Department of Public Health, University of Naples Federico II, Naples, Italy.
Division of Pathology, Central Hospital Bolzano, Bolzano, Italy.
Cytopathology. 2021 Sep;32(5):588-595. doi: 10.1111/cyt.12974. Epub 2021 Apr 1.
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.
下一代测序（NGS）技术在细胞学样本中的应用极大地改变了分子细胞病理学的实践。细胞学样本是进行 NGS 分析的高质量 DNA 的有效来源，特别是对于预测患者对靶向治疗的反应以及细化不确定细胞学诊断的恶性肿瘤风险。然而，一些分析前因素可能会影响 NGS 临床分析的可靠性。在这里，我们简要回顾了 NGS 在细胞学实践中面临的挑战，重点介绍了那些可能会降低 NGS 成功率和常规诊断应用的分析前因素。最后，我们探讨了该领域的未来发展方向。
