# A Rare Case of Thoracic SMARCA4-Deficient Undifferentiated Tumor With Diffuse Brain Metastasis

**Authors:** Shui Ho Chan, Lei Alena M Dagat, Naeem Latif

PMC · DOI: 10.7759/cureus.61367 · Cureus · 2024-05-30

## TL;DR

This paper presents a rare case of a fast-growing lung tumor that spread to the brain and discusses its challenges in diagnosis and treatment.

## Contribution

The paper reports a rare case of thoracic SMARCA4-UT presenting with diffuse brain metastasis and reviews its diagnostic and therapeutic challenges.

## Key findings

- The tumor is rare, aggressive, and often affects middle-aged male smokers.
- Brain metastasis is uncommon but possible in this type of tumor.
- The case highlights the difficulty in diagnosing and treating this malignancy.

## Abstract

Thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a recently described rare and aggressive malignancy characterized by undifferentiated cell morphology and the loss of the Brahma-related gene 1 (BRG1) protein. Its pathogenesis involves mutational loss of SMARCA4 gene expression, which encodes the BRG1 protein that serves as one of the catalytic subunits of the SWItch/Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex. This malignancy of the thorax predominantly affects middle-aged male smokers and commonly metastasizes to lymph nodes, bones, adrenal glands, liver, gastrointestinal tract, central nervous system, and kidney. Cases of brain metastasis have been reported but are less common. We report a case of this tumor initially presenting with diffuse brain metastasis in a 55-year-old male with a significant smoking history. We reviewed the current literature on the diagnostic and therapeutic challenges posed by this highly aggressive thoracic tumor.

## Linked entities

- **Genes:** SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) [NCBI Gene 6597]
- **Proteins:** SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4)

## Full-text entities

- **Genes:** SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) [NCBI Gene 6597] {aka BAF190, BAF190A, BRG1, CSS4, MRD16, OTSC12}
- **Diseases:** thoracic tumor (MESH:D013899), malignancy of the thorax (MESH:D019568), malignancy (MESH:D009369), nodes (MESH:D012804), Undifferentiated Tumor (MESH:D002277), Brain Metastasis (MESH:D009362)

## Full text

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## Figures

7 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11214469/full.md

## References

20 references — full list in the complete paper: https://tomesphere.com/paper/PMC11214469/full.md

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Source: https://tomesphere.com/paper/PMC11214469