Abstract：
PTEN hamartoma tumor syndrome (PHTS) comprises a group of rare genetic conditions caused by germline mutations in PTEN gene and characterized by development of both benign and malignant lesions in many body tissues. In this study, we aimed to evaluate the incidence of thyroid findings in both adult and pediatric PHTS patients.
A retrospectively analysis conducted in 19 (13 adult and 6 pediatric) patients with PHTS, all confirmed with genetic testing, observed from 2015 to 2021 at the Fondazione IRCCS Ca\' Granda Ospedale Maggiore Policlinico.
We found a thyroid involvement in 12 adult patients (92%): 11 patients had benign lesions (85%) and the remaining developed a follicular thyroid carcinoma (8.3%). The median age at time of the first available record was 30 years. Among benign lesions, multinodular goiter was the most observed finding (10/11, 91%). Only 1 out of 6 (16%) pediatric patients was diagnosed with a thyroid lesion (unifocal lesion in mild lymphocytic thyroiditis) at the age of 8 years.
Thyroid disorders affected nearly all adult PHTS patients, but a much lower proportion of pediatric patients. We discuss about the natural history of thyroid involvement, age of PHTS clinical onset, and optimized surveillance.
A retrospectively analysis conducted in 19 (13 adult and 6 pediatric) patients with PHTS, all confirmed with genetic testing, observed from 2015 to 2021 at the Fondazione IRCCS Ca\' Granda Ospedale Maggiore Policlinico.
We found a thyroid involvement in 12 adult patients (92%): 11 patients had benign lesions (85%) and the remaining developed a follicular thyroid carcinoma (8.3%). The median age at time of the first available record was 30 years. Among benign lesions, multinodular goiter was the most observed finding (10/11, 91%). Only 1 out of 6 (16%) pediatric patients was diagnosed with a thyroid lesion (unifocal lesion in mild lymphocytic thyroiditis) at the age of 8 years.
Thyroid disorders affected nearly all adult PHTS patients, but a much lower proportion of pediatric patients. We discuss about the natural history of thyroid involvement, age of PHTS clinical onset, and optimized surveillance.
摘要：
目的：PTEN错构瘤综合征（PTEN）包括一组由PTEN基因种系突变引起的罕见遗传病，其特征是在许多身体组织中发生良性和恶性病变。在这项研究中,我们旨在评估成人和儿童PHTS患者甲状腺表现的发生率.
方法：对19例（13例成人和6例儿童）PHTS患者进行回顾性分析，全部通过基因检测证实，从2015年到2021年在FondazioneIRCCSCa\'GrandaOspedaleMaggiorePoliclinico上观察到。
结果：我们发现12例成人患者（92%）有甲状腺受累：11例患者有良性病变（85%），其余患者发展为滤泡性甲状腺癌（8.3%）。首次记录时的中位年龄为30岁。良性病变中,多结节性甲状腺肿是观察到的最多发现（10/11，91％）。6名儿科患者中只有1名（16％）在8岁时被诊断出患有甲状腺病变（轻度淋巴细胞性甲状腺炎的单灶性病变）。
结论：甲状腺疾病影响了几乎所有成年PHTS患者，但儿科患者的比例要低得多。我们讨论甲状腺受累的自然史，PHTS临床发病年龄，优化监控
方法：对19例（13例成人和6例儿童）PHTS患者进行回顾性分析，全部通过基因检测证实，从2015年到2021年在FondazioneIRCCSCa\'GrandaOspedaleMaggiorePoliclinico上观察到。
结果：我们发现12例成人患者（92%）有甲状腺受累：11例患者有良性病变（85%），其余患者发展为滤泡性甲状腺癌（8.3%）。首次记录时的中位年龄为30岁。良性病变中,多结节性甲状腺肿是观察到的最多发现（10/11，91％）。6名儿科患者中只有1名（16％）在8岁时被诊断出患有甲状腺病变（轻度淋巴细胞性甲状腺炎的单灶性病变）。
结论：甲状腺疾病影响了几乎所有成年PHTS患者，但儿科患者的比例要低得多。我们讨论甲状腺受累的自然史，PHTS临床发病年龄，优化监控
