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

病例报告:SMARCA4缺陷型肾细胞癌的识别与治疗

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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.

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