Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Exp Clin Endocrinol Diabetes. 2023 Oct;131(10):515-522. doi: 10.1055/a-2127-9292. Epub 2023 Jul 12.
Adrenal tumors are generally rare in children and can be a part of familial cancer syndrome. This research was conducted to examine the clinical outcomes, histopathological results, and genetic etiologies of adrenal tumors in children and adolescents.
Thirty-one children and adolescents with adrenal tumors were included. Data on clinical outcomes and endocrine and radiologic results were retrospectively analyzed. Molecular analysis was conducted in select patients according to their phenotype and family history.
The median age at diagnosis was 7.9 years (range: 0.8-17.8 years) with 5.1±1.8 cm of maximum tumor diameter. Adrenal adenoma (n=7), carcinoma (n=5), borderline (n=2), isolated micronodular adrenocortical disease (n=2), pheochromocytoma (n=8), paraganglioma (n=3), and ganglioneuroma (n=4) are all pathological diagnoses. The most common presenting symptom was excess production of adrenocortical hormones (n=15), including virilization and Cushing syndrome. Non-functioning adrenocortical tumors were found in a patient with congenital adrenal hyperplasia. Genetic etiologies were identified in (n=5), (n=4), and (n=1). Patients with mutations in were young (1.5±0.5 years) and had large masses (6.1±2.3 cm).
This study describes clinical outcomes and the pathological spectrum of adrenal tumors in children and adolescents. Adrenocortical tumors mostly presented with an excess of the adrenocortical hormone. Patients with genetic defects presented at a young age and large size of tumors, necessitating genetic testing in patients at a young age.
儿童肾上腺肿瘤一般较为罕见，且可能为家族性癌症综合征的一部分。本研究旨在研究儿童和青少年肾上腺肿瘤的临床结局、组织病理学结果和遗传病因。
共纳入 31 例肾上腺肿瘤患儿。回顾性分析其临床结局和内分泌及影像学结果。根据表型和家族史，对部分患者进行分子分析。
诊断时的中位年龄为 7.9 岁（范围：0.8-17.8 岁），最大肿瘤直径为 5.1±1.8cm。病理诊断为肾上腺腺瘤（n=7）、癌（n=5）、交界性肿瘤（n=2）、孤立性微结节性肾上腺皮质疾病（n=2）、嗜铬细胞瘤（n=8）、副神经节瘤（n=3）和神经节细胞瘤（n=4）。最常见的首发症状为肾上腺皮质激素过度分泌（n=15），包括性早熟和库欣综合征。1 例先天性肾上腺皮质增生患者表现为无功能肾上腺皮质肿瘤。发现 5 例存在基因突变，4 例存在 基因突变，1 例存在 基因突变。携带 基因突变的患者年龄较小（1.5±0.5 岁），肿瘤较大（6.1±2.3cm）。
本研究描述了儿童和青少年肾上腺肿瘤的临床结局和病理谱。肾上腺皮质肿瘤主要表现为肾上腺皮质激素过度分泌。存在遗传缺陷的患者发病年龄较小，肿瘤较大，因此需要对年轻患者进行基因检测。
