Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytoma - Université Paris Cité Accéder directement au contenu
Communication Dans Un Congrès Année : 2019

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

1 PARCC - UMR-S U970 - Paris-Centre de Recherche Cardiovasculaire
2 HEGP - Hôpital Européen Georges Pompidou [APHP]
3 Médecine nucléaire
4 Service d'Endocrinologie [Nantes]
5 Service Endocrinologie, maladies métaboliques et nutrition [CHU Toulouse]
6 Hôpital Cochin [AP-HP]
7 Hôpital Henri Mondor
8 CISIC - Centre d'Information sur la Surdité et l'Implant Cochléaire [Paris]
9 ITX - ITX - unité de recherche de l'institut du thorax
10 Service d'oto-rhino-laryngologie
11 Service d'endocrinologie
12 CHU de Bordeaux Pellegrin [Bordeaux]
13 Service d'Endocrinologie - Diabète - Nutrition [Reims]
14 AMIENS - Endocrino - Service d'Endocrinologie
15 Service de Médecine Interne, Endocrinologie et Nutrition [CHU Strasbourg]
16 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
17 Biostatistique, Pharmacoépidémiologie et Mesures Subjectives en Santé
18 Hôpital Lariboisière
19 DC2N - Différenciation et communication neuronale et neuroendocrine
20 Service d'Endocrinologie, Diabétologie et Maladies Métaboliques [CHU Rouen]
21 TOURS - Endocrino - Service d'Endocrinologie
22 Service d'endocrinologie
23 Service Endocrinologie - Diabétologie [CHU Caen]
24 NICE - Endocrino - Service d'Endocrinologie
25 UPD5 Médecine - Université Paris Descartes - Faculté de Médecine
26 BORDEAUX - Endocrino - Service d'Endocrinologie
27 GReD - Génétique, Reproduction et Développement
28 Service de pédiatrie générale
29 IGR - Institut Gustave Roussy
Sophie Leboulleux
Rachel Desailloud
Sandrine Laboureau
  • Fonction : Auteur
Éric Baudin
  • Fonction : Auteur
  • PersonId : 957572
Laurence Amar

Résumé

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
Fichier non déposé

Dates et versions

hal-02470291 , version 1 (07-02-2020)

Identifiants

Citer

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⟩
113 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More