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FGFR2 testing in cholangiocarcinoma: translating molecular studies into clinical practice
Valentina Angerilli1, Lorenzo Fornaro2, Francesco Pepe3
1Department of Medicine (DIMED), Surgical Pathology Unit, University of Padua, Padua (PD), Italy.
Abstract:
Cholangiocarcinoma (CCA) is a heterogeneous group of neoplasms burdened by a dismal prognosis. Several studies have investigated the genomic profile of CCA and identified numerous druggable genetic alterations, including FGFR2 fusions/rearrangements. Approximately 5-7% of CCAs and 10-20% of intrahepatic iCCAs harbor FGFR2 fusions. With the recent advent of FGFR-targeting therapies into clinical practice, a standardization of molecular testing for FGFR2 alterations in CCA will be necessary. In this review, we describe the technical aspects and challenges related to FGFR2 testing in routine practice, focusing on the comparison between Next-Generation Sequencing (NGS) and FISH assays, the best timing to perform the test, and on the role of liquid biopsy.
Insights
This review discusses molecular testing for FGFR2 alterations in cholangiocarcinoma (CCA). Standardizing tests like Next-Generation Sequencing and FISH is crucial for targeted therapies.
Area of Science:
- Oncology
- Genetics
- Molecular Diagnostics
Background:
- Cholangiocarcinoma (CCA) is a cancer with poor outcomes.
- Genomic profiling reveals actionable targets, such as FGFR2 alterations.
- FGFR2 fusions occur in 5-7% of CCA, particularly intrahepatic CCA (10-20%).
Purpose of the Study:
- To review technical aspects and challenges of FGFR2 alteration testing in CCA.
- To compare Next-Generation Sequencing (NGS) and Fluorescence In Situ Hybridization (FISH) assays.
- To discuss optimal timing for testing and the utility of liquid biopsy.
Main Methods:
- Review of current literature on FGFR2 testing methodologies.
- Comparative analysis of NGS and FISH for detecting FGFR2 fusions/rearrangements.
- Discussion of clinical implementation challenges and liquid biopsy applications.
Main Results:
- FGFR2 alterations are significant targets in CCA treatment.
- Both NGS and FISH have roles, but standardization is needed.
- Liquid biopsy shows promise for non-invasive monitoring.
Conclusions:
- Standardized molecular testing for FGFR2 alterations is essential for effective CCA treatment.
- Choosing the right test (NGS vs. FISH) depends on clinical context.
- Further research into liquid biopsy applications will enhance patient care.
