Molecular Profile of Intrahepatic Cholangiocarcinoma

Intrahepatic cholangiocarcinoma (ICC) is a relatively uncommon but highly aggressive primary liver cancer that originates within the liver. The aim of this study is to review the molecular profile of intrahepatic cholangiocarcinoma and its implications for prognostication and decision-making. This c...

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Main Authors: Wellington Andraus, Francisco Tustumi, José Donizeti de Meira Junior, Rafael Soares Nunes Pinheiro, Daniel Reis Waisberg, Liliana Ducatti Lopes, Rubens Macedo Arantes, Vinicius Rocha Santos, Rodrigo Bronze de Martino, Luiz Augusto Carneiro D’Albuquerque
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/25/1/461
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author Wellington Andraus
Francisco Tustumi
José Donizeti de Meira Junior
Rafael Soares Nunes Pinheiro
Daniel Reis Waisberg
Liliana Ducatti Lopes
Rubens Macedo Arantes
Vinicius Rocha Santos
Rodrigo Bronze de Martino
Luiz Augusto Carneiro D’Albuquerque
author_facet Wellington Andraus
Francisco Tustumi
José Donizeti de Meira Junior
Rafael Soares Nunes Pinheiro
Daniel Reis Waisberg
Liliana Ducatti Lopes
Rubens Macedo Arantes
Vinicius Rocha Santos
Rodrigo Bronze de Martino
Luiz Augusto Carneiro D’Albuquerque
author_sort Wellington Andraus
collection DOAJ
description Intrahepatic cholangiocarcinoma (ICC) is a relatively uncommon but highly aggressive primary liver cancer that originates within the liver. The aim of this study is to review the molecular profile of intrahepatic cholangiocarcinoma and its implications for prognostication and decision-making. This comprehensive characterization of ICC tumors sheds light on the disease’s underlying biology and offers a foundation for more personalized treatment strategies. This is a narrative review of the prognostic and therapeutic role of the molecular profile of ICC. Knowing the molecular profile of tumors helps determine prognosis and support certain target therapies. The molecular panel in ICC helps to select patients for specific therapies, predict treatment responses, and monitor treatment responses. Precision medicine in ICC can promote improvement in prognosis and reduce unnecessary toxicity and might have a significant role in the management of ICC in the following years. The main mutations in ICC are in <i>tumor protein p53</i> (<i>TP53</i>), <i>Kirsten rat sarcoma virus</i> (<i>KRAS</i>), <i>isocitrate dehydrogenase 1</i> (<i>IDH1</i>), and <i>AT-rich interactive domain-containing protein 1A</i> (<i>ARID1A</i>). The rate of mutations varies significantly for each population. Targeting <i>TP53</i> and <i>KRAS</i> is challenging due to the natural characteristics of these genes. Different stages of clinical studies have shown encouraging results with inhibitors of mutated <i>IDH1</i> and target therapy for <i>ARID1A</i> downstream effectors. <i>Fibroblast growth factor receptor 2</i> (<i>FGFR2</i>) fusions are an important target in patients with ICC. Immune checkpoint blockade can be applied to a small percentage of ICC patients. Molecular profiling in ICC represents a groundbreaking approach to understanding and managing this complex liver cancer. As our comprehension of ICC’s molecular intricacies continues to expand, so does the potential for offering patients more precise and effective treatments. The integration of molecular profiling into clinical practice signifies the dawn of a new era in ICC care, emphasizing personalized medicine in the ongoing battle against this malignancy.
