Role of ctDNA in Genetic Profiling & Outcomes for Advanced BTC

Summary

Biliary tract cancer (BTC) is a rare and heterogeneous disease with high incidence and mortality in Korea. Molecular profiling has enabled the identification of actionable alterations such as Isocitrate Dehydrogenase 1 (IDH1) mutations, FGFR2 fusions, ERBB2 amplifications, and dMMR/MSI-H status. However, the utility of tumor tissue-based next-generation sequencing (NGS) is often limited by difficulties in obtaining adequate tissue samples and the lack of in-house sequencing capacity across many hospitals. Circulating tumor DNA (ctDNA) analysis offers a minimally invasive alternative that can provide rapid and reliable genomic profiling. In a previous study, ctDNA testing showed high concordance with tissue-based genomic profiling for clinically significant alterations, particularly IDH1 mutations, and identified additional mutations not detected in tumor tissue. These findings suggest that ctDNA may expand access to targeted therapies such as ivosidenib . This multicenter, prospective, observational epidemiology study, organized by the Korean Cancer Study Group (KCSG) Biliary Tract Cancer Subcommittee, will evaluate the clinical utility of ctDNA-based genomic profiling in patients with advanced BTC. The study will assess concordance between ctDNA and tumor tissue sequencing, describe the prevalence of actionable alterations, and explore the impact of ctDNA testing on treatment decisions and clinical outcomes. By leveraging a nationwide network of BTC specialists, this study seeks to validate ctDNA as a feasible and scalable tool for precision oncology, supporting timely and personalized therapy for patients with BTC.

Eligibility

Inclusion Criteria:

* Patients with histologically confirmed advanced or metastatic biliary tract cancer (including intrahepatic cholangiocarcinoma, extrahepatic cholangiocarcinoma, and gallbladder cancer).
* Patients who meet one of the following conditions:

  * Patients prior to initiation of first-line systemic chemotherapy, or
  * Patients previously treated with systemic chemotherapy who can provide a blood sample immediately before starting subsequent therapy.
* Age ≥ 19 years at the time of enrollment.
* Willingness to provide a blood sample for ctDNA analysis.

Exclusion Criteria:

* Patients who refuse to provide blood samples for ctDNA testing.
* Patients unable to provide written informed consent.
* Patients concurrently enrolled in a similar study within the same institution. Prior screening will be performed to prevent duplicate enrollment.

Conditions2

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