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

TL;DR

This case report describes the first documented adult case of SMARCA4-deficient renal cell carcinoma, a rare and aggressive cancer with poor outcomes.

Contribution

The paper presents the first documented case of SMARCA4-deficient renal cell carcinoma in an adult, offering new clinical insights.

Findings

The tumor showed sarcomatoid and rhabdomyoblastic differentiation and was resistant to standard therapies.

The case highlights the aggressive clinical behavior and poor prognosis associated with SMARCA4-deficient tumors.

Comprehensive analysis of clinical, pathological, imaging, and genetic data is provided for this rare malignancy.

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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