The Kinghorn Cancer Centre, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, NSW 2010, Australia.
Faculty of Medicine, St. Vincent's Clinical School, UNSW, St Vincent's Hospital, Victoria Street, Darlinghurst, NSW 2010, Australia.
Bioessays. 2020 Jul;42(7):e2000016. doi: 10.1002/bies.202000016. Epub 2020 Apr 19.
Fusion genes formed by chromosomal rearrangements are common drivers of cancer. Recent innovations in the field of next-generation sequencing (NGS) have seen a dynamic shift from traditional fusion detection approaches, such as visual characterization by fluorescence, to more precise multiplexed methods. There are many different NGS-based approaches to fusion gene detection and deciding on the most appropriate method can be difficult. Beyond the experimental approach, consideration needs to be given to factors such as the ease of implementation, processing time, associated costs, and the level of expertise required for data analysis. Here, the different NGS-based methods for fusion gene detection, the basic principles underlying the techniques, and the benefits and limitations of each approach are reviewed. This article concludes with a discussion of how NGS will impact fusion gene detection in a clinical context and from where the next innovations are evolving.
染色体重排形成的融合基因是癌症的常见驱动因素。近年来，下一代测序（NGS）领域的创新已经从传统的融合检测方法（如荧光可视化特征），发展到更精确的多重方法。有许多不同的基于 NGS 的融合基因检测方法，选择最合适的方法可能具有挑战性。除了实验方法外，还需要考虑诸如易于实施、处理时间、相关成本以及数据分析所需的专业水平等因素。在这里，我们回顾了用于融合基因检测的不同基于 NGS 的方法、技术的基本原理，以及每种方法的优缺点。本文最后讨论了 NGS 将如何在临床背景下影响融合基因检测，以及下一个创新点将从何处发展。
