Next generation sequencing in cytology

作者：Pasquale Pisapia, Francesco Pepe, Roberta Sgariglia, Mariantonia Nacchio, Gianluca Russo, Floriana Conticelli, Ilaria Girolami, Albino Eccher, Claudio Bellevicine, Elena Vigliar, Umberto Malapelle, Giancarlo Troncone · 发表于：Cytopathology · 年份：2021 · DOI：10.1111/cyt.12974 · 被引用次数：75 · 研究领域：Cancer Genomics and Diagnostics、Genomics and Phylogenetic Studies、Pancreatic and Hepatic Oncology Research

The application of next generation sequencing (NGS) technology to cytological samples has significantly modified molecular cytopathology practice. Cytological samples represent a valid source of high-quality DNA for NGS analysis, especially for predicting patients' response to targeted treatments and for refining the risk of malignancy in indeterminate cytological diagnoses. However, several pre-analytical factors may influence the reliability of NGS clinical analysis. Here, we briefly review the challenges of NGS in cytology practice, focusing on those pre-analytical factors that may negatively affect NGS success rates and routine diagnostic applications. Finally, we address the future directions of the field.