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肺癌中可操作基因融合检测的方法:现状与未来。

Methods for actionable gene fusion detection in lung cancer: now and in the future.

作者信息

Pisapia Pasquale, Pepe Francesco, Sgariglia Roberta, Nacchio Mariantonia, Russo Gianluca, Gragnano Gianluca, Conticelli Floriana, Salatiello Maria, De Luca Caterina, Girolami Ilaria, Eccher Albino, Iaccarino Antonino, Bellevicine Claudio, Vigliar Elena, Malapelle Umberto, Troncone Giancarlo

机构信息

Department of Public Health, University of Naples Federico II, Naples, Italy.

Division of Pathology, Central Hospital Bolzano, Bolzano, Italy.

出版信息

Pharmacogenomics. 2021 Aug;22(13):833-847. doi: 10.2217/pgs-2021-0048. Epub 2021 Sep 16.

Abstract

Although gene fusions occur rarely in non-small-cell lung cancer (NSCLC) patients, they represent a relevant target in treatment decision algorithms. To date, immunohistochemistry and fluorescence hybridization are the two principal methods used in clinical trials. However, using these methods in routine clinical practice is often impractical and time consuming because they can only analyze single genes and the quantity of tissue material is often insufficient. Thus, novel technologies, able to test multiple genes in a single run with minimal sample input, are being under investigation. Here, we discuss the utility of next-generation sequencing and nCounter technologies in detecting simultaneous gene fusions in NSCLC patients.

摘要

尽管基因融合在非小细胞肺癌(NSCLC)患者中很少见,但它们在治疗决策算法中是一个相关靶点。迄今为止,免疫组织化学和荧光杂交是临床试验中使用的两种主要方法。然而,在常规临床实践中使用这些方法通常不切实际且耗时,因为它们只能分析单个基因,而且组织材料的数量往往不足。因此,能够在一次运行中以最少的样本输入检测多个基因的新技术正在研究中。在这里,我们讨论下一代测序和nCounter技术在检测NSCLC患者同时发生的基因融合中的效用。

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