Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Endocrine. 2023 Jul;81(1):98-106. doi: 10.1007/s12020-023-03313-x. Epub 2023 Jan 23.
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.
PTEN 错构瘤肿瘤综合征（PHTS）由一组罕见的遗传疾病组成，这些疾病是由 PTEN 基因突变引起的，其特征是许多身体组织中良性和恶性病变的发展。在这项研究中，我们旨在评估成年和儿科 PHTS 患者的甲状腺发现的发生率。
对 2015 年至 2021 年在 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 接受治疗的 19 名（13 名成年和 6 名儿科）经基因检测证实患有 PHTS 的患者进行回顾性分析。
我们发现 12 名成年患者（92%）存在甲状腺受累：11 名患者存在良性病变（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。在良性病变中，最常见的发现是多结节性甲状腺肿（10/11，91%）。仅 6 名儿科患者中的 1 名（16%）在 8 岁时被诊断出甲状腺病变（轻度淋巴细胞性甲状腺炎的单发病变）。
甲状腺疾病几乎影响所有成年 PHTS 患者，但儿科患者的比例要低得多。我们讨论了甲状腺受累的自然史、PHTS 临床发病年龄和优化监测。
