RESUMO
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 (nâ =â 7 second PPGL, nâ =â 1 second paraganglioma [PGL], nâ =â 8 local recurrences, nâ =â 10 metastatic relapses, nâ =â 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 [nâ =â 25], VHL [nâ =â 21], RET [nâ =â 2], HIF2A [nâ =â 2], SDHC [nâ =â 1], SDHD [nâ =â 1], NF1 [nâ =â 1]). Incomplete resection and synchronous metastases were associated with higher risk of events (Pâ =â .011, Pâ =â .004), but presence of a germline mutation was not (Pâ =â .11). CONCLUSIONS: Most pediatric PPGLs are associated with germline mutations and require specific follow-up because of the high risk of tumor recurrence.