# 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.

## Key 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.