The introduction of next-generation sequencing (NGS) in the molecular diagnostic arma-mentarium is deeply changing pathology practice and laboratory frameworks. NGS allows for the comprehensive molecular characterization of neoplasms, in order to provide the best treatment to oncologic patients. On the other hand, NGS raises technical issues and poses several challenges in terms of education, infrastructures and costs. The aim of this review is to give an overview of the main NGS sequencing platforms that can be used in current molecular diagnostics and gain insights into the clinical applications of NGS in precision oncology. Hence, we also focus on the preanalytical, analytical and interpretative issues raised by the incorporation of NGS in routine pathology diagnostics.

FFPE-Based NGS Approaches into Clinical Practice: The Limits of Glory from a Pathologist Viewpoint / F. Cappello, V. Angerilli, G. Munari, C. Ceccon, M. Sabbadin, F. Pagni, N. Fusco, U. Malapelle, M. Fassan. - In: JOURNAL OF PERSONALIZED MEDICINE. - ISSN 2075-4426. - 12:5(2022 May), pp. 750.1-750.18. [10.3390/jpm12050750]

FFPE-Based NGS Approaches into Clinical Practice: The Limits of Glory from a Pathologist Viewpoint

N. Fusco;
2022

Abstract

The introduction of next-generation sequencing (NGS) in the molecular diagnostic arma-mentarium is deeply changing pathology practice and laboratory frameworks. NGS allows for the comprehensive molecular characterization of neoplasms, in order to provide the best treatment to oncologic patients. On the other hand, NGS raises technical issues and poses several challenges in terms of education, infrastructures and costs. The aim of this review is to give an overview of the main NGS sequencing platforms that can be used in current molecular diagnostics and gain insights into the clinical applications of NGS in precision oncology. Hence, we also focus on the preanalytical, analytical and interpretative issues raised by the incorporation of NGS in routine pathology diagnostics.
biomarkers; diagnostics; NGS; precision medicine
Settore MED/08 - Anatomia Patologica
mag-2022
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/927789
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