Journal of the Endocrine Society Journal Article

Pheochromocytoma and Paraganglioma in Children

April 03, 2020
 

Marie de Tersant, Lucile Généré, Claire Freyçon, Sophie Villebasse, Rachid Abbas, Anne Barlier, 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
Journal of the Endocrine Society, Volume 4, Issue 5, May 2020, bvaa039
https://doi.org/10.1210/jendso/bvaa039

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.

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