Abstract：
UNASSIGNED: 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. Since the literature describes PHTS patients who developed DTC before age 18, the Dutch PHTS expertise centre has initiated annual ultrasound surveillance starting from age 12. The purpose of this study was to identify the yield of thyroid ultrasound surveillance in children.
UNASSIGNED: A retrospective single centre cohort study was conducted. Pediatric PHTS patients who received thyroid ultrasound surveillance before age 18 between 2016-2023 were included. Patients\' medical records have been reviewed. Primary outcomes included prevalence and time to develop thyroid nodules ≥10mm, nodular growth, goiter, thyroiditis and DTC. Descriptive statistics and Kaplan-Meier analyses were performed.
UNASSIGNED: Forty-three patients were included. Two patients (5%) were diagnosed with DTC at ages 12 and 17. 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 years (range 9-18). 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 patients (16%).
UNASSIGNED: Thyroid ultrasound surveillance resulted in the detection of DTC in 2/43 PHTS patients before age 18. These findings support the recommendation to initiate thyroid ultrasound surveillance in children at least from age 12, preferably within an expertise centre.
UNASSIGNED: A retrospective single centre cohort study was conducted. Pediatric PHTS patients who received thyroid ultrasound surveillance before age 18 between 2016-2023 were included. Patients\' medical records have been reviewed. Primary outcomes included prevalence and time to develop thyroid nodules ≥10mm, nodular growth, goiter, thyroiditis and DTC. Descriptive statistics and Kaplan-Meier analyses were performed.
UNASSIGNED: Forty-three patients were included. Two patients (5%) were diagnosed with DTC at ages 12 and 17. 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 years (range 9-18). 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 patients (16%).
UNASSIGNED: Thyroid ultrasound surveillance resulted in the detection of DTC in 2/43 PHTS patients before age 18. These findings support the recommendation to initiate thyroid ultrasound surveillance in children at least from age 12, preferably within an expertise centre.
摘要：
■患有PTEN错构瘤综合征（PHTS）的儿童发生甲状腺异常的风险增加，包括分化型甲状腺癌(DTC)。荷兰PHTS指南建议从18岁开始进行超声监测。由于文献描述了在18岁之前发展DTC的PHTS患者，荷兰PHTS专家中心从12岁开始进行年度超声监测。这项研究的目的是确定儿童甲状腺超声监测的产量。
■进行回顾性单中心队列研究。包括在2016-2023年之间在18岁之前接受甲状腺超声监测的小儿PHTS患者。已审查患者的医疗记录。主要结果包括患病率和发生甲状腺结节≥10mm的时间。结节状生长,甲状腺肿,甲状腺炎和DTC。进行描述性统计和Kaplan-Meier分析。
■纳入43例患者。两名患者（5％）在12岁和17岁时被诊断为DTC。两种DTC分别在pT3NxMx和pT1NxMx阶段被鉴定为微创滤泡癌。在中位年龄为12岁（范围9-18）时，共有84％的人被诊断出患有甲状腺异常。最常见的发现是良性的，包括结节性疾病（74%），甲状腺肿(30%)和自身免疫性甲状腺炎(12%)。在14例患者（33％）中观察到结节生长，导致7例患者（16％）进行（半）甲状腺切除术。
■甲状腺超声监测导致在18岁之前的2/43PHTS患者中检测到DTC。这些发现支持建议至少从12岁开始对儿童进行甲状腺超声监测，最好在专家中心内进行。
■进行回顾性单中心队列研究。包括在2016-2023年之间在18岁之前接受甲状腺超声监测的小儿PHTS患者。已审查患者的医疗记录。主要结果包括患病率和发生甲状腺结节≥10mm的时间。结节状生长,甲状腺肿,甲状腺炎和DTC。进行描述性统计和Kaplan-Meier分析。
■纳入43例患者。两名患者（5％）在12岁和17岁时被诊断为DTC。两种DTC分别在pT3NxMx和pT1NxMx阶段被鉴定为微创滤泡癌。在中位年龄为12岁（范围9-18）时，共有84％的人被诊断出患有甲状腺异常。最常见的发现是良性的，包括结节性疾病（74%），甲状腺肿(30%)和自身免疫性甲状腺炎(12%)。在14例患者（33％）中观察到结节生长，导致7例患者（16％）进行（半）甲状腺切除术。
■甲状腺超声监测导致在18岁之前的2/43PHTS患者中检测到DTC。这些发现支持建议至少从12岁开始对儿童进行甲状腺超声监测，最好在专家中心内进行。
