AI Article Synopsis
- - Cholangiocarcinoma (CCA) is a serious cancer of the bile ducts, with notable genetic changes, particularly FGFR2 gene fusions found in 10-15% of intrahepatic cases, that could be targeted with therapy.
- - A thorough analysis of the FIGHT-202 trial data was conducted to explore different methods for detecting FGFR2 fusions, highlighting the complexities in understanding their genetic makeup.
- - The study aims to help medical professionals by providing guidelines for reporting on FGFR2 fusions, enhancing diagnostic accuracy and treatment decision-making for affected patients.
Article Abstract
Background: Cholangiocarcinoma (CCA) is a primary malignancy of the biliary tract with a dismal prognosis. Recently, several actionable genetic aberrations were identified with significant enrichment in intrahepatic CCA, including FGFR2 gene fusions with a prevalence of 10-15%. Recent clinical data demonstrate that these fusions are druggable in a second-line setting in advanced/metastatic disease and the efficacy in earlier lines of therapy is being evaluated in ongoing clinical trials. This scenario warrants standardised molecular profiling of these tumours.
Methods: A detailed analysis of the original genetic data from the FIGHT-202 trial, on which the approval of Pemigatinib was based, was conducted.
Results: Comparing different detection approaches and displaying representative cases, we described the genetic landscape and architecture of FGFR2 fusions in iCCA and show biological and technical aspects to be considered for their detection. We elaborated parameters, including a suggestion for annotation, that should be stated in a molecular diagnostic FGFR2 report to allow a complete understanding of the analysis performed and the information provided.
Conclusion: This study provides a detailed presentation and dissection of the technical and biological aspects regarding FGFR2 fusion detection, which aims to support molecular pathologists, pathologists and clinicians in diagnostics, reporting of the results and decision-making.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553883 | PMC |
| http://dx.doi.org/10.1038/s41416-022-01908-1 | DOI Listing |
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