第三部分-分析后阶段。

IF 2.9 Q1 PATHOLOGY
Simonetta Buglioni, Davide Seminati, Rossella Bruno, Beatrice Casini, Valerio Gristina, Elena Guerini-Rocco, Calogero Lauricella, Caterina Marchiò, Maria Iole Natalicchio, Francesco Pepe, Gloria Pessina, Stefania Scarpino, Giovanni Tallini, Konstantinos Venetis, Umberto Malapelle, Fabio Pagni, Giancarlo Pruneri, Nicola Fusco
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引用次数: 0

摘要

精确肿瘤学需要标准化和有临床意义的分子检测结果报告,以支持治疗决策。新一代测序(NGS)越来越多地用于常规诊断,必须伴随清晰、结构化和最新的解释性报告。本文档为通过NGS检测到的变异的注释、解释和报告提供了更新的指南,包括小目标面板和大规模综合基因组分析(CGP)分析。重点放在结构化报告、临床适用性和跨机构的协调上。这些建议还涉及质量保证、组织和液体活检样本标准化的关键方面,旨在简化分子报告生成,改善多学科交流,并促进将NGS整合到意大利的日常肿瘤学实践中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Part III - Post-analytical phase.

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.

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来源期刊
PATHOLOGICA
PATHOLOGICA PATHOLOGY-
CiteScore
5.90
自引率
5.70%
发文量
108
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