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
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.
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.
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).
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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