Cappello Filippo, Angerilli Valentina, Munari Giada, Ceccon Carlotta, Sabbadin Marianna, Pagni Fabio, Fusco Nicola, Malapelle Umberto, Fassan Matteo
Department of Medicine (DIMED), University of Padua, 35128 Padua, Italy.
Veneto Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 35128 Padua, Italy.
J Pers Med. 2022 May 5;12(5):750. doi: 10.3390/jpm12050750.
The introduction of next-generation sequencing (NGS) in the molecular diagnostic armamentarium is deeply changing pathology practice and laboratory frameworks. NGS allows for the comprehensive molecular characterization of neoplasms, in order to provide the best treatment to oncologic patients. On the other hand, NGS raises technical issues and poses several challenges in terms of education, infrastructures and costs. The aim of this review is to give an overview of the main NGS sequencing platforms that can be used in current molecular diagnostics and gain insights into the clinical applications of NGS in precision oncology. Hence, we also focus on the preanalytical, analytical and interpretative issues raised by the incorporation of NGS in routine pathology diagnostics.
新一代测序（NGS）引入分子诊断手段正在深刻改变病理学实践和实验室框架。NGS能够对肿瘤进行全面的分子特征分析，以便为肿瘤患者提供最佳治疗。另一方面，NGS引发了技术问题，并在教育、基础设施和成本方面带来了诸多挑战。本综述的目的是概述当前分子诊断中可使用的主要NGS测序平台，并深入了解NGS在精准肿瘤学中的临床应用。因此，我们还关注将NGS纳入常规病理诊断所引发的分析前、分析中和解释方面的问题。
