentric retrospective study on 221 propositus carrying a SDHB, SDHD, SDHC or VHL germline mutation and followed in 24 French clinical centers of the Group of Endocrine Tumors and/or the COMETE network. Patients were divided into two groups: Genetic patients, who were informed of their genetic status within the year following the first PPGL diagnosis, and Historic patients who only benefited from the genetic test several years after initial PPGL diagnosis. Results Compared to Historic patients, Genetic patients had a better follow-up, with a higher number of examinations and a reduced number of patients lost to follow-up (9.6% versus 72%). During follow-up, smaller (18.7 mm versus 27.6, PZ0.0128) new PPGL and metastases as well as lower metastatic spread were observed in Genetic patients. Importantly, these differences were reversed in the Historic cohort after genetic testing. Genetic patients who developed metachronous metastases had a better 5-year survival than Historic ones (PZ0.0127). Conclusion Altogether our study clearly shows the positive impact of the identification of an SDHx or VHL mutation in the management, clinical outcome and survival of patients with PPGL. It reveals, for the first time, the clinical benefits of the practice of oncogenetics for patients with a rare cancer and strongly strengthens the recommendations of the Endocrine Society to consider PPGL genetic testing in all patients affected by PPGL. DOI: 10.1530/endoabs.63.OC5.1
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Submitted on : Friday, February 7, 2020 - 10:58:19 AM
Last modification on : Friday, December 3, 2021 - 12:13:17 PM



Alexandre Buffet, Laurene Ben Aim, Sophie Leboulleux, Delphine Drui, Delphine Vezzosi, et al.. Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytoma. 21st European Congress of Endocrinology, May 2019, Lyon, France. pp.OC5.1, ⟨10.1530/endoabs.63.OC5.1⟩. ⟨hal-02470291⟩



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