Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE)

Marie de Tersant (1, 2) , Lucile Généré (3) , Claire Freyçon (4) , Sophie Villebasse (1, 5) , Rachid Abbas (1, 2) , Anne A. Barlier (6, 7) , Damien Bodet (8) , Nadège Corradini (3) , Anne-Sophie Defachelles (9) , Natacha Entz-Werle (10) , Cyrielle Fouquet (11) , Louise Galmiche (12) , Virginie Gandemer (13) , Brigitte Lacour (14) , Ludovic Mansuy (15) , Daniel Orbach (16, 17) , Claire Pluchart (18) , Yves Réguerre (19) , Charlotte Rigaud (1, 2) , Sabine Sarnacki (12) , Nicolas Sirvent (20) , Jean-Louis Stephan (21) , Estelle Thebaud (22) , Anne-Paule Gimenez-Roqueplo (23, 24) , Laurence Brugières (1, 2)

1 IGR - Institut Gustave Roussy
2 Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy]
3 IHOPe - Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL]
4 CHU - Centre Hospitalier Universitaire [Grenoble]
5 Département de médecine oncologique [Gustave Roussy]
6 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
7 Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM]
8 Unité d'hémato-immuno-oncologie pédiatrique [CHU Caen]
9 Centre Oscar Lambert
10 Service d'Hématologie et Oncologie pédiatriques [CHU Strasbourg]
11 CHU de Bordeaux Pellegrin [Bordeaux]
12 CHU Necker - Enfants Malades [AP-HP]
13 Hôpital Sud [CHU Rennes]
14 CRESS - U1153 - Equipe 7 : EPICEA - Epidémiologie des cancers de l'enfant et de l'adolescent
15 CHU Nancy - Centre Hospitalier Universitaire de Nancy
16 Centre de recherche de l'Institut Curie [Paris]
17 SFCE - Société française de lutte contre les cancers et les leucémies de l’enfant et de l’adolescent
18 CHU Reims - Centre Hospitalier Universitaire de Reims
19 Département d'hématologie et oncologie pédiatrique [CHU La Réunion]
20 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
21 CHU de Saint-Etienne - Centre Hospitalier Universitaire de Saint-Etienne
22 Département de pédiatrie [CHU Nantes]
23 PARCC (UMR_S 970/ U970) - Paris-Centre de Recherche Cardiovasculaire
24 HEGP - Hôpital Européen Georges Pompidou [APHP]

The purpose of this work is to assess the clinical outcome of pediatric patients diagnosed with pheochromocytoma and paraganglioma (PPGL) detected in France since 2000. Methods A retrospective multicenter study was conducted that included all patients younger than 18 years with PPGL diagnosed in France between 2000 and 2016. Patients were identified from 4 different sources: the National Registry of Childhood Solid Tumors, the French Pediatric Rare Tumors Database, the French registry of succinate dehydrogenase (SDH)-related hereditary paraganglioma, and the nationwide TenGen network. Results Among 113 eligible patients, 81 children with available data were enrolled (41 with adrenal and 40 with extra-adrenal PPGL). At diagnosis, 11 had synchronous metastases. After a median follow-up of 53 months, 27 patients experienced a new event (n = 7 second PPGL, n = 1 second paraganglioma [PGL], n = 8 local recurrences, n = 10 metastatic relapses, n = 1 new tumor) and 2 patients died of their disease. The 3- and 10-year event-free survival rates were 80% (71%-90%) and 39% (20%-57%),respectively, whereas the overall survival rate was 97% (93%-100%)at 3 and 10 years. A germline mutation in one PPGL-susceptibility gene was identified in 53 of the 68 (77%) patients who underwent genetic testing (SDHB [n = 25], VHL [n = 21], RET [n = 2], HIF2A [n = 2], SDHC [n = 1], SDHD [n = 1], NF1 [n = 1]). Incomplete resection and synchronous metastases were associated with higher risk of events (P = .011, P = .004), but presence of a germline mutation was not (P = .11). Conclusions Most pediatric PPGLs are associated with germline mutations and require specific follow-up because of the high risk of tumor recurrence.

Domains: Life Sciences [q-bio]; Human health and pathology; Life Sciences [q-bio]; Cancer

Marie de Tersant, Lucile Généré, Claire Freyçon, Sophie Villebasse, Rachid Abbas, et al.. Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE). Journal of the Endocrine Society, 2020, 4 (5), ⟨10.1210/jendso/bvaa039⟩. ⟨hal-03222589⟩