Intended for licensed healthcare professionals located in the United Kingdom only.

FGFR2 fusion testing

Molecular profiling for the treatment of cholangiocarcinoma (CCA)

Targeted medicine

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

  • FGFR2 fusions are detectable early in disease progression and are key drivers of tumour growth.7,8
  • Molecular profiling is necessary to identify FGFR2 fusions and rearrangements.1,7,8

Methodologies to determine FGFR alterations

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 an assay that:

  • Can detect FGFR2 fusions (which are distinct from FGFR2 point mutations).1,14,15
  • Can detect all FGFR2 fusions, including those with known or unknown fusion partners (ie, FGFR2 fusion-partner agnostic).1,14,15

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

An illustration of the liver
  1. Jain A, et al. JCO Precis Oncol. 2018;2:1–12.
  2. Lowery MA, et al. Clin Cancer Res. 2018;24:4154–61.
  3. Graham RP, et al. Hum Pathol. 2014;45:1630–8.
  4. PEMAZYRE® (pemigatinib). Summary of Product Characteristics. 2021.
  5. Farshidfar F, et al. Cell Rep. 2017;18:2780–94.
  6. Ross JS, et al. Oncologist. 2014;19:235–42.
  7. Arai Y, et al. Hepatology. 2014;59:1427–34.
  8. Borad MJ, et al. Curr Opin Gastroenterol. 2015;31:264–8.
  9. Dudley JC, et al. J Mol Diagn. 2016;18:124–30.
  10. Hu L, et al. Biomark Res. 2014;2:3.
  11. Cree IA, et al. J Clin Pathol. 2014;67:923–31.
  12. Damodaran S, et al. Am Soc Clin Oncol Educ Book. 2015;e175–82.
  13. Su D, et al. J Exp Clin Cancer Res. 2017;36:121.
  14. Silverman IM, et al. Cancer Discov. 2020;11:326–39.
  15. Barr FG. Expert Rev Mol Diagn. 2016;16:921–3.
  16. Mosele F, et al. Ann Oncol. 2020;31:1491–505.

Learn more about PEMAZYRE® (pemigatinib):

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A self-directed learning material on PEMAZYRE is available to complete in your own time. With the PEMAZYRE learning module, you can learn about the unmet needs in CCA, discuss the need for molecular profiling for early patient identification and learn more about PEMAZYRE.

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