# Metastatic INI-1−deficient undifferentiated lung cancer with EGFR 19del mutation identified in pleural effusion: a case report and review of the literature

**Authors:** Zhen Guo, Tianyuan Li, Xiufang Duan

PMC · DOI: 10.3389/fonc.2025.1539309 · 2025-04-11

## TL;DR

This case report describes a rare lung cancer with INI-1 deficiency and an EGFR mutation found in pleural fluid.

## Contribution

The first documented case of metastatic INI-1-deficient undifferentiated lung cancer with an EGFR exon 19 deletion mutation.

## Key findings

- INI-1-deficient undifferentiated lung cancer was identified in pleural effusion.
- The tumor harbored a co-occurring EGFR exon 19 deletion mutation.
- A comprehensive literature review was conducted on INI-1-deficient intrathoracic tumors.

## Abstract

INI-1 is a core component of the switch/sucrose-non-fermenting (SWI/SNF) complex, an ATP-dependent chromatin remodeling complex that plays a critical role in DNA repair, transcriptional regulation, and cellular differentiation. Intrathoracic tumors driven by INI-1 inactivation are exceptionally rare. This report presents the first documented case of metastatic INI-1-deficient undifferentiated lung cancer harboring a co-occurring epidermal growth factor receptor (EGFR) exon 19 deletion mutation. The clinical and pathological characteristics of the tumor are described, followed by a comprehensive review of the relevant literature.

## Linked entities

- **Genes:** SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1) [NCBI Gene 6598], EGFR (epidermal growth factor receptor) [NCBI Gene 1956]
- **Diseases:** lung cancer (MONDO:0005138)

## Full-text entities

- **Genes:** SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1) [NCBI Gene 6598] {aka BAF47, CSS3, INI-1, INI1, MRD15, PPP1R144}, EGFR (epidermal growth factor receptor) [NCBI Gene 1956] {aka ERBB, ERBB1, ERRP, HER1, NISBD2, NNCIS}
- **Diseases:** Intrathoracic tumors (MESH:D006045), pleural effusion (MESH:D010996), tumor (MESH:D009369)
- **Mutations:** EGFR 19del

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12021797/full.md

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Source: https://tomesphere.com/paper/PMC12021797