CASE REPORT article
Front. Oncol.
Sec. Genitourinary Oncology
Case report: Recognition and management of SMARCA4-deficient renal cell carcinoma
Provisionally accepted
- 1Department of Urology, First Affiliated Hospital of Anhui Medical University, Hefei, China
- 2Anhui Medical University, Hefei, Anhui Province, China
- 3Department of Oncology, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui Province, China
- 4Department of Pathology, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui Province, China
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SMARCA4-deficient tumors represent a highly aggressive subtype of malignancy defined by the loss of SMARCA4 expression, and are associated with rapid progression and poor prognosis. We report the first documented case of SMARCA4-deficient renal cell carcinoma (RCC) in an adult (pT3aN1M1, Stage IV), characterized by sarcomatoid and rhabdomyoblastic differentiation, aggressive clinical behavior, and resistance to standard systemic therapies. This case provides a comprehensive analysis of clinical, pathological, imaging, and genetic findings, offering insights to refine diagnostic, therapeutic, and preventive strategies for this rare malignancy.
Keywords: SMARCA4-deficient tumor, Renal cell carcinoma, Sarcomatoid differentiation, Rhabdomyoblastic differentiation, germline mutation
Received: 19 Apr 2025; Accepted: 30 Oct 2025.
Copyright: © 2025 Wang, Yin, Xu, Tai, Cheng, Chang, Fu and Zhou. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Yao Fu, yao_fu@aliyun.com
Jun Zhou, urodoctorzhou@163.com
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