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

Bull Cancer. 2024 Nov;111(11):1030-1037. doi: 10.1016/j.bulcan.2024.08.013. Epub 2024 Sep 23.
[Article in French]

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.

Keywords: Biliary tract cancer; Cancer des voies biliaires; Enquête de pratique; Genetics platform; Molecular profiling; Plateforme de génétique; Practice survey; Profilage moléculaire.

Publication types

  • English Abstract

MeSH terms

  • Biliary Tract Neoplasms* / genetics
  • DNA, Neoplasm / analysis
  • DNA, Neoplasm / genetics
  • France
  • Gene Amplification
  • Gene Expression Profiling / methods
  • Health Care Surveys
  • Humans
  • Isocitrate Dehydrogenase / genetics
  • Microsatellite Instability
  • Mutation
  • Proto-Oncogene Proteins B-raf* / genetics
  • RNA, Neoplasm / analysis
  • RNA, Neoplasm / genetics
  • Receptor, ErbB-2 / genetics
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics
  • Tumor Suppressor Protein p53 / genetics

Substances

  • Proto-Oncogene Proteins B-raf
  • BRAF protein, human
  • Receptor, ErbB-2
  • Receptor, Fibroblast Growth Factor, Type 2
  • Isocitrate Dehydrogenase
  • FGFR2 protein, human
  • DNA, Neoplasm
  • RNA, Neoplasm
  • Tumor Suppressor Protein p53
  • ERBB2 protein, human
  • TP53 protein, human