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

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.

Object Details

• Location: Deutsche Nationalbibliothek Frankfurt am Main
• Extent: Online-Ressource
• Language: Englisch

References and Relationships

• Bibliographic citation: Metastatic SMARCB1-Deficient Renal Medullary Carcinoma without Hemoglobinopathy with Durable and Dramatic Response to Pembrolizumab plus Lenvatinib: Case Report ; volume:17 ; number:1 ; year:2024 ; pages:1025-1033 ; extent:9 ; Case reports in oncology ; 17, Heft 1 (2024), 1025-1033 (gesamt 9)

Contributors, Places and Time

• Creator: McCamy, William ; Yousefiasl, Maryam ; Tretiakova, Maria ; Jagtiani, Minal ; Hall, Evan

Further information

• DOI: 10.1159/000540937
• URN: urn:nbn:de:101:1-2411272334506.308083311677
• Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Last update: 15.08.2025, 7:36 AM CEST