探索儿童神经内分泌肿瘤的异质性:单中心经验。

IF 2.7 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM
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
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引用次数: 0

摘要

神经内分泌肿瘤(NETs)是一种罕见的、生长缓慢的肿瘤,具有独特的临床表现,诊断和治疗具有挑战性,特别是在儿童中。本回顾性研究旨在通过评估NETs在儿童中的临床病程、激素活性和长期影响来改善NETs的诊断和治疗。方法:对2000年至2024年26例诊断为NETs的儿童患者进行回顾性研究。该队列包括嗜铬细胞瘤和副神经节瘤(PPGL)、胃肠胰神经内分泌肿瘤(GEP-NETs)、甲状腺髓样癌(MTC)、C细胞增生患者。数据包括人口统计、临床、实验室和影像学结果。结果:研究队列纳入26例患者(男性57.6%)。NETs诊断的中位年龄为8.8岁(范围:1.0-16.6)。其中,GEP-NETs占15.4%,PPGL占15.4%,C细胞增生15.4%,MTC占53.8%。中位随访时间为5年(范围:1-14年)。在研究队列中,只有1例患者死于MTC。基因分析显示69.2%的患者存在RET基因突变,3.8%的患者存在VHL基因突变,3.8%的患者无突变。23%的患者没有进行基因检测。结论:早期诊断、遗传筛查和长期随访对于降低儿童NETs的发病率和死亡率至关重要。基因检测对于确定合并症和筛查有风险的家庭成员至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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来源期刊
Hormone Research in Paediatrics
Hormone Research in Paediatrics ENDOCRINOLOGY & METABOLISM-PEDIATRICS
CiteScore
4.90
自引率
6.20%
发文量
88
审稿时长
4-8 weeks
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.
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