Lee Yurimi, Oh Young Lyun
Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
J Pathol Transl Med. 2023 May;57(3):178-183. doi: 10.4132/jptm.2023.03.04. Epub 2023 Mar 30.
Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a hereditary disorder caused by germline inactivating mutations in the PTEN tumor suppressor gene. As a type of PHTS, Cowden syndrome is associated with abnormalities of the thyroid, breast, uterus, and gastrointestinal tract. A 52-year-old-woman visited the outpatient clinic of our endocrinology clinic with multiple thyroid nodules and Hashimoto's thyroiditis. Computed tomography imaging revealed a multinodular mass measuring up to 3.5 cm in the left thyroid lobe, causing laryngotracheal airway displacement. The total thyroidectomy specimen revealed multiple follicular adenomas and adenomatous nodules with lymphocytic thyroiditis and lipomatous metaplasia in the background. The patient was suspected of PTHS based on her thyroid pathology, family history, and numerous hamartomatous lesions of the breast, uterus, and skin. Her diagnosis was confirmed through molecular testing. This case demonstrates that pathologists must be well acquainted with thyroid pathology in PHTS.
磷酸酶和张力蛋白同源物（PTEN）错构瘤肿瘤综合征（PHTS）是一种由PTEN肿瘤抑制基因种系失活突变引起的遗传性疾病。作为PHTS的一种类型，考登综合征与甲状腺、乳腺、子宫和胃肠道异常有关。一名52岁女性因多发性甲状腺结节和桥本甲状腺炎就诊于我们内分泌科门诊。计算机断层扫描成像显示左甲状腺叶有一个最大直径达3.5 cm的多结节肿块，导致喉气管气道移位。全甲状腺切除标本显示有多个滤泡性腺瘤和腺瘤性结节，背景为淋巴细胞性甲状腺炎和脂肪化生。根据患者的甲状腺病理、家族史以及乳腺、子宫和皮肤的众多错构瘤样病变，怀疑其患有PHTS。通过分子检测确诊了她的病情。该病例表明，病理学家必须充分熟悉PHTS中的甲状腺病理情况。
