血浆中循环肿瘤 DNA 多靶点突变检测的实施:外部质量评估提供者调查的视角。

IF 3.4 3区 医学 Q1 PATHOLOGY Virchows Archiv Pub Date : 2024-10-01 Epub Date: 2023-05-19 DOI:10.1007/s00428-023-03558-x
Jennifer A Fairley, Tony Badrick, Marc G Denis, Lora Dimitrova, Rebecca Goodall, Joerg Maas, Nicola Normanno, Simon J Patton, Etienne Rouleau, Antonio Russo, Tracy L Stockley, Zandra C Deans
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引用次数: 0

摘要

近年来,由于靶向药物疗法的出现,对各种癌症类型的大规模肿瘤图谱分析的需求不断增加。通过分析血浆循环肿瘤DNA(ctDNA)的变化来检测癌症可以提高生存率;如果没有肿瘤组织,建议进行ctDNA检测。IQN Path 的六名外部质量评估成员向注册实验室和所有 IQN Path 合作企业成员分发了一份分子病理学检测在线调查。调查收集了来自 45 个国家 275 家实验室的数据;其中 245 家(89%)实验室进行了分子病理学检测,包括 177 家(64%)进行血浆 ctDNA 诊断服务检测的实验室。最常见的检测是基于新一代测序的检测(n = 113)。已知的分层治疗选择基因,包括 KRAS(97 个)、NRAS(84 个)和表皮生长因子受体(130 个),是常见的靶点。ctDNA血浆检测的接受度和进一步实施检测的计划表明,设计良好的EQA计划的支持非常重要。
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Implementation of circulating tumour DNA multi-target mutation testing in plasma: a perspective from an external quality assessment providers' survey.

Demand for large-scale tumour profiling across cancer types has increased in recent years, driven by the emergence of targeted drug therapies. Analysing alternations in plasma circulating tumour DNA (ctDNA) for cancer detection can improve survival; ctDNA testing is recommended when tumour tissue is unavailable. An online survey of molecular pathology testing was circulated by six external quality assessment members of IQN Path to registered laboratories and all IQN Path collaborative corporate members. Data from 275 laboratories across 45 countries were collected; 245 (89%) perform molecular pathology testing, including 177 (64%) which perform plasma ctDNA diagnostic service testing. The most common tests were next-generation sequencing-based (n = 113). Genes with known stratified treatment options, including KRAS (n = 97), NRAS (n = 84), and EGFR (n = 130), were common targets. The uptake of ctDNA plasma testing and plans to implement further testing demonstrates the importance of support from a well-designed EQA scheme.

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来源期刊
Virchows Archiv
Virchows Archiv 医学-病理学
CiteScore
7.40
自引率
2.90%
发文量
204
审稿时长
4-8 weeks
期刊介绍: Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.
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