2026-04-14T06:28:24Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/137162025-09-30T02:07:19Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc Castet, Florian author Salcedo, Maria-Teresa author Nuciforo, Paolo author Aguilar, Susana author Vivancos, Ana author 2025-09-23T10:20:48Z 2025-09-23T10:20:48Z 2025 Cholangiocarcinoma; Molecular profiling; Tissue analysis Colangiocarcinoma; Perfil molecular; Análisis de tejidos Colangiocarcinoma; Perfil molecular; Anàlisi de teixits Introduction Cholangiocarcinoma (CCA) is an uncommon yet aggressive malignancy often diagnosed at advanced stages. Its management is challenged by significant molecular heterogeneity and limited treatment options. Advances in next-generation sequencing (NGS) have identified actionable alterations, such as FGFR2 fusions, thereby facilitating a precision oncology approach for CCA management. Areas Covered This review consolidates current evidence and expert insights on molecular profiling in CCA. It examines the histopathological subtypes and addresses diagnostic challenges associated with their diagnosis. Critical pre-analytical factors, including biopsy techniques, tissue handling, and tumor heterogeneity, are discussed in relation to their impact on molecular testing. The review also evaluates DNA-based versus RNA-based NGS methodologies, highlighting their strengths and limitations in detecting complex genomic alterations. The role of liquid biopsy as a minimally invasive tool for dynamic tumor monitoring is also explored. Expert Opinion The routine integration of molecular profiling for CCA requires the best histopathological diagnosis and pre-analytical preparation practices. Diagnostic workflows should prioritize meticulous tissue handling to ensure robust molecular analyses to avoid tissue exhaustion and preserve the integrity of nucleic acids. Employing DNA plus RNA sequencing platforms, supported by molecular tumor boards, is recommended to enhance patient stratification and guide therapeutic decision-making in CCA. This paper was funded by Incyte Corporation. http://hdl.handle.net/11351/13716 Conductes biliars - Càncer - Tractament Conductes biliars - Càncer - Diagnòstic molecular Seqüència de nucleòtids ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Molecular Diagnostic Techniques DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Carcinoma::Adenocarcinoma::Cholangiocarcinoma DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Biliary Tract Neoplasms::Bile Duct Neoplasms Other subheadings::Other subheadings::/therapy ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencing TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::técnicas de diagnóstico molecular ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::carcinoma::adenocarcinoma::colangiocarcinoma ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias del tracto biliar::neoplasias de los conductos biliares Otros calificadores::Otros calificadores::/terapia TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas genéticas::análisis de secuencias::secuenciación de nucleótidos de alto rendimiento Best practices in sample management and molecular profiling of cholangiocarcinoma: a practical guide