文章：

临床下一代测序技术在间皮瘤中的应用：大海捞针寻金针

Clinical Next Generation Sequencing Application in Mesothelioma: Finding a Golden Needle in the Haystack

原文发布日期：6 December 2023

DOI: 10.3390/cancers15245716

类型: Article

开放获取: 是

英文摘要：

Mesothelioma comprises a group of rare cancers arising from the mesothelium of the pleura, peritoneum, tunica vaginalis testis and pericardium. Mesothelioma is generally associated with asbestos exposure and has a dismal prognosis, with few therapeutic options. Several next generation sequencing (NGS) experiments have been performed on mesothelioma arising at different sites. These studies highlight a genomic landscape mainly characterized by a high prevalence (>20%) of genomic aberrations leading to functional losses in oncosuppressor genes such as BAP1, CDKN2A, NF2, SETD2 and TP53. Nevertheless, to date, evidence of the effect of targeting these alterations with specific drugs is lacking. Conversely, 1–2% of mesothelioma might harbor activating mutations in oncogenes with specifically approved drugs. The goal of this review is to summarize NGS applications in mesothelioma and to provide insights into target therapy of mesothelioma guided by NGS.

摘要翻译： 

间皮瘤是一组起源于胸膜、腹膜、睾丸鞘膜及心包膜间皮细胞的罕见恶性肿瘤。该疾病通常与石棉暴露相关，预后极差且治疗选择有限。目前已在不同部位的间皮瘤中开展了多项新一代测序研究，这些研究揭示其基因组特征主要表现为高频（>20%）基因组异常导致BAP1、CDKN2A、NF2、SETD2和TP53等抑癌基因功能丧失。然而迄今为止，针对这些基因改变使用特异性靶向药物的疗效证据尚不充分。值得注意的是，约1-2%的间皮瘤可能存在致癌基因激活突变，且已有相应获批药物。本文旨在综述新一代测序技术在间皮瘤中的应用进展，并探讨基于测序指导的间皮瘤靶向治疗策略。

原文链接：

Clinical Next Generation Sequencing Application in Mesothelioma: Finding a Golden Needle in the Haystack