磷酸酶和张力蛋白同源物 (PTEN) 错构瘤肿瘤综合征 (PHTS) 是一种遗传性疾病，临床表现多样，终生患多器官恶性肿瘤的风险增加。甲状腺通常受到滤泡结节病 (FND) 和滤泡细胞源性癌的影响。对 PHTS 中的甲状腺疾病进行组织病理学和免疫组织化学评估对于识别高危患者至关重要。总共回收了 30 名具有可用甲状腺切除标本材料（2000-2023 年）的 PHTS 患者和 31 名患有 FND 和“腺瘤结节”的对照患者。组织学标准，包括腺瘤型结节与增生型结节的频率、背景和结节性脂肪瘤化生、慢性淋巴细胞性甲状腺炎、结节中滤泡细胞的细胞质清除、结节中的结节外观以及结节之间的核异型性谱。对两个队列进行了评估，并建立了甲状腺组织形态学 PHTS 评分 (THiPS) 系统，以 4 分或更高的分界线考虑 PHTS。总共有 27 名 PHTS (90%) 和 5 名对照病例 (16.1%) 的 THiPS ≥4。对每个队列的 25 例病例进行 PTEN 免疫组织化学染色评估，结果显示 24/25 PHTS 病例的所有或大部分结节中核和细胞质表达缺失。在 3/25 的对照病例中，两个 THiPS ≥4，在一到多个结节中表达缺失。 PHTS 患者的传统乳头状甲状腺癌保留了 PTEN 细胞质表达。我们的研究支持，尽管不具体，但与非 PHTS 对照组相比，在 PHTS 患者中更频繁地发现多种组织学特征。 THiPS 系统对 PHTS 患者的甲状腺标本具有高灵敏度。© 2024 作者。组织病理学由约翰·威利出版

The phosphatase and tensin homologue (PTEN) hamartoma tumour syndrome (PHTS) is a genetic disorder with variable clinical presentation and increased lifetime risk of multiorgan malignancies. The thyroid gland is commonly affected with follicular nodular disease (FND) and follicular cell-derived carcinomas. Histopathological and immunohistochemical assessment of thyroid disease in PHTS is essential to identify patients at-risk.In all, 30 PHTS patients with available thyroidectomy specimen material (2000-2023) and 31 control patients with FND and "adenomatous nodules" were retrieved. Histologic criteria, including the frequency of adenomatous-type nodules versus hyperplastic-type nodules, background and nodular lipomatous metaplasia, chronic lymphocytic thyroiditis, cytoplasmic clearing of follicular cells in nodules, nodule-in-nodule appearance, and spectrum of nuclear atypia between nodules were evaluated in both cohorts and a Thyroid Histomorphologic PHTS Score (THiPS) system was established with a cutoff of 4 points or higher being considered concerning for PHTS. In all, 27 PHTS (90%) and five control (16.1%) cases had THiPS ≥4. A PTEN immunohistochemical stain was evaluated in 25 cases of each cohort and showed nuclear and cytoplasmic loss of expression in all or most of the nodules of 24/25 PHTS cases. In 3/25 control cases, two with THiPS ≥4, had loss of expression in one to multiple nodules. Conventional papillary thyroid carcinomas in PHTS patients retained PTEN cytoplasmic expression.Our study supports that, although not specific, the finding of multiple histologic features is found more frequently in patients with PHTS compared to the non-PHTS control group. The THiPS system has high sensitivity for thyroid specimens from patients with PHTS.© 2024 The Author(s). Histopathology published by John Wiley & Sons Ltd.