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SMARCA4 作为一种支持鉴别诊断低分化肺癌的标志物。

SMARCA4 as a support for the differential diagnosis of poorly differentiated lung carcinomas.

机构信息

Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy.

Unit of Pathological Anatomy, University Hospital of Pisa, Pisa, Italy.

出版信息

Pathologica. 2023 Jun;115(3):164-171. doi: 10.32074/1591-951X-847.

DOI:10.32074/1591-951X-847
PMID:37387441
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10462990/
Abstract

Among non-small cell lung cancers (NSCLCs), sarcomatoid carcinomas account for 3%. They are rare tumours with a poor prognosis, classified into three subgroups, namely pleomorphic carcinoma, pulmonary blastoma and carcinosarcoma. In the 5th edition of WHO Classification of Thoracic Tumours more space is given to SMARC4-deficient lung cancers. Although studies on SMARCA4-deficient lung tumours are limited, a small percentage of SMARCA4 loss is present within NSCLCs. This finding is clinically relevant, as the loss of the SMARCA4 gene is associated with a worse prognosis. In our study, we analysed the presence of the main catalytic subunit of the SMARCA4 gene, the BRG1 protein, in 60 sarcomatoid lung tumours. The results of our study show that 5.3% of sarcomatoid carcinomas have BRG1-loss in tumour cells, proving that a non-negligible amount of lung sarcomatoid carcinomas are SMARCA4-deficient. These data open the debate on the necessity of including the detection of SMARCA4 within a standardised immunohistochemical panel.

摘要

在非小细胞肺癌(NSCLC)中,肉瘤样癌占 3%。它们是罕见的肿瘤,预后不良,分为三个亚组,即多形性癌、肺胚细胞瘤和癌肉瘤。在第 5 版世界卫生组织(WHO)胸部肿瘤分类中,对 SMARC4 缺失型肺癌给予了更多关注。尽管对 SMARCA4 缺失型肺肿瘤的研究有限,但在 NSCLC 中存在一小部分 SMARCA4 缺失。这一发现具有重要的临床意义,因为 SMARCA4 基因的缺失与预后不良相关。在我们的研究中,我们分析了 60 例肉瘤样肺癌中 SMARCA4 基因的主要催化亚基 BRG1 蛋白的存在情况。我们的研究结果表明,5.3%的肉瘤样癌在肿瘤细胞中存在 BRG1 缺失,证明相当数量的肺肉瘤样癌是 SMARCA4 缺失型的。这些数据引发了关于是否需要在标准化免疫组织化学面板中纳入 SMARCA4 检测的争论。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bd6/10462990/a43821be0706/pathol-2023-03-164-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bd6/10462990/be1b94232e26/pathol-2023-03-164-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bd6/10462990/a43821be0706/pathol-2023-03-164-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bd6/10462990/be1b94232e26/pathol-2023-03-164-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bd6/10462990/a43821be0706/pathol-2023-03-164-g002.jpg

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2
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J Am Soc Cytopathol. 2022 Jul-Aug;11(4):183-193. doi: 10.1016/j.jasc.2022.04.001. Epub 2022 Apr 6.
3
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Mol Biol Rep. 2024 Jun 14;51(1):752. doi: 10.1007/s11033-024-09607-1.
4
Role of immunotherapy in pulmonary sarcomatoid carcinoma: review of current approaches and related biomarkers.免疫疗法在肺肉瘤样癌中的作用:当前方法及相关生物标志物综述
Ther Adv Med Oncol. 2024 May 6;16:17588359241249041. doi: 10.1177/17588359241249041. eCollection 2024.
扩展 SMARCA4 缺陷型非小细胞肺癌的免疫表型谱:伴有神经内分泌标志物表达的病例系列。
Int J Surg Pathol. 2022 May;30(3):251-259. doi: 10.1177/10668969211047982. Epub 2021 Oct 11.
4
The genomic and immunologic profiles of pure pulmonary sarcomatoid carcinoma in Chinese patients.中国患者纯肺肉瘤样癌的基因组和免疫特征。
Lung Cancer. 2021 Mar;153:66-72. doi: 10.1016/j.lungcan.2021.01.006. Epub 2021 Jan 9.
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