Review Article


The effect of genetics and biochemistry on the pathogenesis of cholangiocarcinoma

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1 Department of Internal Medicine, Hacettepe University, Faculty of Medicine, Sihhiye, Ankara 06100, Turkey

2 Department of Medical Biochemistry, Hacettepe University, Faculty of Medicine, Sihhiye, Ankara 06100, Turkey

Address correspondence to:

Basak Celtikci

MD, PhD, Assistant Professor, Department of Medical Biochemistry, Hacettepe University, Faculty of Medicine, Sihhiye, Ankara 06100,

Turkey

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Article ID: 100104Z04MU2024

doi: 10.5348/100104Z04MU2024RV

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How to cite this article

Ucdal M, Burus A, Celtikci B. The effect of genetics and biochemistry on the pathogenesis of cholangiocarcinoma. Int J Hepatobiliary Pancreat Dis 2024;14(2):1–14.

ABSTRACT


Cholangiocarcinoma (CCA) presents a significant therapeutic challenge due to its poor prognosis and the complex interplay of metabolic pathways in its development. This study aims to elucidate the genetic, biochemical, and metabolic factors contributing to CCA’s pathogenesis to inform more targeted and effective treatment strategies. A comprehensive review of the current literature was conducted, focusing on the role of genetic variations and metabolic disruptions in CCA. Key pathways such as PI3K/AKT/mTOR, FGFR, and IDH were examined, along with their impacts on carbohydrate, lipid, nucleic acid, and amino acid metabolism. The findings indicate that the liver’s vital role in regulating these metabolic processes means that disruptions can profoundly influence disease progression. Genetic variations were found to significantly alter both metabolic and signaling pathways, contributing to the aggressive nature of CCA. Understanding the complexities of genetic and metabolic interplay in CCA is essential for developing more targeted and effective treatment strategies. This review highlights the importance of these pathways in the pathogenesis of CCA and suggests potential therapeutic targets for future research.

Keywords: Biochemistry, Biomarkers, Cholangiocarcinoma, Genetics, Therapeutic targets

SUPPORTING INFORMATION


Author Contributions

Mete Ucdal - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Final approval of the version to be published

Ayse Burus - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published

Basak Celtikci - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published

Guarantor of Submission

The corresponding author is the guarantor of submission.

Source of Support

None

Consent Statement

Written informed consent was obtained from the patient for publication of this article.

Data Availability

All relevant data are within the paper and its Supporting Information files.

Conflict of Interest

Authors declare no conflict of interest.

Copyright

© 2024 Mete Ucdal et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.