Practical considerations for pathological diagnosis and molecular profiling of cholangiocarcinoma: an expert review for best practices.

IF 3.9 3区 医学 Q1 PATHOLOGY
Matt Evans, Timothy Kendall
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引用次数: 0

Abstract

Introduction: Advances in precision medicine have expanded access to targeted therapies and demand for molecular profiling of cholangiocarcinoma (CCA) patients in routine clinical practice. However, pathologists face challenges in establishing a definitive intrahepatic CCA (iCCA) diagnosis while preserving sufficient tissue for molecular profiling. Additionally, they frequently face challenges in optimal tissue handling to preserve nucleic acid integrity.

Areas covered: This article first identifies the challenges in establishing a definitive diagnosis of iCCA in a lesional liver biopsy while preserving sufficient tissue for molecular profiling. Then, the authors explore the clinical value of molecular profiling, the basic principles of single gene and next-generation sequencing (NGS) techniques, and the challenges in tissue sampling for genomic testing. They also propose an algorithm for best practice in tissue management for molecular profiling of CCA.

Expert opinion: Several practical challenges face pathologists during tissue sampling and processing for molecular profiling. Optimized tissue processing, careful tissue handling, and selection of appropriate approaches to molecular testing are essential to ensure that the highest possible quality of diagnostic information is provided in the greatest proportion of cases.

胆管癌病理诊断和分子图谱分析的实用注意事项:最佳实践专家评论。
导言:精准医疗的进步扩大了靶向治疗的可及性,常规临床实践中对胆管癌(CCA)患者进行分子图谱分析的需求也随之增加。然而,病理学家在确定肝内 CCA(iCCA)明确诊断的同时又要保留足够的组织进行分子图谱分析时面临着挑战。此外,他们还经常面临如何以最佳方式处理组织以保持核酸完整性的挑战:本文首先指出了在病变肝活检中明确诊断 iCCA,同时保留足够的组织进行分子分析所面临的挑战。然后,作者探讨了分子图谱分析的临床价值、单基因和下一代测序 (NGS) 技术的基本原理以及基因组测试组织取样的挑战。他们还提出了一种用于 CCA 分子图谱分析的组织管理最佳实践算法:病理学家在组织取样和处理过程中面临着一些实际挑战。优化组织处理、谨慎组织处理以及选择合适的分子检测方法对于确保为尽可能多的病例提供最高质量的诊断信息至关重要。
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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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