Intended for licensed healthcare professionals located in Switzerland.
Genomic alterations such as chromosomal translocations and fusions contribute to malignant transformation.1
Genomic studies reveal that ~50% of patients with CCA have actionable alterations, including fibroblast growth factor receptor 2 (FGFR2) fusions or rearrangements.2
FGFR2 fusions/rearrangements are strong oncogenic drivers and are the most common FGFR alteration, occurring almost exclusively in 10–16% of intrahepatic cholangiocarcinoma (iCCA) cases.1,3-6
Genomic alterations with potential therapeutic implication are frequently found in patients with CCA,2 supporting the rationale for molecular profiling at diagnosis. A variety of molecular profiling methods are now available, with next-generation sequencing (NGS) and fluorescence in situ hybridisation (FISH) among the most common assays.2,9,10
NGS allows the opportunity to analyse a tissue sample for multiple alterations at the same time. Although the specimen size for NGS is initially larger and the turnaround time can be longer than for other methodologies, its more extensive coverage of genes of interest can be an advantage.11-13
FISH was originally designed to identify one specific, predetermined alteration at a time. Although multigene FISH assays can detect multiple prespecified genetic alterations, NGS may provide additional, non-prespecified information not possible to detect through FISH.9,10
FGFR2 fusions have a wide range of fusion partners.2 Therefore, to identify patients with FGFR2 fusions, it is important to select a validated assay that:
The European Society for Medical Oncology (ESMO) recommends routine use of multigene NGS to detect level 1 actionable alterations (IDH1 mutations,
FGFR2 fusions, NTRK fusions and MSI-H) in advanced CCA.16
All references are available upon request.