Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Department of Pediatric Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Front Endocrinol (Lausanne). 2021 Jan 29;11:610746. doi: 10.3389/fendo.2020.610746. eCollection 2020.
Pheochromocytoma (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.
This retrospective study included 23 patients diagnosed with PCC ( = 14) and PGL ( = 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.
Of 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 ( = 10), headache ( = 9), palpitation ( = 4), and sweating ( = 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 ( = 3), ( = 3), and ( = 1). All patients underwent surgery, and complete excision was performed successfully. Three patients with metastasis underwent postoperative adjuvant therapy.
This 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.
嗜铬细胞瘤（PCC）和副神经节瘤（PGL）（PPGL）是罕见的神经内分泌肿瘤，儿童和青少年中这些疾病的管理数据缺乏。本研究的目的是在韩国的一家三级保健中心展示儿童和青少年中 PPGL 的临床表现和治疗结果。
这项回顾性研究包括了在三星医疗中心（1994 年 6 月至 2019 年 6 月）被诊断为 PCC（n = 14）和 PGL（n = 9）的 23 名年龄在 21 岁以下的患者。我们描述了年龄、性别、家族史、临床特征、实验室发现、病理发现、治疗方法和治疗结果。
23 名患者中，14 名患有 PCC，9 名患有 PGL。诊断时的中位年龄为 16.8 岁（范围，6.8-20.8 岁）。常见的表现症状为高血压（n = 10）、头痛（n = 9）、心悸（n = 4）和出汗（n = 4）。22 名患者的血浆或 24 小时尿液儿茶酚胺和/或代谢物浓度明显升高，但一名颈动脉体 PGL 患者的浓度正常。所有肿瘤均在计算机断层扫描中可视化。对 15 名患者进行了基因检测，7 名患者显示 （n = 3）、 （n = 3）和 （n = 1）的突变。所有患者均接受了手术，成功进行了完全切除。3 名有转移的患者接受了术后辅助治疗。
本研究表明，儿科 PPGL 倾向于发生在肾上腺外和双侧，且具有更高的遗传突变潜力。考虑到儿科 PPGL 的遗传倾向，强烈建议进行基因筛查测试，需要进行终身随访以检测复发和转移。需要进行更大规模的样本量和常规基因筛查的进一步研究，以更好地了解 PPGL 的遗传状况和长期预后。
