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一种罕见胸部恶性肿瘤(肺透明细胞肉瘤)的基因分子特征及免疫微环境:病例报告

Molecular Characteristics of Genes and the Immune Microenvironment of a Rare Chest Malignant Tumor (Pulmonary Clear Cell Sarcoma): A Case Report.

作者信息

Xu Xiaoling, Wang Ding, Wu Wei, Lu Hongyang

机构信息

Department of Thoracic Oncology, Cancer Hospital of the University of Chinese Academy of Sciences (Zhejiang Cancer Hospital), Hangzhou, China.

Institute of Cancer and Basic Medicine (IBMC), Chinese Academy of Sciences, Hangzhou, China.

出版信息

Front Oncol. 2021 Mar 22;11:664883. doi: 10.3389/fonc.2021.664883. eCollection 2021.

Abstract

Pulmonary clear cell sarcoma is a rare malignant tumor that has rarely been reported and is challenging to diagnose, especially when differentiating from malignant melanoma. Currently, EWSR1-ATF1 is the key marker for distinguishing clear cell sarcoma from melanoma, but IHC has diagnostic limitations. We report a patient diagnosed with pulmonary clear cell sarcoma, in which an NGS was used to help with the pathological diagnosis. The exposure to the immune microenvironment in pulmonary clear cell sarcoma suggests that TIGIT-related drugs may be a new and effective treatment for this rare disease. Immune microenvironment-related markers, including PD-L1, CD8, TIM3, LAG3, and CD163, were negatively expressed in pulmonary clear cell sarcoma.

摘要

肺透明细胞肉瘤是一种罕见的恶性肿瘤,鲜有报道,诊断具有挑战性,尤其是在与恶性黑色素瘤鉴别时。目前,EWSR1-ATF1是区分透明细胞肉瘤与黑色素瘤的关键标志物,但免疫组化存在诊断局限性。我们报告了一名被诊断为肺透明细胞肉瘤的患者,其中使用了二代测序(NGS)来辅助病理诊断。肺透明细胞肉瘤中免疫微环境的暴露表明,与TIGIT相关的药物可能是这种罕见疾病的一种新的有效治疗方法。包括PD-L1、CD8、TIM3、LAG3和CD163在内的免疫微环境相关标志物在肺透明细胞肉瘤中呈阴性表达。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b15/8019914/ae550b5134dd/fonc-11-664883-g001.jpg

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