实体肿瘤的分子检测:来自意大利病理学会(PMMP/SIAPeC)分子病理学和精准医学研究组的最佳实践。

IF 2.9 Q1 PATHOLOGY
Nicola Fusco, Giancarlo Pruneri, Fabio Pagni, Umberto Malapelle
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引用次数: 0

摘要

意大利病理学会分子病理学和精准医学研究组(PMMP/SIAPeC)发布了一套由三部分组成的最佳实践指南,以标准化和加强实体肿瘤的分子检测。第一部分侧重于分析前阶段,强调适当的组织处理和质量控制,以保持核酸的完整性。第二部分介绍了分析阶段,概述了下一代测序(NGS)的工作流程,从提取到变异解释,并提供了选择平台,基因面板和生物信息学的建议。第三部分涵盖分析后阶段,提供结构化的、有临床意义的报告指导,以支持治疗决策,包括组织和液体活检的标准。总之,这些文件旨在协调分子诊断,确保可靠,高质量的结果,支持精确肿瘤学。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Molecular Testing in Solid Tumors: Best Practices from the Molecular Pathology and Precision Medicine Study Group of the Italian Society of Pathology (PMMP/SIAPeC).

The Italian Society of Pathology's Molecular Pathology and Precision Medicine Study Group (PMMP/SIAPeC) has released a three-part set of best practice guidelines to stan-dardize and enhance molecular testing in solid tumors. Part I focuses on the pre-analytical phase, emphasizing proper tissue handling and quality control to preserve nucleic acid integrity. Part II addresses the analytical phase, outlining workflows for next-generation sequencing (NGS), from extraction to variant interpretation, with recommendations on choice of platform, gene panels, and bioinformatics. Part III covers the post-analytical phase, offering guidance on structured, clinically meaningful reporting to support thera-peutic decisions, including standards for both tissue and liquid biopsies. Together, these documents aim to harmonize molecular diagnostics, ensuring reliable, high-quality results that support precision oncology.

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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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