{"title":"探索儿童神经内分泌肿瘤的异质性:单中心经验。","authors":"Cansu Koc, Yaprak Ece Yola Atalah, Sedat Bayrakoglu, Melek Yildiz, Semen Onder, Gulcin Yegen, Basak Erginel, Nihat Aksakal, Yasemin Giles, Asli Derya Kardelen, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler","doi":"10.1159/000546507","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":2.7000,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Exploring the Heterogeneity of Pediatric Neuroendocrine Tumors: Single-Center Experience.\",\"authors\":\"Cansu Koc, Yaprak Ece Yola Atalah, Sedat Bayrakoglu, Melek Yildiz, Semen Onder, Gulcin Yegen, Basak Erginel, Nihat Aksakal, Yasemin Giles, Asli Derya Kardelen, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler\",\"doi\":\"10.1159/000546507\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":13025,\"journal\":{\"name\":\"Hormone Research in Paediatrics\",\"volume\":\" \",\"pages\":\"1-8\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2025-05-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hormone Research in Paediatrics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1159/000546507\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hormone Research in Paediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000546507","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Exploring the Heterogeneity of Pediatric Neuroendocrine Tumors: Single-Center Experience.
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.
期刊介绍:
The mission of ''Hormone Research in Paediatrics'' is to improve the care of children with endocrine disorders by promoting basic and clinical knowledge. The journal facilitates the dissemination of information through original papers, mini reviews, clinical guidelines and papers on novel insights from clinical practice. Periodic editorials from outstanding paediatric endocrinologists address the main published novelties by critically reviewing the major strengths and weaknesses of the studies.