Precision oncology requires standardized and clinically meaningful reporting of molecular test results to support therapeutic decision-making. Next-generation sequencing (NGS), increasingly used in routine diagnostics, must be accompanied by clear, structured, and up-to-date interpretative reports. This document provides updated guidance for the anno-tation, interpretation, and reporting of variants detected through NGS, encompassing both small targeted panels and large-scale comprehensive genomic profiling (CGP) assays. Emphasis is placed on structured reporting, clinical applicability, and harmonization across institutions. The recommendations also address critical aspects of quality assurance, stan-dardization for both tissue and liquid biopsy samples, with the aim to streamline molecular report generation, improve multidisciplinary communication, and facilitate the integration of NGS into everyday oncology practice in Italy.

Part III – Post-analytical phase / S. Buglioni, F. Pagni, N. Fusco, G. Pruneri, U. Malapelle, K. Venetis, C. Marchiò, F. Natoni, D. Seminati, R. Bruno, Casini, V. Gristina, Guerini-Rocco, C. Lauricella, M. Iole Natalicchio, F. Pepe, G. Passina, G. Tallini, S. Scarpino. - In: PATHOLOGICA. - ISSN 1591-951X. - 117:2 Supplement 1(2025 Sep 05), pp. S36-S61. [10.32074/1591-951X-1217]

Part III – Post-analytical phase

N. Fusco
;
G. Pruneri;
2025

Abstract

Precision oncology requires standardized and clinically meaningful reporting of molecular test results to support therapeutic decision-making. Next-generation sequencing (NGS), increasingly used in routine diagnostics, must be accompanied by clear, structured, and up-to-date interpretative reports. This document provides updated guidance for the anno-tation, interpretation, and reporting of variants detected through NGS, encompassing both small targeted panels and large-scale comprehensive genomic profiling (CGP) assays. Emphasis is placed on structured reporting, clinical applicability, and harmonization across institutions. The recommendations also address critical aspects of quality assurance, stan-dardization for both tissue and liquid biopsy samples, with the aim to streamline molecular report generation, improve multidisciplinary communication, and facilitate the integration of NGS into everyday oncology practice in Italy.
Pathology; comprehensive genomic profiling; molecular reporting; next generation sequencing (NGS); recommendations;
Settore MEDS-04/A - Anatomia patologica
Settore MEDS-09/A - Oncologia medica
5-set-2025
apr-2025
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/1247728
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