Othman Anjum, Kumar Shiyam, Qureshi Asim, Jawa Zabah M, Burney Ikram A
Department of Medical Oncology, Sultan Qaboos Comprehensive Cancer Care and Research Center, Muscat, Oman.
Department of Medical Oncology, Yeovil District Hospital NHS Foundation Trust, Yeovil, UK.
Case Rep Oncol. 2023 Apr 14;16(1):234-242. doi: 10.1159/000528697. eCollection 2023 Jan-Dec.
Tubulocystic carcinoma of the kidney (TC-RCC) is a rare renal tumor and has been recently included as a distinct entity in WHO classification of renal neoplasms. We report the case of a patient with metastatic tubulocystic RCC whose disease progressed through standard of care treatment for nonclear RCC. However, genetic analysis revealed a germline pathogenic variant of fumarate hydratase (FH) gene, and the patient had a sustained and durable response to pazopanib.
肾管囊性癌（TC-RCC）是一种罕见的肾肿瘤，最近已被纳入世界卫生组织肾肿瘤分类中的一个独立实体。我们报告了一例转移性肾管囊性癌患者的病例，其疾病在接受非透明性肾细胞癌的标准治疗后仍进展。然而，基因分析发现了富马酸水合酶（FH）基因的种系致病性变异，该患者对帕唑帕尼有持续且持久的反应。
