The Clinical Spectrum of PTEN Hamartoma Tumor Syndrome: Exploring the Value of Thyroid Surveillance.
The Clinical Spectrum of PTEN Hamartoma Tumor Syndrome: Exploring the Value of Thyroid Surveillance.
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DOI：
10.1159/000515731
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发表时间：
2020
影响因子：
3.2
通讯作者：
Bauer AJ
中科院分区：
文献类型：
--
作者：
Baran JA;Tsai SD;Isaza A;Brodeur GM;MacFarland SP;Zelley K;Adams DM;Franco AT;Bauer AJ
PTEN错构瘤肿瘤综合征（PHTS）包括以PTEN的组成性变体为特征的临床特征的集合。一些指南建议在PHTS诊断时从儿科年龄开始进行甲状腺筛查;然而，早期监测的益处尚未得到很好的定义。我们对2003年1月至2019年6月期间在费城儿童医院随访的诊断为PHTS的患者进行了回顾性调查。总共确定了81名19岁以下的患者。最常见的临床特征是大头畸形（85.1%），其次是发育受损（42.0%）、皮肤/口腔病变（30.9%）和自闭症谱系障碍（27.2%）。81例患者中共有58例接受了甲状腺监测，其中30例（51.7%）发现有结节。最终，16例患者接受了甲状腺切除术，其中7.4%（6/81）诊断为甲状腺癌。所有甲状腺癌患者在诊断时年龄均大于10岁，并且均表现出低侵入性行为。在甲状腺超声（US）监测时年龄小于10岁的患者中，71.4%（15/21）的US正常。其余6名患者有甲状腺结节，包括4名接受甲状腺手术的良性组织学。患有大头畸形、认知发育受损和甲状腺结节和/或早发性胃肠道（GI）息肉的患者应接受PHTS体质测试。在10岁之前开始甲状腺US监测似乎没有临床优势。对于体格检查正常的PHTS患者，甲状腺US监测可延迟至10岁。
PTEN Hamartoma Tumor Syndrome (PHTS) comprises a collection of clinical features characterized by constitutional variants in PTEN. Several guidelines recommend thyroid screening beginning in pediatric age at the time of PHTS diagnosis; however, the benefit of early surveillance has not been well defined. We conducted a retrospective investigation of patients followed at the Children’s Hospital of Philadelphia with a diagnosis of PHTS between January 2003 and June 2019. In total, 81 patients under 19 years of age were identified. The most common clinical feature at presentation was macrocephaly (85.1%) followed by impaired development (42.0%), skin/oral lesions (30.9%), and autism spectrum disorder (27.2%). A total of 58 of 81 patients underwent thyroid surveillance, with 30 patients (51.7%) found to have a nodule(s). Ultimately, 16 patients underwent thyroidectomy, with 7.4% (6/81) diagnosed with thyroid cancer. All thyroid cancer patients were older than 10 years of age at diagnosis, and all displayed low-invasive behavior. Of the patients younger than 10 years at the time of thyroid ultrasound (US) surveillance, 71.4% (15/21) had a normal US. The remaining six patients had thyroid nodules, including four undergoing thyroid surgery with benign histology. Patients with macrocephaly, impaired cognitive development and thyroid nodules and/or early onset gastrointestinal (GI) polyps should undergo constitutional testing for PHTS. There does not appear to be a clinical advantage to initiating thyroid US surveillance before 10 years of age. In PHTS patients with a normal physical exam, thyroid US surveillance can be delayed until 10 years of age.
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DOI：
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影响因子：
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影响因子：
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影响因子：
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影响因子：
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