ESPE Abstracts

Purpose: Pheochromocytoma (PCC) and paraganglioma (PGL) (PPGL) are rare neuroendocrine tumors, and there is little information on how to treat them in children and adolescents. The objective of this study was to demonstrate the clinical presentation and treatment outcomes in children and adolescents with PPGL in a single Korean tertiary care hospital.

Methods: Korean patients diagnosed with PCC and PGL before the age of 21 were studied retrospectively for 26 years at a single center. We describe age, gender, family history, clinical characteristics, laboratory findings, pathologic findings, therapeutic approaches, and treatment outcomes.

Results: Of the 23 patients, 14 had PCC and 9 had PGL. At the time of diagnosis, the median age was 16.8 years (range: 6.8–20.8 years). Hypertension (41.7%) was the most prevalent presenting symptom, followed by headache (39.1%), palpitation (17.4%), and perspiration (17.4%). The plasma or 24-hour urine catecholamine and/or metabolite concentrations were markedly elevated in 14 patients (100%) with PCC and 8 patients (88.9%) with PGl, but were normal in one patient with carotid body PGL. Genetic tests were performed in 15 patients, and seven patients showed mutations in RET (n = 3), SDHB (n = 3), and VHL (n = 1). All patients had complete excision surgery, and three patients with metastasis.

Conclusion: According to this study, pediatric PPGL is extra-adrenal and bilateral, with a higher risk of genetic mutations. Genetic screening tests are strongly advised, and lifelong follow-up is required to detect recurrence and metastasis, given the hereditary predisposition to pediatric PPGL. Further research with a larger sample size and routine genetic screening is needed to better understand the genetic conditions and long-term prognosis of PPGL.