Pediatric patients with pheochromocytoma and paraganglioma should have routine preoperative genetic testing for common susceptibility genes in addition to imaging to detect extra-adrenal and metastatic tumors.

Abstract

Pediatric pheochromocytomas and paragangliomas are rare with limited data on the optimal management approach. The aim of this study was to determine the role of genetic testing and imaging to detect extra-adrenal and/or metastatic tumors in pediatric pheochromocytomas and paragangliomas. We performed a retrospective study of 55 patients diagnosed at ≤21 years of age with pheochromocytomas and paragangliomas with analysis of data on genetic testing and multimodal imaging. Eighty percent of patients (n = 44/55) had a germline mutation. The majority were found to have either VHL (38%) or SDHB (25%) mutation. Pheochromocytoma was present in 67% (n = 37/55) of patients and was bilateral in 51% (n = 19/37). The majority of patients with bilateral pheochromocytomas had VHL (79%). Abdominal paragangliomas was present in 22% (n = 12/55), head and neck paragangliomas in 11% (n = 6/55), and thoracic paragangliomas in 2 of 55 patients. For paragangliomas, SDHx accounted for 72% (n = 13/18) of mutations. The rate of malignancy was 16% (n = 9/55), 56% of whom had SDHB mutations. In two-thirds of patients, functional imaging identified either extra-adrenal paragangliomas and/or metastatic disease. The majority of pediatric patients with pheochromocytomas and paragangliomas have detectable germline mutations. Therefore, we suggest strongly that all pediatric patients with pheochromocytomas and paragangliomas undergo genetic testing and imaging to detect extra-adrenal paragangliomas and metastatic disease to guide treatment and follow-up.