Abstract
PurposePheochromocytoma (PCC) and paraganglioma (PGL) (PPGL) are rare neuroendocrine tumors, and data on managing these conditions in children and adolescents are lacking. The objective of this study was to demonstrate the clinical presentation and treatment outcomes in children and adolescents with PPGL in a single tertiary care center in Korea.MethodsThis retrospective study included 23 patients diagnosed with PCC (n = 14) and PGL (n = 9) before the age of 21 at Samsung Medical Center (from June 1994 to June 2019). We describe age, gender, family history, clinical characteristics, laboratory findings, pathologic findings, therapeutic approaches, and treatment outcomes.ResultsOf the 23 patients, 14 had PCC and nine had PGL. The median age at diagnosis was 16.8 years (range, 6.8–20.8 years). The common presenting symptoms were hypertension (n = 10), headache (n = 9), palpitation (n = 4), and sweating (n = 4). The plasma or 24-hour urine catecholamine and/or metabolite concentrations were markedly elevated in 22 patients with PPGL, but were normal in one patient with carotid body PGL. All tumors were visualized on computed tomography. 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 underwent surgery, and complete excision was performed successfully. Three patients with metastasis underwent postoperative adjuvant therapy.ConclusionThis study suggests that pediatric PPGL tends to be extra-adrenal and bilateral and shows a higher potential for genetic mutations. Considering the hereditary predisposition of pediatric PPGL, genetic screening tests are strongly recommended, and lifelong follow-up is needed to detect recurrence and metastasis. 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.
Highlights
Pheochromocytoma (PCC) and paraganglioma (PGL) (PPGL) are rare neoplasm, which arise from chromaffin cells that release catecholamines, including epinephrine (EPI), norepinephrine (NE), and dopamine [1]
The plasma or 24-hour urine catecholamine and/or metabolite concentrations were markedly elevated in 22 patients with PPGL, but were normal in one patient with carotid body PGL
To detect metastatic or multifocal disease, functional imaging with MIBG scintigraphy or positron emission tomography (PET) was performed in conjunction with computed tomography (CT) or magnetic resonance imaging (MRI)
Summary
Pheochromocytoma (PCC) and paraganglioma (PGL) (PPGL) are rare neoplasm, which arise from chromaffin cells that release catecholamines, including epinephrine (EPI), norepinephrine (NE), and dopamine [1]. The “rule of 10%” for PPGLs implies that 10% are malignant, 10% are bilateral, 10% are extra-adrenal, 10% are hereditary, and 10% are in children [8]. There are no clinical, biochemical, or histopathological criteria for malignant PPGL [12, 13]. Data for pediatric PPGL are limited, and the clinical management of PPGL in children and adolescents is usually extrapolated from adult data [8].
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