Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, OH.
Department of Anatomic Pathology, Robert J. Tomsich Pathology and Laboratory and Medicine Institute, Cleveland Clinic, Cleveland, OH.
Urology. 2021 Feb;148:113-117. doi: 10.1016/j.urology.2020.11.024. Epub 2020 Nov 21.
PTEN Hamartoma-Tumor-Syndrome (PHTS) describes a series of conditions characterized by germline-mutation of the PTEN tumor-suppressor gene. PHTS patients have an increased lifetime risk of multiple malignancies, including thyroid, breast, and endometrial cancers. PHTS patients also have 20-30 fold increased risk of renal cell carcinoma (RCC) compared to age-matched controls. As with many hereditary RCC syndromes, tumors present early and multifocally. We present a case of one of the youngest patients diagnosed with RCC in PHTS and review the urologic implications of this syndrome.
PTEN 错构瘤-肿瘤综合征 (PHTS) 描述了一系列以 PTEN 肿瘤抑制基因胚系突变为特征的病症。PHTS 患者一生中多种恶性肿瘤的风险增加，包括甲状腺癌、乳腺癌和子宫内膜癌。与年龄匹配的对照组相比，PHTS 患者的肾细胞癌 (RCC) 风险增加 20-30 倍。与许多遗传性 RCC 综合征一样，肿瘤早期且多灶性出现。我们报告了 PHTS 中诊断为 RCC 的最年轻患者之一，并回顾了该综合征的泌尿外科意义。
