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

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.

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.

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