Guidelines

Vol. 117: Issue 2 - Suppl. 1 April 2025

Part III – Post-analytical phase

Authors

Simonetta Buglioni , Davide Seminati , Rossella Bruno , Beatrice Casini , Valerio Gristina , Elena Guerini-Rocco , Calogero Lauricella , Caterina Marchiò , Maria Iole Natalicchio , Fancesco Pepe , Gloria Pessina , Stefania Scarpino , Giovanni Tallini , Konstantinos Venetis , Umberto Malapelle , Fabio Pagni , Giancarlo Pruneri , Nicola Fusco

Key words: Pathology, recommendations, molecular reporting, next-generation sequencing (NGS), comprehensive genomic profiling
Publication Date: 2025-05-09

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 annotation, 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, standardization 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.

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Authors

Simonetta Buglioni - IFO

Davide Seminati - San Gerardo Hospital https://orcid.org/0000-0002-2166-301X

Rossella Bruno - Pisa Hospital

Beatrice Casini - IFO https://orcid.org/0000-0002-9038-0179

Valerio Gristina - University of Palermo,

Elena Guerini-Rocco - IEO

Calogero Lauricella - ASST Grande Ospedale Metropolitano Niguarda, Milan https://orcid.org/0000-0003-4815-3359

Caterina Marchiò - Candiolo

Maria Iole Natalicchio - Hospital-University, Foggia, Italy https://orcid.org/0009-0000-1920-7405

Fancesco Pepe - Federico II https://orcid.org/0000-0002-2803-9586

Gloria Pessina - ASL Viterbo https://orcid.org/0000-0003-3315-4762

Stefania Scarpino - Sapienza https://orcid.org/0009-0009-9668-9626

Giovanni Tallini - University of Bologna

Konstantinos Venetis - IEO https://orcid.org/0000-0002-0163-879X

Umberto Malapelle - Federico II https://orcid.org/0000-0003-3211-9957

Fabio Pagni - Bicocca

Giancarlo Pruneri - Tumori Milano

Nicola Fusco - European Institute of Oncology

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Copyright

Copyright (c) 2025 Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology

How to Cite
Buglioni, S., Seminati, D., Bruno, R., Casini, B., Gristina, V., Guerini-Rocco, E., Lauricella, C., Marchiò, C., Natalicchio, M. I., Pepe, F., Pessina, G., Scarpino, S., Tallini, G., Venetis, K., Malapelle, U., Pagni, F., Pruneri, G., & Fusco, N. (2025). Part III – Post-analytical phase. Pathologica - Journal of the Italian Society of Anatomic Pathology and Diagnostic Cytopathology, 117(2 (Suppl. 1). Retrieved from https://www.pathologica.it/article/view/1217
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