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Journal articles
Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma
Alexandre Buffet
1
Laurène Ben Aim
2
Sophie Leboulleux
3
Delphine Drui
4
Delphine Vezzosi
5
Rossella Libé
6
Christiane Ajzenberg
7
Daniele Bernardeschi
8
Bertrand Cariou
4
Frédéric Chabolle
9
Olivier Chabre
10
Vincent Darrouzet
11
Brigitte Delemer
12
Rachel Desailloud
13
Bernard Goichot
14
Annabelle Esvant
15
Lucile Offredo
1
Philippe Herman
16
Sandrine Laboureau
17
Hervé Lefebvre
18, 19
Peggy Pierre
20
Isabelle Raingeard
21
Yves Reznik
22
Jean-Louis Sadoul
23
Julien Hadoux
24
Antoine Tabarin
25
Igor Tauveron
26
Delphine Zenaty
27
Judith Favier
1
Jérôme Bertherat
6
Eric Baudin
24
Laurence Amar
28, 2
Anne-Paule Gimenez-Roqueplo
1, 2, 28
Alexandre Buffet 1
Author
Laurène Ben Aim 2
Author
Sophie Leboulleux 3
Author
Delphine Drui 4
Author
Delphine Vezzosi 5
Author
Rossella Libé 6
Author
Christiane Ajzenberg 7
Author
Daniele Bernardeschi 8
Author
Bertrand Cariou 4
Author
Frédéric Chabolle 9
Author
Olivier Chabre 10
Author
Vincent Darrouzet 11
Author
Brigitte Delemer 12
Author
Rachel Desailloud 13
Author
Bernard Goichot 14
Author
Annabelle Esvant 15
Author
Lucile Offredo 1
Author
Philippe Herman 16
Author
Sandrine Laboureau 17
Author
Hervé Lefebvre 18, 19
Author IdHAL : herve-lefebvre
Peggy Pierre 20
Author
Isabelle Raingeard 21
Author
Yves Reznik 22
Author
Jean-Louis Sadoul 23
Author
Anne-Paule Gimenez-Roqueplo 1, 2, 28
Author
1
PARCC - UMR-S U970 - Paris-Centre de Recherche Cardiovasculaire (56 rue Leblanc
75015 PARIS
FRANCE - France)
- HEGP - Hôpital Européen Georges Pompidou [APHP] : U970 (20, rue Leblanc, 75015 Paris - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U970 (101, rue de Tolbiac, 75013 Paris - France)
- UP - Université de Paris : UMR_S 970 (85 boulevard Saint-Germain 75006 Paris - France)
2
HEGP - Hôpital Européen Georges Pompidou [APHP] (20, rue Leblanc, 75015 Paris - France)
3
Médecine nucléaire (Villejuif - France)
- Département d'imagerie médicale [Gustave Roussy] (France)
- IGR - Institut Gustave Roussy (114, rue Édouard-Vaillant 94805 Villejuif Cedex -France - France)
4
CHU Nantes - Centre hospitalier universitaire de Nantes (1 Place Alexis-Ricordeau, 44000 Nantes - France)
5
CHU Toulouse [Toulouse] (Hôtel-Dieu Saint Jacques
2, rue Viguerie
TSA 80035
31059 Toulouse cedex 9 - France)
6
Hôpital Cochin [AP-HP] (27 Rue du Faubourg Saint-Jacques 75014 Paris - France)
7
Hôpital Henri Mondor (France)
8
CHU Pitié-Salpêtrière [AP-HP] (47-83 Boulevard de l'Hôpital, 75013 Paris - France)
- Sorbonne Université (France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
9
Hôpital Foch [Suresnes] (40 Rue Worth 92150 Suresnes - France)
10
CHU - Centre Hospitalier Universitaire [Grenoble] (CS 10217
38043 Grenoble cedex 9 - France)
11
CHU de Bordeaux Pellegrin [Bordeaux] (Place Amélie Raba-Léon, 33000 Bordeaux - France)
12
CHU Reims - Centre Hospitalier Universitaire de Reims (45, rue Cognacq-Jay 51100 Reims - France)
13
CHU Amiens-Picardie (France)
14
Les Hôpitaux Universitaires de Strasbourg (HUS) (France)
15
CHU Pontchaillou [Rennes] (2 Rue Henri le Guilloux, 35000 Rennes - France)
16
Hôpital Lariboisière-Fernand-Widal [APHP] (2, rue Ambroise - Paré 75475 - France)
17
CHU Angers - Centre Hospitalier Universitaire d'Angers (4 rue Larrey - 49933 Angers cedex 9 - France)
18
DC2N - Différenciation et communication neuronale et neuroendocrine (Place Emile Blondel Faculté des Sciences et Techniques 76821 Mont-Saint-Aignan Cedex - France)
