Detalle Publicación

ARTÍCULO
TargetPlex FFPE-Direct DNA Library Preparation Kit for SiRe NGS panel: an international performance evaluation study
Autores: Malapelle, U.; Pepe, F.; Pisapia, P.; Sgariglia, R.; Nacchio, M.; Barberis, M.; Bilh, M.; Bubendorf, L.; Buettner, R.; Cabibi, D.; Castiglia, M.; De Andrea, Carlos Eduardo; de Biase, D.; Dumur, C. I.; Fontanini, G.; Freire, J.; Gristina, V.; Hofman, P.; Ilie, M.; Lozano Escario, María Dolores; Merkelbach-Bruse, S.; Pappesch, R.; Pelusi, N.; Roma, G.; Russo, A.; Savic, S.; Siemanowski, J.; Tallini, G.; Tischler, V.; Vander Borght, S.; Weynand, B.; Xu, T.; Troncone, G. (Autor de correspondencia)
Título de la revista: JOURNAL OF CLINICAL PATHOLOGY
ISSN: 0021-9746
Volumen: 75
Número: 6
Páginas: 416 - 421
Fecha de publicación: 2022
Lugar: WOS
Resumen:
Aim Next generation sequencing (NGS) represents a key diagnostic tool to identify clinically relevant gene alterations for treatment-decision making in cancer care. However, the complex manual workflow required for NGS has limited its implementation in routine clinical practice. In this worldwide study, we validated the clinical performance of the TargetPlex FFPE-Direct DNA Library Preparation Kit for NGS analysis. Impressively, this new assay obviates the need for separate, labour intensive and time-consuming pre-analytical steps of DNA extraction, purification and isolation from formalin-fixed paraffin embedded (FFPE) specimens in the NGS workflow. Methods The TargetPlex FFPE-Direct DNA Library Preparation Kit, which enables NGS analysis directly from FFPE, was specifically developed for this study by TargetPlex Genomics Pleasanton, California. Eleven institutions agreed to take part in the study coordinated by the Molecular Cytopathology Meeting Group (University of Naples Federico II, Naples, Italy). All participating institutions received a specific Library Preparation Kit to test eight FFPE samples previously assessed with standard protocols. The analytical parameters and mutations detected in each sample were then compared with those previously obtained with standard protocols. Results Overall, 92.8% of the samples were successfully analysed with the TargetPlex FFPE-Direct DNA Library Preparation Kit on Thermo Fisher Scientific and Illumina platforms. Altogether, in comparison with the standard workflow, the TargetPlex FFPE-Direct DNA Library Preparation Kit was able to detect 90.5% of the variants. Conclusion The TargetPlex FFPE-Direct DNA Library Preparation Kit combined with the SiRe panel constitutes a convenient, practical and robust cost-saving solution for FFPE NGS analysis in routine practice.