Molecular profiling in cholangiocarcinoma: A practical guide to next-generation sequencing

Area of Science:

• Oncology
• Genomics
• Pathology

Background:

• Cholangiocarcinomas (CCA) are diverse biliary tract tumors with distinct genomic profiles.
• Genomic alterations in CCA impact prognosis and treatment response.
• Targetable genetic variants are present in 33-50% of CCA patients.

Purpose of the Study:

• To provide practical guidance on utilizing next-generation sequencing (NGS) for cholangiocarcinoma (CCA) molecular profiling.
• To assist clinical pathologists and healthcare professionals in optimizing NGS testing for CCA.
• To cover biopsy techniques, sample preparation, panel selection, and result interpretation.

Main Methods:

• Review of current literature and best practices for NGS in CCA.
• Focus on the role of pathology in sample assessment and testing strategies.
• Guidance on selecting appropriate NGS panels based on tumor characteristics.

Main Results:

• NGS is effective in identifying unique tumor-specific gene variants in CCA.
• NGS facilitates diagnosis, prognosis assessment, and selection of targeted therapies.
• NGS can reveal resistance mechanisms and guide subsequent treatment choices.

Conclusions:

• NGS is a valuable tool for personalized medicine in cholangiocarcinoma.
• Pathologists are integral to successful NGS implementation and interpretation.
• Optimized NGS workflows improve the management of CCA patients.