Clinical Institute of Pathology, University Hospital St. Poelten, Karl Landsteiner University of Health Sciences, 3100 St. Pölten, Austria.
Department Life Sciences, IMC University of Applied Sciences Krems, 3500 Krems, Austria.
Int J Mol Sci. 2019 Feb 5;20(3):690. doi: 10.3390/ijms20030690.
The mTOR pathway is in the process of establishing itself as a key access-point of novel oncological drugs and targeted therapies. This is also reflected by the growing number of mTOR pathway genes included in commercially available next-generation sequencing (NGS) oncology panels. This review summarizes the portfolio of medium sized diagnostic, as well as research destined NGS panels and their coverage of the mTOR pathway, including 16 DNA-based panels and the current gene list of Foundation One as a major reference entity. In addition, we give an overview of interesting, mTOR-associated somatic mutations that are not yet incorporated. Especially eukaryotic translation initiation factors (eIFs), a group of mTOR downstream proteins, are on the rise as far as diagnostics and drug targeting in precision medicine are concerned. This review aims to raise awareness for the true coverage of NGS panels, which should be valuable in selecting the ideal platform for diagnostics and research.
mTOR 通路正在成为新型肿瘤药物和靶向治疗的关键切入点，这一点也反映在越来越多的 mTOR 通路基因被纳入商业性下一代测序（NGS）肿瘤panel 中。本综述总结了中等规模的诊断用和研究用 NGS panel 及其对 mTOR 通路的覆盖范围，包括 16 个基于 DNA 的 panel 和 FoundationOne 的当前基因列表，该列表作为主要的参考实体。此外，我们还概述了一些尚未纳入的与 mTOR 相关的有趣体细胞突变。特别是真核翻译起始因子（eIFs），作为 mTOR 下游蛋白的一个群组，在精准医学的诊断和药物靶向方面日益受到关注。本综述旨在提高对 NGS panel 实际覆盖范围的认识，这对于选择理想的诊断和研究平台具有重要价值。
