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Diagnostic and Prognostic Value of Circulating Cell-Free DNA for Cholangiocarcinoma

The analysis of cfDNA has been applied as a liquid biopsy in several malignancies. However, its value in the diagnosis and prognosis of cholangiocarcinoma (CCA) have not been well defined. We aimed to investigate the diagnostic and prognostic values of cfDNA level and tumor-specific mutation in circ...

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Autores principales: Wintachai, Preawwalee, Lim, Jing Quan, Techasen, Anchalee, Lert-itthiporn, Worachart, Kongpetch, Sarinya, Loilome, Watcharin, Chindaprasirt, Jarin, Titapun, Attapol, Namwat, Nisana, Khuntikeo, Narong, Jusakul, Apinya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8228499/
https://www.ncbi.nlm.nih.gov/pubmed/34070951
http://dx.doi.org/10.3390/diagnostics11060999
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author Wintachai, Preawwalee
Lim, Jing Quan
Techasen, Anchalee
Lert-itthiporn, Worachart
Kongpetch, Sarinya
Loilome, Watcharin
Chindaprasirt, Jarin
Titapun, Attapol
Namwat, Nisana
Khuntikeo, Narong
Jusakul, Apinya
author_facet Wintachai, Preawwalee
Lim, Jing Quan
Techasen, Anchalee
Lert-itthiporn, Worachart
Kongpetch, Sarinya
Loilome, Watcharin
Chindaprasirt, Jarin
Titapun, Attapol
Namwat, Nisana
Khuntikeo, Narong
Jusakul, Apinya
author_sort Wintachai, Preawwalee
collection PubMed
description The analysis of cfDNA has been applied as a liquid biopsy in several malignancies. However, its value in the diagnosis and prognosis of cholangiocarcinoma (CCA) have not been well defined. We aimed to investigate the diagnostic and prognostic values of cfDNA level and tumor-specific mutation in circulating DNA (ctDNA) in CCA. The plasma cfDNA levels from 62 CCA patients, 33 benign biliary disease (BBD) patients and 30 normal controls were quantified by fluorescent assay. Targeted probe-based sequencing of 60 genes was applied for mutation profiling in 10 ctDNA samples and their corresponding treatment-naïve tissues. cfDNA levels in CCA were significantly higher than those in BBD and normal controls. We found that cfDNA levels at 0.2175 and 0.3388 ng/µL significantly discriminated CCA from healthy controls and BBD with 88.7 and 82.3% sensitivity and 96.7 and 57.6% specificity, respectively. cfDNA levels showed superior diagnostic efficacy in detecting CCA compared to CEA and CA19-9. ARID1A (30%), PBRM1 (30%), MTOR (30%), and FGFR3 (30%) mutations were the most common. Using nine frequently mutated genes in the ctDNA samples, the diagnostic accuracy of cfDNA sequencing was 90.8%, with 96.7% average sensitivity and 72.4% specificity. This study supports the use of cfDNA as a diagnosis and prognostic biomarker for CCA.
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spelling pubmed-82284992021-06-26 Diagnostic and Prognostic Value of Circulating Cell-Free DNA for Cholangiocarcinoma Wintachai, Preawwalee Lim, Jing Quan Techasen, Anchalee Lert-itthiporn, Worachart Kongpetch, Sarinya Loilome, Watcharin Chindaprasirt, Jarin Titapun, Attapol Namwat, Nisana Khuntikeo, Narong Jusakul, Apinya Diagnostics (Basel) Article The analysis of cfDNA has been applied as a liquid biopsy in several malignancies. However, its value in the diagnosis and prognosis of cholangiocarcinoma (CCA) have not been well defined. We aimed to investigate the diagnostic and prognostic values of cfDNA level and tumor-specific mutation in circulating DNA (ctDNA) in CCA. The plasma cfDNA levels from 62 CCA patients, 33 benign biliary disease (BBD) patients and 30 normal controls were quantified by fluorescent assay. Targeted probe-based sequencing of 60 genes was applied for mutation profiling in 10 ctDNA samples and their corresponding treatment-naïve tissues. cfDNA levels in CCA were significantly higher than those in BBD and normal controls. We found that cfDNA levels at 0.2175 and 0.3388 ng/µL significantly discriminated CCA from healthy controls and BBD with 88.7 and 82.3% sensitivity and 96.7 and 57.6% specificity, respectively. cfDNA levels showed superior diagnostic efficacy in detecting CCA compared to CEA and CA19-9. ARID1A (30%), PBRM1 (30%), MTOR (30%), and FGFR3 (30%) mutations were the most common. Using nine frequently mutated genes in the ctDNA samples, the diagnostic accuracy of cfDNA sequencing was 90.8%, with 96.7% average sensitivity and 72.4% specificity. This study supports the use of cfDNA as a diagnosis and prognostic biomarker for CCA. MDPI 2021-05-30 /pmc/articles/PMC8228499/ /pubmed/34070951 http://dx.doi.org/10.3390/diagnostics11060999 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Wintachai, Preawwalee
Lim, Jing Quan
Techasen, Anchalee
Lert-itthiporn, Worachart
Kongpetch, Sarinya
Loilome, Watcharin
Chindaprasirt, Jarin
Titapun, Attapol
Namwat, Nisana
Khuntikeo, Narong
Jusakul, Apinya
Diagnostic and Prognostic Value of Circulating Cell-Free DNA for Cholangiocarcinoma
title Diagnostic and Prognostic Value of Circulating Cell-Free DNA for Cholangiocarcinoma
title_full Diagnostic and Prognostic Value of Circulating Cell-Free DNA for Cholangiocarcinoma
title_fullStr Diagnostic and Prognostic Value of Circulating Cell-Free DNA for Cholangiocarcinoma
title_full_unstemmed Diagnostic and Prognostic Value of Circulating Cell-Free DNA for Cholangiocarcinoma
title_short Diagnostic and Prognostic Value of Circulating Cell-Free DNA for Cholangiocarcinoma
title_sort diagnostic and prognostic value of circulating cell-free dna for cholangiocarcinoma
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8228499/
https://www.ncbi.nlm.nih.gov/pubmed/34070951
http://dx.doi.org/10.3390/diagnostics11060999
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