Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Department of Public Health, University of Naples Federico II, Via Sergio Pansini 5, 80131, Naples, Italy.
Virchows Arch. 2019 Jul;475(1):3-11. doi: 10.1007/s00428-019-02559-z. Epub 2019 Mar 15.
In recent years, cytopathology has established itself as an independent diagnostic modality to guide clinical management in many different settings. The application of molecular techniques to cytological samples to identify prognostic and predictive biomarkers has played a crucial role in achieving this goal. While earlier studies have demonstrated that single biomarker testing is feasible on cytological samples, currently, this provides only limited and increasingly insufficient information in an era where an increasing number of biomarkers are required to guide patient care. More recently, multigene mutational assays, such as next-generation sequencing (NGS), have gained popularity because of their ability to provide genomic information on multiple genes. The cytopathologist plays a key role in ensuring success of NGS in cytological samples by influencing the pre-analytical steps, optimizing preparation types and adequacy requirement in terms of cellularity and tumor fraction, and ensuring optimal nucleic acid extraction for DNA input requirements. General principles of the role and potential of NGS in molecular cytopathology in the universal healthcare (UHC) European environment and examples of principal clinical applications were discussed in the workshop that took place at the 30th European Congress of Pathology in Bilbao, European Society of Pathology, whose content is here comprehensively described.
近年来，细胞病理学已成为一种独立的诊断方式，在许多不同的环境中为临床管理提供指导。将分子技术应用于细胞学样本，以识别预后和预测生物标志物，在实现这一目标方面发挥了关键作用。虽然早期的研究已经证明对细胞学样本进行单个生物标志物检测是可行的，但在当前，随着越来越多的生物标志物需要指导患者护理，这种方法提供的信息越来越有限，而且越来越不充分。最近，多基因突变检测方法，如下一代测序（NGS），因其能够提供多个基因的基因组信息而受到欢迎。细胞病理学家通过影响分析前步骤、优化制备类型和细胞数量及肿瘤比例的充分性要求，以及确保用于 DNA 输入要求的最佳核酸提取，在确保 NGS 在细胞学样本中的成功方面发挥着关键作用。在毕尔巴鄂举行的第 30 届欧洲病理学大会上的欧洲病理学会（European Society of Pathology）研讨会上讨论了 NGS 在普遍医疗保健（UHC）欧洲环境中的分子细胞病理学中的作用和潜力的一般原则，以及主要临床应用的实例，这里全面描述了其内容。
