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优化非小细胞肺癌患者的组织获取和分子检测途径:英国专家共识声明。

Optimising tissue acquisition and the molecular testing pathway for patients with non-small cell lung cancer: A UK expert consensus statement.

机构信息

Lungs for Living Research Centre, UCL Respiratory, University College London, London, United Kingdom; University College London Hospitals NHS Foundation Trust, London, United Kingdom.

North Thames Genomic Laboratory Hub, Great Ormond Street Hospital, London, United Kingdom.

出版信息

Lung Cancer. 2022 Oct;172:142-153. doi: 10.1016/j.lungcan.2022.08.003. Epub 2022 Aug 12.

Abstract

Targeted therapy against actionable variants has revolutionised the treatment landscape for non-small cell lung cancer (NSCLC). Approximately half of NSCLC adenocarcinomas have an actionable variant, making molecular testing a critical component of the diagnostic process to personalise therapeutic options, optimise clinical outcomes and minimise toxicity. Recently, genomic testing in England has undergone major changes with the introduction of Genomic Laboratory Hubs, designed to consolidate and enhance existing laboratory provision and deliver genomic testing as outlined in the National Genomic Test Directory. Similar changes are ongoing in Scotland, Wales and Northern Ireland. However, multiple challenges exist with current tissue acquisition procedures and the molecular testing pathway in the UK, including quantity and quality of available tissue, adequacy rates, test availability among genomic laboratories, turnaround times, multidisciplinary team communication, and limited guidance and standardisation. The COVID-19 pandemic has added an extra layer of complexity. Herein, we summarise best practice recommendations, based on expert opinion, to overcome existing challenges in the UK. The least invasive biopsy technique should be undertaken with the aim of acquiring the greatest quality and quantity of tissue. Use of sedation should be considered to improve patient experience. Rapid on-site evaluation may also be useful to help guide adequate sampling, and liquid biopsy may be beneficial in some instances. Sample processing should be appropriate to facilitate biomarker testing, in particular, next-generation sequencing for comprehensive genomic information. Steps to optimise tissue utilisation and turnaround times, such as planning of tissue usage, limiting immunohistochemistry, tumour enrichment, and reflex testing at diagnosis, should be implemented. Guidelines for tissue acquisition and sample processing may help to improve sample adequacy to perform downstream testing. Communication among genomic laboratories will help to standardise test availability across England and local auditing could identify further areas for optimisation, including ways to improve turnaround times and adequacy rates.

摘要

针对可靶向变异的靶向治疗彻底改变了非小细胞肺癌(NSCLC)的治疗格局。大约一半的 NSCLC 腺癌存在可靶向变异,这使得分子检测成为诊断过程的关键组成部分,旨在个性化治疗选择、优化临床结果并最小化毒性。最近,随着基因组学实验室中心的引入,英国的基因组检测发生了重大变化,旨在整合和增强现有实验室资源,并按照国家基因组测试目录提供基因组测试。苏格兰、威尔士和北爱尔兰也在进行类似的变革。然而,英国目前的组织获取程序和分子检测途径存在多个挑战,包括可用组织的数量和质量、充足率、基因组实验室之间的测试可用性、周转时间、多学科团队沟通以及有限的指导和标准化。COVID-19 大流行增加了一层额外的复杂性。在此,我们根据专家意见总结了克服英国现有挑战的最佳实践建议。应采用最微创的活检技术,目的是获取最佳质量和数量的组织。应考虑使用镇静剂来改善患者体验。快速现场评估也可能有助于指导充足采样,在某些情况下,液体活检可能是有益的。样品处理应适当,以促进生物标志物检测,特别是用于全面基因组信息的下一代测序。应采取优化组织利用率和周转时间的步骤,例如规划组织使用、限制免疫组织化学、肿瘤富集和诊断时的反射测试。组织获取和样品处理指南可能有助于提高样本充足率,以进行下游检测。基因组学实验室之间的沟通将有助于在英格兰实现测试可用性的标准化,而当地审计可以确定进一步的优化领域,包括改善周转时间和充足率的方法。

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