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J Clin Endocrinol Metab. 2019 Apr 1;104(4):1109-1118. doi: 10.1210/jc.2018-02411.

Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma.

Author information

1
Équipe Labellisée par la Ligue Contre le Cancer, INSERM, UMR970, Paris-Centre de Recherche Cardiovasculaire, Paris, France.
2
Service d'Endocrinologie, Hôpital Larrey, CHU de Toulouse, Toulouse, France.
3
Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France.
4
Gustave Roussy, Université Paris-Saclay, Service de Médecine Nucléaire et Cancérologie Endocrinienne, Villejuif, France.
5
Service d'Endocrinologie, Diabétologie et Maladies Métaboliques, L'institut du Thorax, Centre Hospitalier Universitaire de Nantes, Hôpital Nord Laënnec, Nantes, France.
6
Assistance Publique, Hôpitaux de Paris, Hôpital Cochin, Service d'Endocrinologie, Centre de Référence Maladies Rares de la Surrénale, Paris, France.
7
Assistance Publique, Hôpitaux de Paris, Service de Médecine Interne et Endocrinologie, Hôpital Henri Mondor, Créteil, France.
8
Assistance Publique-Hôpitaux de Paris, Hôpital Universitaire Pitié-Salpêtrière, Service d'ORL, Unité d'Otologie, Implantologie Auditive et Chirurgie de la Base du Crâne, Paris, France.
9
Service d'ORL et de Chirurgie Cervico-Faciale, Hôpital Foch, Suresnes, France.
10
Service d'Endocrinologie, CHU de Grenoble-Alpes, La Tronche, Grenoble, France.
11
Service d'ORL et de Chirurgie Cervico-Faciale, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.
12
Service d'Endocrinologie, Hôpital Robert Debré, CHU de Reims, Reims, France.
13
Service d'Endocrinologie, Hôpital Nord, CHU d'Amiens-Picardie, Amiens, France.
14
Service de Médecine Interne, Endocrinologie et Nutrition, Hôpitaux Universitaires de Strasbourg, Faculté de Médecine, Université de Strasbourg, Strasbourg, France.
15
Service d'Endocrinologie, CHU de Rennes, Rennes, France.
16
Assistance Publique, Hôpitaux de Paris, Service ORL-CCF, Hôpital Lariboisière, Université Paris VII, AP-HP, Paris, France.
17
Service d'Endocrinologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
18
Centre Hospitalier Universitaire de Rouen, Service d'Endocrinologie, Diabète et Maladies Métaboliques, Rouen, France.
19
Service d'Endocrinologie, Hôpital Bretonneau, CHU de Tours, Tours, France.
20
Service d'Endocrinologie, CHU Montpellier, Hôpital Lapeyronie, Montpellier, France.
21
Service d'Endocrinologie, CHU de Caen, Caen, France.
22
Service d'Endocrinologie, Hôpital de L'Archet, CHU de Nice, Nice, France.
23
Service d'Endocrinologie, Hôpital Haut-Lévêque, CHU de Bordeaux, Pessac, France.
24
Service d'Endocrinologie, Hôpital Gabriel Montpied, CHU de Clermont-Ferrand, Clermont-Ferrand, France.
25
Assistance Publique-Hôpitaux de Paris, Hôpital Universitaire Robert Debré, Service d'Endocrinologie Diabétologie Pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement, Paris, France.
26
Université Paris Descartes, PRES Sorbonne Paris Cité, Faculté de Médecine, Paris, France.
27
Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service d'Hypertension Artérielle et Médecine Vasculaire, 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.

PMID:
30698717
DOI:
10.1210/jc.2018-02411

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