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.
Next generation sequencing in cytology / Pisapia, P., Pepe, F., Sgariglia, R., Nacchio, M., Russo, G., Conticelli, F., Girolami, I., Eccher, A., Bellevicine, C., Vigliar, E., Malapelle, U., Troncone, G.. - In: CYTOPATHOLOGY. - ISSN 0956-5507. - (2021). [10.1111/cyt.12974]
Next generation sequencing in cytology
Pisapia, Pasquale;Pepe, Francesco;Sgariglia, Roberta;Nacchio, Mariantonia;Russo, Gianluca;Conticelli, Floriana;Bellevicine, Claudio;Vigliar, Elena;Malapelle, Umberto;Troncone, Giancarlo
2021
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
