[Molecular profiling in biliary tract cancers: A national practice survey of French platforms].

Matthieu Delaye, Cindy Neuzillet, Jean-Christophe Sabourin
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Abstract

Introduction: Molecular profiling has become essential in the management of patients with biliary tract cancer (BTC). The aim of this study was to evaluate the practices of French genetics platforms in the management of BTCs.

Methods: A survey was developed by a multidisciplinary group and distributed to each of the 28 French genetics platforms over a one-month period.

Results: Twenty-one platforms answered the survey (75%). A majority (62%) had performed more than 50 analyses for BTCs over the last two years, with an average turnaround time for results evaluated between 11 and 15 days for 62% of them. Three quarters (76%) of the platforms performed both DNA and RNA analysis, while a quarter (24%) performed RNA analysis only. A commercial panel was used by 50% of platforms for DNA analysis, and 80% for RNA. Panels included between 10 and 50 genes for 76% of platforms. All responding platforms systematically tested for IDH1 mutations, FGFR2 fusions and BRAF mutations. A majority systematically tested for HER2 amplification, MSI status and TP53 mutation (88%, 81% and 69% respectively).

Discussion: This national survey of French genetics platforms shows good performance and compliance with recommendations for molecular analysis. However, many medical, financial and organizational obstacles remain upstream of these platforms.

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[胆道癌症的分子图谱分析:法国全国平台实践调查]。
导言:分子图谱分析在胆道癌(BTC)患者的管理中已变得至关重要。本研究旨在评估法国遗传学平台在胆道癌治疗中的做法:方法:一个多学科小组制定了一份调查表,并在一个月内分发给法国 28 个遗传学平台:结果:21 个平台回答了调查(75%)。大多数平台(62%)在过去两年中为 BTC 进行了 50 多项分析,其中 62% 的平台评估结果的平均周转时间在 11-15 天之间。四分之三(76%)的平台同时进行 DNA 和 RNA 分析,四分之一(24%)的平台只进行 RNA 分析。50% 的平台使用商业基因库进行 DNA 分析,80% 的平台使用商业基因库进行 RNA 分析。76% 的平台使用了 10 至 50 个基因。所有作出回应的平台都系统检测了 IDH1 突变、FGFR2 融合和 BRAF 突变。大多数平台系统检测了 HER2 扩增、MSI 状态和 TP53 突变(分别为 88%、81% 和 69%):这项对法国遗传学平台的全国性调查显示,这些平台在分子分析方面表现良好,符合相关建议。然而,在这些平台的上游仍存在许多医疗、财务和组织方面的障碍。
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