The introduction of next-generation sequencing (NGS) technologies has opened new horizons for a better understanding of the molecular basis of cholangiocarcinoma (CCA), and for the identification and evaluation of potential new treatments tailored to the molecular characteristics of patients’ tumours1
Watch the animated video for an overview of the importance of molecular testing from the perspective of a patient and oncologist
A variety of molecular profiling methods are now available, with NGS and fluorescence in situ hybridisation (FISH) among the most common assays3,4
There are some important differences between the 2 methods:
The European Society for Medical Oncology (ESMO) recommends routine use of multigene NGS to detect level I genomic alterations (IDH1 mutations, FGFR2 fusions, NTRK fusions and MSI-H) in advanced CCA8
Compared with the tissue required for a histological diagnosis, additional tissue may be required to satisfy emerging molecular profiling needs in iCCA12,13
A molecular profiling plan should be considered early on, including tissue requirements for the specific planned biomarker test when determining biopsy technique12,13
Although more invasive than fine-needle aspiration, core-needle biopsy provides important pathological details about the tumour and typically yields enough tissue to allow for comprehensive molecular profiling12-14
Core-needle biopsy12-14 | Fine-needle aspiration12 |
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Advantages
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Advantages
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Considerations
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Considerations
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Once the biopsy is performed, the tissue should be processed promptly and prepared according to the specific needs of the molecular profiling assay selected5
Compared to traditional tissue sampling methods, liquid biopsy is less invasive and can be serially repeated, allowing real-time monitoring of the tumour genomic profile and/or response to therapy15
Diagnostic biomarkers and potential therapeutic targets can be detected by analysing cellular components such as cell-free DNA (cfDNA), circulating tumour DNA (ctDNA), proteins, cytokines and serum metabolites15
Analysis of cfDNA/ctDNA via NGS has identified a range of genomic alterations in patients with biliary tract tumours, including TP53, BRAF, FGFR2 and IDHA1 mutations, ERBB2 amplifications and FGFR2 fusions15
However, the role of liquid biopsy in clinical practice for patients with cholangiocarcinoma is still marginal and further research is necessary15