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帕博利珠单抗和阿昔替尼治疗伴奥瑞珠单抗治疗后多发性硬化的肉瘤样肾细胞癌患者达到完全病理缓解。

Complete Pathologic Response to Pembrolizumab and Axitinib in a Patient With Sarcomatoid RCC and Ocrelizumab-Treated Multiple Sclerosis.

机构信息

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.

出版信息

Urology. 2022 Jun;164:50-54. doi: 10.1016/j.urology.2021.12.015. Epub 2021 Dec 29.

Abstract

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.

摘要

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。

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