Bormans Esther M G, Schuurs-Hoeijmakers Janneke H M, van Setten Petra, Hendricks Linda A J, Drissen Meggie M C M, Gotthardt Martin, Claahsen-van der Grinten Hedi L, Hoogerbrugge Nicoline, Schieving Jolanda H
Amalia Children’s Hospital, Radboud University Medical Centre, Department of Pediatric Neurology, Nijmegen, The Netherlands
Radboud University Medical Centre, Radboud University Medical Centre, Expert Centre for PHTS, Department of Human Genetics, Nijmegen, the Netherlands
J Clin Res Pediatr Endocrinol. 2025 Mar 19;17(1):46-57. doi: 10.4274/jcrpe.galenos.2024.2024-3-14. Epub 2024 Aug 8.
Children with PTEN hamartoma tumor syndrome (PHTS) are at increased risk for developing thyroid abnormalities, including differentiated thyroid carcinoma (DTC). The Dutch PHTS guideline recommends ultrasound surveillance starting from age 18 years. Since the literature describes PHTS patients who developed DTC before this age, the Dutch PHTS expertise center has initiated annual ultrasound surveillance starting from age 12 years. The purpose of this study was to identify the yield of thyroid ultrasound surveillance using this cut-off.
A retrospective, single center, cohort study was conducted. Pediatric PHTS patients who received thyroid ultrasound surveillance before age 18 years between 2016-2023 were included. Medical records were reviewed. Primary outcomes included prevalence and time to develop thyroid nodules ≥10 mm, nodular growth, goiter, thyroiditis and DTC. Descriptive statistics and Kaplan-Meier analyses were performed.
Forty-three patients were included. Two (5%) were diagnosed with DTC at ages 12 and 17 years. Both DTCs were identified as minimally invasive follicular carcinoma at stages pT3NxMx and pT1NxMx respectively. A total of 84% were diagnosed with thyroid abnormalities at a median age of 12 (9-18) years. Most common findings were benign, including nodular disease (74%), goiter (30%) and autoimmune thyroiditis (12%). Nodular growth was observed in 14 patients (33%) resulting in (hemi)thyroidectomy in 7 (16%).
Thyroid ultrasound surveillance resulted in the detection of DTC in 2/43 (4.65%) PHTS patients before age 18. These findings support the recommendation to initiate thyroid ultrasound surveillance in children with PHTS from at least age 12, preferably within an expertise center.
患有PTEN错构瘤综合征（PHTS）的儿童发生甲状腺异常（包括分化型甲状腺癌（DTC））的风险增加。荷兰PHTS指南建议从18岁开始进行超声监测。由于文献报道了在此年龄之前发生DTC的PHTS患者，荷兰PHTS专业中心已开始从12岁起每年进行超声监测。本研究的目的是确定使用该临界值进行甲状腺超声监测的收益。
进行了一项回顾性、单中心队列研究。纳入2016年至2023年间在18岁之前接受甲状腺超声监测的儿科PHTS患者。对病历进行了审查。主要结局包括甲状腺结节≥10 mm的患病率和发生时间、结节生长、甲状腺肿、甲状腺炎和DTC。进行了描述性统计和Kaplan-Meier分析。
纳入43例患者。2例（5%）分别在12岁和17岁时被诊断为DTC。这两例DTC分别被确定为pT3NxMx期和pT1NxMx期的微侵袭性滤泡癌。共有84%的患者在中位年龄12岁（9 - 18岁）时被诊断为甲状腺异常。最常见的发现是良性病变，包括结节性疾病（74%）、甲状腺肿（30%）和自身免疫性甲状腺炎（12%）。14例患者（33%）观察到结节生长，其中7例（16%）接受了（半）甲状腺切除术。
甲状腺超声监测在18岁之前的43例PHTS患者中检测到2例（4.65%）DTC。这些结果支持了至少从12岁起对PHTS儿童进行甲状腺超声监测的建议，最好在专业中心内进行。
