Exploring the Heterogeneity of Pediatric Neuroendocrine Tumors: Single-Center Experience

Abstract

Introduction: Neuroendocrine tumors (NETs) are rare, slow-growing tumors with distinct clinical manifestations that can be challenging to diagnose and treat, particularly in children. This retrospective study aimed to improve the diagnosis and treatment of NETs by evaluating their clinical course, hormonal activity, and long-term effects in children.

Methods: A retrospective study was conducted on 26 pediatric patients diagnosed with NETs between 2000 and 2024. The cohort included patients with pheochromocytoma and paraganglioma (PPGL), gastroenteropancreatic neuroendocrine tumors (GEP-NETs), medullary thyroid carcinoma (MTC), and C-cell hyperplasia. The data included demographic, clinical, laboratory, and imaging results.

Results: The study cohort included 26 patients (57.6% male). The median age for diagnosis of NETs was 8.8 (range: 1.0-16.6) years. Among the NETs, 15.4% were GEP-NETs, 15.4% were PPGL, 15.4% were C-cell hyperplasia, and 53.8% were MTC. The median follow-up was 5 (range: 1-14) years. Among the patients in the study cohort, only 1 patient died due to MTC. Genetic analysis revealed mutations in the RET gene in 69.2% of patients, mutations in the VHL gene in 3.8%, and no mutations in 3.8%. 23% of the patients did not undergo genetic testing.

Conclusion: Early diagnosis, genetic screening, and long-term follow-up are crucial in managing pediatric NETs to reduce morbidity and mortality. Genetic testing is essential for identifying comorbidities and screening family members at risk.

Keywords: C-cell hyperplasia; Medullary thyroid cancer; Neuroendocrine tumors pheochromocytoma.