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Updated: Aug 30, 2025
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Molecular Profile and Prognostic Value of BAP1 Mutations in Intrahepatic Cholangiocarcinoma: A Genomic Database
Alessandro Rizzo1, Riccardo Carloni2,3, Angela Dalia Ricci4
1Struttura Semplice Dipartimentale di Oncologia Medica per la Presa in Carico Globale del Paziente Oncologico "Don Tonino Bello", I.R.C.C.S. Istituto Tumori "Giovanni Paolo II", Viale Orazio Flacco 65, 70124 Bari, Italy.
Background:
Recent years have witnessed the advent of molecular profiling for intrahepatic cholangiocarcinoma (iCCA), and new techniques have led to the identification of several molecular alterations. Precision oncology approaches have been widely evaluated and are currently under assessment, as shown by the recent development of a wide range of agents targeting Fibroblast Growth Factor Receptor (FGFR) 2, Isocitrate Dehydrogenase 1 (IDH-1), and BRAF. However, several knowledge gaps persist in the understanding of the genomic landscape of this hepatobiliary malignancy.
Methods:
In the current study, we aimed to comprehensively analyze clinicopathological features of BAP1-mutated iCCA patients in public datasets to increase the current knowledge on the molecular and biological profile of iCCA.
Results:
The current database study, including 772 iCCAs, identified BAP1 mutations in 120 cases (15.7%). According to our analysis, no differences in terms of overall survival and relapse-free survival were observed between BAP1-mutated and BAP1 wild-type patients receiving radical surgery. In addition, IDH1, PBRM1, and ARID1A mutations were the most commonly co-altered genes in BAP1-mutated iCCAs.
Conclusions:
The genomic characterization of iCCA is destined to become increasingly important, and more efforts aimed to implement iCCA genomics analysis are warranted.
Insights
Tumor suppressor gene BAP1 mutations are found in 15.7% of intrahepatic cholangiocarcinoma (iCCA) cases. BAP1 mutations do not impact survival outcomes after surgery in iCCA patients. Further genomic analysis of iCCA is essential.
Area of Science:
- Oncology
- Genomics
- Hepatobiliary Malignancies
Background:
- Intrahepatic cholangiocarcinoma (iCCA) is a hepatobiliary malignancy with evolving molecular profiling.
- Targeted therapies for iCCA are emerging, focusing on alterations like FGFR2, IDH1, and BRAF.
- Significant knowledge gaps remain regarding the comprehensive genomic landscape of iCCA.
Purpose of the Study:
- To investigate the clinicopathological features of BAP1-mutated iCCA.
- To expand the understanding of the molecular and biological profile of iCCA.
- To analyze the impact of BAP1 mutations on patient survival.
Main Methods:
- Comprehensive analysis of clinicopathological data from public datasets.
- Inclusion of 772 iCCA cases in the database study.
- Identification and analysis of BAP1 mutations and co-altered genes.
Main Results:
- BAP1 mutations were identified in 15.7% (120/772) of iCCA cases.
- No significant differences in overall survival or relapse-free survival were observed between BAP1-mutated and wild-type patients undergoing radical surgery.
- IDH1, PBRM1, and ARID1A mutations were frequently co-altered in BAP1-mutated iCCA.
Conclusions:
- Genomic characterization of iCCA is increasingly critical for understanding and treating the disease.
- Further research and implementation of iCCA genomics analysis are necessary.
- BAP1 mutation status may not be a prognostic biomarker for survival after surgery in iCCA.
