Best practices in sample management and molecular profiling of cholangiocarcinoma: a practical guide.

IF 3.6 3区 医学 Q1 PATHOLOGY
Florian Castet, Maria Teresa Salcedo, Paolo Nuciforo, Susana Aguilar, Ana Vivancos
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引用次数: 0

Abstract

Introduction: Cholangiocarcinoma (CCA) is an uncommon yet aggressive malignancy often diagnosed at advanced stages. Its management is challenged by significant molecular heterogeneity and limited treatment options. Advances in next-generation sequencing (NGS) have identified actionable alterations, such as FGFR2 fusions, thereby facilitating a precision oncology approach for CCA management.

Areas covered: This review consolidates current evidence and expert insights on molecular profiling in CCA. It examines the histopathological subtypes and addresses diagnostic challenges associated with their diagnosis. Critical pre-analytical factors, including biopsy techniques, tissue handling, and tumor heterogeneity, are discussed in relation to their impact on molecular testing. The review also evaluates DNA-based versus RNA-based NGS methodologies, highlighting their strengths and limitations in detecting complex genomic alterations. The role of liquid biopsy as a minimally invasive tool for dynamic tumor monitoring is also explored.

Expert opinion: The routine integration of molecular profiling for CCA requires the best histopathological diagnosis and pre-analytical preparation practices. Diagnostic workflows should prioritize meticulous tissue handling to ensure robust molecular analyses to avoid tissue exhaustion and preserve the integrity of nucleic acids. Employing DNA plus RNA sequencing platforms, supported by molecular tumor boards, is recommended to enhance patient stratification and guide therapeutic decision-making in CCA.

胆管癌样本管理和分子分析的最佳实践:实用指南。
胆管癌(CCA)是一种罕见但侵袭性的恶性肿瘤,通常在晚期诊断出来。其管理受到显著的分子异质性和有限的治疗选择的挑战。下一代测序(NGS)的进步已经确定了可操作的改变,例如FGFR2融合,从而促进了CCA管理的精确肿瘤学方法。涵盖领域:本综述整合了CCA分子谱分析的现有证据和专家见解。它检查了组织病理学亚型,并解决了与其诊断相关的诊断挑战。关键的分析前因素,包括活检技术,组织处理和肿瘤异质性,讨论了它们对分子测试的影响。该综述还评估了基于dna和基于rna的NGS方法,强调了它们在检测复杂基因组改变方面的优势和局限性。液体活检作为一种微创工具的作用,动态肿瘤监测也进行了探讨。专家意见:CCA分子谱的常规整合需要最好的组织病理学诊断和分析前准备实践。诊断工作流程应优先考虑细致的组织处理,以确保稳健的分子分析,以避免组织耗竭并保持核酸的完整性。建议采用DNA + RNA测序平台,在分子肿瘤委员会的支持下,加强患者分层,指导CCA的治疗决策。
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来源期刊
CiteScore
6.60
自引率
0.00%
发文量
71
审稿时长
1 months
期刊介绍: Expert Review of Molecular Diagnostics (ISSN 1473-7159) publishes expert reviews of the latest advancements in the field of molecular diagnostics including the detection and monitoring of the molecular causes of disease that are being translated into groundbreaking diagnostic and prognostic technologies to be used in the clinical diagnostic setting. Each issue of Expert Review of Molecular Diagnostics contains leading reviews on current and emerging topics relating to molecular diagnostics, subject to a rigorous peer review process; editorials discussing contentious issues in the field; diagnostic profiles featuring independent, expert evaluations of diagnostic tests; meeting reports of recent molecular diagnostics conferences and key paper evaluations featuring assessments of significant, recently published articles from specialists in molecular diagnostic therapy. Expert Review of Molecular Diagnostics provides the forum for reporting the critical advances being made in this ever-expanding field, as well as the major challenges ahead in their clinical implementation. The journal delivers this information in concise, at-a-glance article formats: invaluable to a time-constrained community.
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