转移性SMARCB1缺陷型肾髓质癌，无血红蛋白病，对帕博利珠单抗联合乐伐替尼有持久显著反应：病例报告

Metastatic SMARCB1-Deficient Renal Medullary Carcinoma without Hemoglobinopathy with Durable and Dramatic Response to Pembrolizumab plus Lenvatinib: Case Report.

作者信息

McCamy William, Yousefiasl Maryam, Tretiakova Maria, Jagtiani Minal, Hall Evan

机构信息

Department of Medicine, Division of Medical Oncology, University of Washington, Seattle, WA, USA.

Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.

出版信息

Case Rep Oncol. 2024 Sep 17;17(1):1025-1033. doi: 10.1159/000540937. eCollection 2024 Jan-Dec.

DOI:10.1159/000540937

PMID:39474526

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11521492/

Abstract

INTRODUCTION

Renal medullary carcinoma (RMC) is a rare form of renal cell carcinoma (RCC) that is typically associated with a loss of function in SMARCB1 and diagnosis of sickle cell or other hemoglobinopathy. In rare cases, this disease can be seen in patients without hemoglobinopathy and is classified as "SMARCB1-deficient RMC without hemoglobinopathy" or referred to as "RCC unclassified with medullary phenotype" in some of the literature. Platinum-based cytotoxic chemotherapy is currently the recommended first-line treatment for this rare disease.

CASE PRESENTATION

Here we report a 53-year-old male who was diagnosed with metastatic SMARCB1-deficient RMC without hemoglobinopathy after presenting with left flank and abdominal pain. After initiating first-line pembrolizumab and lenvatinib systemic therapy, imaging showed regression at 6 weeks. To date, this patient continues to show a near complete response to this treatment regimen.

CONCLUSION

To our knowledge, this is the first documented case of SMARCB1-deficient RMC without hemoglobinopathy to receive this treatment regimen and show such a response.

摘要

引言

肾髓质癌（RMC）是一种罕见的肾细胞癌（RCC），通常与SMARCB1功能丧失以及镰状细胞或其他血红蛋白病的诊断相关。在罕见情况下，这种疾病可在无血红蛋白病的患者中出现，在某些文献中被归类为“无血红蛋白病的SMARCB1缺陷型RMC”，或被称为“具有髓质表型的未分类RCC”。基于铂的细胞毒性化疗目前是这种罕见疾病推荐的一线治疗方法。