Custom Next-Generation Sequencing panel for cholangiocarcinoma diagnostic profiling
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Updated: Nov 12, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Dario de Biase1,2, Thais Maloberti1, Giulia Ciccimarra1
1Solid Tumor Molecular Pathology Laboratory, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy.
Objective:
Cholangiocarcinoma (CCA) is an aggressive malignancy with limited therapeutic options and poor prognosis. Advances in next-generation sequencing (NGS) revealed distinct molecular profiles between intrahepatic (iCCA) and extrahepatic (eCCA) subtypes, identifying recurrent mutations with diagnostic and therapeutic significance. We evaluated the performance of a laboratory-developed NGS panel designed for the integrated diagnostic and predictive profiling of CCA.
Methods And Results:
In this multicentric retrospective study, 50 biopsies were analyzed, achieving 92% success rate. Pathogenic variants were identified in 58.7% of samples, with TP53 (26.1%) and KRAS (21.7%) as the most frequently mutated genes. Multiple mutations were observed in 14 cases, the most frequent co-mutation being KRAS plus TP53 (6 cases). Non-druggable but diagnostically relevant genes (e.g., ARID1A, BAP1) were added to enhance classification accuracy.
Conclusions:
Despite limitations such as the inability to detect gene fusions (e.g., FGFR2), the panel demonstrated strong analytical feasibility and clinical utility. Integrating DNA/RNA sequencing, optimized pre-analytical workflows, and multidisciplinary interpretation will refine precision oncology approaches for CCA management in the future.