- UNIROUEN - Université de Rouen Normandie : U1239 (1, rue Thomas Becket 76821 Mont-Saint-Aignan Cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1239 (101, rue de Tolbiac, 75013 Paris - France)
19
CHU Rouen (1, rue de Germont 76031 Rouen cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
20
CHU Trousseau [Tours] (CHU Trousseau, Unité de Médecine et Physiologie Spatiale, F-37044 Tours - France)
21
CHU - Hôpital Lapeyronie [Montpellier] (371, avenue du Doyen Gaston Giraud 34295 MONTPELLIER cedex 5 - France)
22
CHU Caen (Avenue de la Côte de Nacre 14000 Caen - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
- TCBN - Tumorothèque de Caen Basse-Normandie (3 avenue du Général Harris 14076 Caen cedex 5 - France)
23
CHU - Hôpital Archet 2 [Nice] (CS 23079
06202 Nice cedex 3 - France)
24
Université Paris-Saclay (Espace Technologique, Bat. Discovery - RD 128 - 2e ét., 91190 Saint-Aubin - France)
25
CHU Bordeaux [Bordeaux] (place Amélie Raba Léon
33076 BORDEAUX CEDEX - France)
26
CHU Clermont-Ferrand (France)
27
AP-HP Hôpital universitaire Robert-Debré [Paris] ( 48, boulevard Sérurier – 75019 Paris - France)
28
UP UFR Pharmacie - Université de Paris - UFR Pharmacie [Santé] (4, avenue de l'Observatoire - 75270 Paris Cedex 06 - France)
- UP - Université de Paris (85 boulevard Saint-Germain 75006 Paris - France)
Abstract : Context : Pheochromocytomas and paragangliomas (PPGLs) are characterized by a strong genetic component, with up to 40% of patients carrying a germline mutation in a PPGL susceptibility gene. International guidelines recommend that genetic screening be proposed to all patients with PPGL.
Objective : Our objective was to evaluate how a positive genetic test impacts the management and outcome of patients with SDHx or VHL-related PPGL.
Design : We performed a multicentric retrospective study involving 221 propositi carrying an SDHB, SDHD, SDHC, or VHL germline mutation. 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 : Genetic patients had better follow-up than historic patients, with a greater number of examinations and a reduced number of patients lost to follow-up (9.6% vs 72%, respectively). During follow-up, smaller (18.7 vs 27.6 mm; P = 0.0128) new PPGLs and metastases as well as lower metastatic spread were observed in genetic patients. Of note, these differences were reversed in the historic cohort after genetic testing. Genetic patients who developed metachronous metastases had a better 5-year survival rate than historic patients (P = 0.0127).
Conclusion : Altogether, our data suggest that early knowledge of genetic status had a positive impact on the management and clinical outcome of patients with a germline SDHx or VHL mutation.
Document type :
Journal articles
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https://hal-normandie-univ.archives-ouvertes.fr/hal-02419895
Contributor : Céline Duparc <>
Submitted on : Thursday, December 19, 2019 - 4:13:01 PM
Last modification on : Wednesday, June 9, 2021 - 4:02:06 PM
Contributor : Céline Duparc <>
Submitted on : Thursday, December 19, 2019 - 4:13:01 PM
Last modification on : Wednesday, June 9, 2021 - 4:02:06 PM
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Identifiers
- HAL Id : hal-02419895, version 1
- DOI : 10.1210/jc.2018-02411
Collections
COMUE-NORMANDIE | FNCLCC | UNIROUEN | DC2N | SORBONNE-UNIVERSITE | IGR | UNAM | UNIV-PARIS | UP-SANTE | SU-TI
Citation
Alexandre Buffet, Laurène 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. Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2019, 104 (4), pp.1109-1118. ⟨10.1210/jc.2018-02411⟩. ⟨hal-02419895⟩
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