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临床下一代测序在间皮瘤中的应用:大海捞针

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

作者信息

Cerbone Luigi, Orecchia Sara, Bertino Pietro, Delfanti Sara, de Angelis Antonina Maria, Grosso Federica

机构信息

Mesothelioma Unit, SS Antonio e and Biagio Hospital, 15121 Alessandria, Italy.

Molecular Pathology Unit, SS Antonio e and Biagio Hospital, 15121 Alessandria, Italy.

出版信息

Cancers (Basel). 2023 Dec 6;15(24):5716. doi: 10.3390/cancers15245716.

Abstract

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

间皮瘤是一组起源于胸膜、腹膜、睾丸鞘膜和心包膜间皮的罕见癌症。间皮瘤通常与接触石棉有关,预后不佳,治疗选择有限。已经对不同部位发生的间皮瘤进行了多项二代测序(NGS)实验。这些研究突出了一种基因组格局,其主要特征是导致肿瘤抑制基因如BAP1、CDKN2A、NF2、SETD2和TP53功能丧失的基因组畸变发生率很高(>20%)。然而,迄今为止,缺乏用特定药物靶向这些改变的效果的证据。相反,1%-2%的间皮瘤可能在癌基因中存在激活突变,并有专门批准的药物。本综述的目的是总结NGS在间皮瘤中的应用,并深入探讨由NGS指导的间皮瘤靶向治疗。

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本文引用的文献

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