Skip to Main content Skip to Navigation
Journal articles

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

Marie de Tersant Lucile Généré Claire Freyçon Sophie Villebasse Rachid Abbas Anne Barlier 1, 2 Damien Bodet Nadège Corradini Anne-Sophie Defachelles Natacha Entz-Werle Cyrielle Fouquet Louise Galmiche Virginie Gandemer Brigitte Lacour Ludovic Mansuy Daniel Orbach Claire Pluchart Yves Réguerre Charlotte Rigaud Sabine Sarnacki Nicolas Sirvent Jean-Louis Stephan Estelle Thebaud Anne-Paule Gimenez-Roqueplo Laurence Brugières
1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
2 Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM]
Abstract : Abstract Purpose 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.
Document type :
Journal articles
Complete list of metadata
https://hal-amu.archives-ouvertes.fr/hal-03222589
Contributor : Valérie Gall <>
Submitted on : Monday, May 10, 2021 - 12:53:33 PM
Last modification on : Tuesday, May 11, 2021 - 3:15:29 AM

Links full text

openaccess

Identifiers

Collections

UNIV-AMU | MMG

Citation

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, Oxford University Press, 2020, 4 (5), ⟨10.1210/jendso/bvaa039⟩. ⟨hal-03222589⟩

Export

BibTeX TEI DC DCterms EndNote

Share

Metrics

Record views

23