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1例罕见的伴有弥漫性脑转移的胸段SMARCA4缺陷型未分化肿瘤

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

作者信息

Chan Shui Ho, Dagat Lei Alena M, Latif Naeem

机构信息

Family Medicine, University of Pittsburgh Medical Center Lititz, Lititz, USA.

Internal Medicine, University of Pittsburgh Medical Center Lititz, Lititz, USA.

出版信息

Cureus. 2024 May 30;16(5):e61367. doi: 10.7759/cureus.61367. eCollection 2024 May.

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.

摘要

胸段SMARCA4缺陷型未分化肿瘤(SMARCA4-UT)是一种最近被描述的罕见且侵袭性强的恶性肿瘤,其特征为未分化的细胞形态以及与布拉马相关基因1(BRG1)蛋白的缺失。其发病机制涉及SMARCA4基因表达的突变性缺失,该基因编码BRG1蛋白,而BRG1蛋白是SWItch/蔗糖非发酵(SWI/SNF)染色质重塑复合体的催化亚基之一。这种胸部恶性肿瘤主要影响中年男性吸烟者,通常会转移至淋巴结、骨骼、肾上腺、肝脏、胃肠道、中枢神经系统和肾脏。已有脑转移病例的报道,但较为少见。我们报告了一例该肿瘤病例,一名有大量吸烟史的55岁男性最初表现为弥漫性脑转移。我们回顾了关于这种高度侵袭性胸部肿瘤所带来的诊断和治疗挑战的当前文献。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/292a/11214469/92ecb7f88db5/cureus-0016-00000061367-i01.jpg

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