AUTHOR=Wang Weibo , Yin Shuiping , Xu Dandan , Tai Supeng , Cheng Xi , Chang Yifan , Fu Yao , Zhou Jun 

TITLE=Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma

JOURNAL=Frontiers in Oncology

VOLUME=Volume 15 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2025.1614796

DOI=10.3389/fonc.2025.1614796

ISSN=2234-943X

ABSTRACT=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.