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遗传不稳定性与突变负荷增加:哪种诊断工具能最佳地指导癌症患者接受免疫治疗?

Genetic instability and increased mutational load: which diagnostic tool best direct patients with cancer to immunotherapy?

作者信息

Palmieri Giuseppe, Colombino Maria, Cossu Antonio, Marchetti Antonio, Botti Gerardo, Ascierto Paolo A

机构信息

Unit of Cancer Genetics, Institute of Biomolecular Chemistry-National Research Council (ICB-CNR), Traversa La Crucca 3, Baldinca Li Punti, 07100, Sassari, Italy.

Institute of Pathology, Azienda Ospedaliero Universitaria (AOU), Sassari, Italy.

出版信息

J Transl Med. 2017 Jan 21;15(1):17. doi: 10.1186/s12967-017-1119-6.

Abstract

The occurrence of high rates of somatic mutations in cancer is believed to correspond to increased frequency of neo-epitope formation and tumor immunogenicity. Thus, classification of patients with cancer according to degree a somatic hyper-mutational status could be proposed as a predictive biomarker of responsiveness to immunotherapy with immune checkpoint inhibitors. Here, we discuss the suitable and reliable tests easily adoptable in clinical practice to assess somatic mutational status in patients with advanced cancer.

摘要

癌症中高频率体细胞突变的发生被认为与新抗原形成频率增加和肿瘤免疫原性增强相对应。因此,根据体细胞高突变状态对癌症患者进行分类,可作为免疫检查点抑制剂免疫治疗反应性的预测生物标志物。在此,我们讨论在临床实践中易于采用的合适且可靠的检测方法,以评估晚期癌症患者的体细胞突变状态。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2aec/5251272/7efc093e9d33/12967_2017_1119_Fig1_HTML.jpg

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