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在胸腔积液中发现的伴有EGFR 19del突变的转移性INI-1缺陷型未分化肺癌:病例报告及文献复习

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

作者信息

Guo Zhen, Li Tianyuan, Duan Xiufang

机构信息

Department of Radiation Oncology, Liaocheng People's Hospital, Liaocheng, Shandong, China.

Department of Respiratory, Shenxian People's Hospital, Liaocheng, Shandong, China.

出版信息

Front Oncol. 2025 Apr 11;15:1539309. doi: 10.3389/fonc.2025.1539309. eCollection 2025.

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.

摘要

INI-1是开关/蔗糖非发酵(SWI/SNF)复合物的核心组成部分,这是一种依赖ATP的染色质重塑复合物,在DNA修复、转录调控和细胞分化中起关键作用。由INI-1失活驱动的胸内肿瘤极为罕见。本报告介绍了首例有记录的转移性INI-1缺陷型未分化肺癌病例,该病例同时存在表皮生长因子受体(EGFR)外显子19缺失突变。描述了该肿瘤的临床和病理特征,随后对相关文献进行了全面综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41c0/12021797/a9a7f48fc84d/fonc-15-1539309-g001.jpg

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