MOLECULAR EXAMINATIONS
Cholangiocarcinoma
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General information about Cholangiocarcinoma
Cholangiocarcinomas (CCAs) are biliary epithelial tumors that involve the intrahepatic, perihepatic, and peripheral parts of the biliary tree. Each anatomic subtype has a distinct epidemiology, molecular characteristics, prognosis, and clinical management strategy.
- 70% of patients with cholangiocarcinoma are diagnosed with advanced disease, which compromises treatment options and leads to a poor prognosis.
- The multidisciplinary approach (oncology council) allows for a more comprehensive understanding of disease biology and collaborative options for patients with cholangiocarcinoma.
- The biopsy material should be used for the planned molecular profile as well as for diagnostic needs.
- 50% of patients with cholangiocarcinoma have at least one potentially actionable genomic mutation, supporting the rationale for determining the molecular profile of the tumor at diagnosis.
Genomic mutations (mutations or rearrangements) with potential therapeutic implications are found in approximately 50% of patients with intrahepatic cholangiocarcinoma, allowing for a more personalized picture of each patient’s disease biology.
Two of the most common genomic mutations associated with intrahepatic cholangiocarcinoma (iCCA) include isocitrate dehydrogenase (IDH) mutations and fusions in fibroblast growth receptor 2 (FGFR2).
FGFR genomic mutations are oncogenic factors that lead to cancer, such as intrahepatic cholangiocarcinoma (iCCA), urothelial carcinoma, myeloid/lymphoid neoplasms and other malignancies. They have been observed in all FGFR subtypes (FGFR1, FGFR2, FGFR3 and FGFR4).
The changes include point mutations, gene amplification and chromosomal rearrangements that can lead to fusion proteins, including FGFR2 fusions.
FGFR2 fusions result in “ligand-independent” (constitutive) activation of processes, leading to tumorigenesis.
The introduction of Next Generation Sequencing technologies has opened new horizons for a better understanding of the molecular profile of cholangiocarcinoma and for the identification and evaluation of potential new therapies tailored to the molecular characteristics of patients’ cancer.
The high frequency of finding potentially targetable genomic mutations in intrahepatic cholangiocarcinoma (iCCA) strongly supports the need for molecular testing.
The European Society of Medical Oncology (ESMO) recommends the use of a multigene NGS panel to identify level I genomic mutations (IDH1 mutations, FGFR2 fusions, NTRK fusions and MSI-H) in advanced-stage cholangiocarcinoma.
NGS offers the opportunity, in a disease rich in molecular targets, such as iCCA, to analyze a tissue sample for multiple lesions simultaneously. Therefore, although the waiting time for the result may be longer for NGS, NGS can eliminate the need for further biopsies for molecular testing due to the savings in material to be tested.
The choice of biopsy method should take into account the need for molecular profiling as well as diagnostic needs.
Compared to the tissue required for histological diagnosis, additional tissue may be required to meet the emerging molecular profiling needs in iCCA.
Although more invasive than fine needle aspiration (FNB), core needle biopsy provides significant histopathological details about the tumor and usually yields enough tissue to allow for comprehensive molecular profiling.
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Frequently Asked Questions (FAQ)
If you have been diagnosed with cholangiocarcinoma (diagnosis based on histological examination), molecular profiling of the cancer is recommended. This molecular test aims to detect
- if the tumor exhibits microsatellite instability (MSI or MMR),
- protein expression disorder (PD-L1), or ή
- fusions/rearrangements and mutations in the genes IDH1,2, FGFR2, NTRK1,2,3, BRAF, KRAS, etc.
These mutations are closely correlated with the response of cholangiocarcinoma to the treatment chosen.
Based on the determination of the molecular profile, the Oncologist is given the opportunity to choose the optimal chemotherapy regimen, immunotherapy, or targeted therapy.
Consult your Oncologist for the best option for you.
The tests are performed on the surgical specimen (paraffin cubes) or the biopsy material (paraffin cube) from which your histological examination was performed or on the aspiration material (FNAB, EBUS) from which your cytological examination was performed. In our fully integrated Laboratory, the pathologist selects the most appropriate & representative paraffin cube, ensuring that the most appropriate sample will be used for the tests. Qualitative and quantitative parameters are checked.
In case your sample is not already at Microdiagnostics archive, please contact us immediately so that we can arrange for its safe and rapid transport to our laboratory. You will also need to quickly and easily complete the Consent Form.
Most of the time, the sample material we are called upon to handle is small because it has resulted from a minimally invasive method (needle biopsy, fluid aspiration, paraffin block with minimal material).
In our laboratory, Pathologists check in a timely manner whether the material to be examined is sufficient. If so, then a management algorithm is followed, with the aim of achieving the performance of multiple tests on the material (Immunohistochemistry, real-time PCR, NGS) in order to fully check the molecular profile of your tumor (proteins, genes, histological Grading).
In this case, and once sample enrichment manipulations have been exhausted, we contact your clinician to discuss alternative approaches in order to obtain the desired information to select the optimal treatment for you. Some examples:
- Performing an alternative test (e.g. Immunohistochemistry instead of PCR, or choosing Next Generation Sequencing (NGS)
- Performing Immunohistochemistry instead of FISH (Fluorescent In Situ Hybridization) and tubulin
- Possible blood sampling instead of tissue testing (liquid biopsy)
- Possible option to take a new biopsy or puncture
Contact us at 2310 23 22 72 and we will immediately assist you in quickly transporting the sample to our laboratory.
By cash, bank deposit, using a bank card or by online interbank deposit
One of the primary concerns at Microdiagnostics is the protection of your personal data as well as the strict observance of the conditions for the protection of your genetic material and medical results.
In full compliance with the General Data Protection Regulation (GDPR), we ensure that any test conducted is done with your knowledge and consent and we do not communicate results over the phone.