Department of Urology, University of North Carolina at Chapel Hill, Chapel Hill, NC.
Department of Pathology, University of North Carolina at Chapel Hill, Chapel Hill, NC.
Urology. 2022 Jun;164:50-54. doi: 10.1016/j.urology.2021.12.015. Epub 2021 Dec 29.
Non-clear cell renal cell carcinoma (RCC) is a heterogeneous disease. We report a case of sarcomatoid non-clear cell RCC in a patient with underlying multiple sclerosis (MS) on immunosuppression with a complete pathologic response to pembrolizumab and axitinib. Comprehensive genomic profiling revealed pathogenic mutations in SETD2 and TP53 with high RNA expression levels of immune checkpoint proteins. Our case illustrates the importance of treatment selection based on presence of sarcomatoid features, underlying autoimmune disease, and genomic profiling.
非透明细胞肾细胞癌（RCC）是一种异质性疾病。我们报告了一例在免疫抑制下发生的伴多发性硬化症（MS）的肉瘤样非透明细胞 RCC 病例，患者对 pembrolizumab 和 axitinib 完全有病理反应。全面基因组分析显示 SETD2 和 TP53 存在致病性突变，免疫检查点蛋白的 RNA 表达水平较高。我们的病例说明了根据肉瘤样特征、潜在自身免疫性疾病和基因组分析选择治疗方法的重要性。