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spelling doaj.art-0e5d12d58df7466d9ce8a057abbbe8fc2024-01-10T14:59:36ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-12-0125146110.3390/ijms25010461Molecular Profile of Intrahepatic CholangiocarcinomaWellington Andraus0Francisco Tustumi1José Donizeti de Meira Junior2Rafael Soares Nunes Pinheiro3Daniel Reis Waisberg4Liliana Ducatti Lopes5Rubens Macedo Arantes6Vinicius Rocha Santos7Rodrigo Bronze de Martino8Luiz Augusto Carneiro D’Albuquerque9Department of Gastroenterology, Transplantation Unit, Universidade de São Paulo, São Paulo 05403-000, BrazilDepartment of Gastroenterology, Transplantation Unit, Universidade de São Paulo, São Paulo 05403-000, BrazilDepartment of Gastroenterology, Transplantation Unit, Universidade de São Paulo, São Paulo 05403-000, BrazilDepartment of Gastroenterology, Transplantation Unit, Universidade de São Paulo, São Paulo 05403-000, BrazilDepartment of Gastroenterology, Transplantation Unit, Universidade de São Paulo, São Paulo 05403-000, BrazilDepartment of Gastroenterology, Transplantation Unit, Universidade de São Paulo, São Paulo 05403-000, BrazilDepartment of Gastroenterology, Transplantation Unit, Universidade de São Paulo, São Paulo 05403-000, BrazilDepartment of Gastroenterology, Transplantation Unit, Universidade de São Paulo, São Paulo 05403-000, BrazilDepartment of Gastroenterology, Transplantation Unit, Universidade de São Paulo, São Paulo 05403-000, BrazilDepartment of Gastroenterology, Transplantation Unit, Universidade de São Paulo, São Paulo 05403-000, BrazilIntrahepatic cholangiocarcinoma (ICC) is a relatively uncommon but highly aggressive primary liver cancer that originates within the liver. The aim of this study is to review the molecular profile of intrahepatic cholangiocarcinoma and its implications for prognostication and decision-making. This comprehensive characterization of ICC tumors sheds light on the disease’s underlying biology and offers a foundation for more personalized treatment strategies. This is a narrative review of the prognostic and therapeutic role of the molecular profile of ICC. Knowing the molecular profile of tumors helps determine prognosis and support certain target therapies. The molecular panel in ICC helps to select patients for specific therapies, predict treatment responses, and monitor treatment responses. Precision medicine in ICC can promote improvement in prognosis and reduce unnecessary toxicity and might have a significant role in the management of ICC in the following years. The main mutations in ICC are in <i>tumor protein p53</i> (<i>TP53</i>), <i>Kirsten rat sarcoma virus</i> (<i>KRAS</i>), <i>isocitrate dehydrogenase 1</i> (<i>IDH1</i>), and <i>AT-rich interactive domain-containing protein 1A</i> (<i>ARID1A</i>). The rate of mutations varies significantly for each population. Targeting <i>TP53</i> and <i>KRAS</i> is challenging due to the natural characteristics of these genes. Different stages of clinical studies have shown encouraging results with inhibitors of mutated <i>IDH1</i> and target therapy for <i>ARID1A</i> downstream effectors. <i>Fibroblast growth factor receptor 2</i> (<i>FGFR2</i>) fusions are an important target in patients with ICC. Immune checkpoint blockade can be applied to a small percentage of ICC patients. Molecular profiling in ICC represents a groundbreaking approach to understanding and managing this complex liver cancer. As our comprehension of ICC’s molecular intricacies continues to expand, so does the potential for offering patients more precise and effective treatments. The integration of molecular profiling into clinical practice signifies the dawn of a new era in ICC care, emphasizing personalized medicine in the ongoing battle against this malignancy.https://www.mdpi.com/1422-0067/25/1/461tumor biomarkerscholangiocarcinomaliver neoplasms
spellingShingle Wellington Andraus
Francisco Tustumi
José Donizeti de Meira Junior
Rafael Soares Nunes Pinheiro
Daniel Reis Waisberg
Liliana Ducatti Lopes
Rubens Macedo Arantes
Vinicius Rocha Santos
Rodrigo Bronze de Martino
Luiz Augusto Carneiro D’Albuquerque
Molecular Profile of Intrahepatic Cholangiocarcinoma
International Journal of Molecular Sciences
tumor biomarkers
cholangiocarcinoma
liver neoplasms
title Molecular Profile of Intrahepatic Cholangiocarcinoma
title_full Molecular Profile of Intrahepatic Cholangiocarcinoma
title_fullStr Molecular Profile of Intrahepatic Cholangiocarcinoma
title_full_unstemmed Molecular Profile of Intrahepatic Cholangiocarcinoma
title_short Molecular Profile of Intrahepatic Cholangiocarcinoma
title_sort molecular profile of intrahepatic cholangiocarcinoma
topic tumor biomarkers
cholangiocarcinoma
liver neoplasms
url https://www.mdpi.com/1422-0067/25/1/461
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