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Genotyping of circulating tumor DNA in cholangiocarcinoma reveals diagnostic and prognostic information
Diagnosis of Cholangiocarcinoma (CCA) is difficult, thus a noninvasive approach towards (i) assessing and (ii) monitoring the tumor-specific mutational profile is desirable to improve diagnosis and tailor treatment. Tumor tissue and corresponding ctDNA samples were collected from patients with CCA p...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744511/ https://www.ncbi.nlm.nih.gov/pubmed/31519967 http://dx.doi.org/10.1038/s41598-019-49860-0 |
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author | Ettrich, T. J. Schwerdel, D. Dolnik, A. Beuter, F. Blätte, T. J. Schmidt, S. A. Stanescu-Siegmund, N. Steinacker, J. Marienfeld, R. Kleger, A. Bullinger, L. Seufferlein, T. Berger, A. W. |
author_facet | Ettrich, T. J. Schwerdel, D. Dolnik, A. Beuter, F. Blätte, T. J. Schmidt, S. A. Stanescu-Siegmund, N. Steinacker, J. Marienfeld, R. Kleger, A. Bullinger, L. Seufferlein, T. Berger, A. W. |
author_sort | Ettrich, T. J. |
collection | PubMed |
description | Diagnosis of Cholangiocarcinoma (CCA) is difficult, thus a noninvasive approach towards (i) assessing and (ii) monitoring the tumor-specific mutational profile is desirable to improve diagnosis and tailor treatment. Tumor tissue and corresponding ctDNA samples were collected from patients with CCA prior to and during chemotherapy and were subjected to deep sequencing of 15 genes frequently mutated in CCA. A set of ctDNA samples was also submitted for 710 gene oncopanel sequencing to identify progression signatures. The blood/tissue concordance was 74% overall and 92% for intrahepatic tumors only. Variant allele frequency (VAF) in ctDNA correlated with tumor load and in the group of intrahepatic CCA with PFS. 63% of therapy naive patients had their mutational profile changed during chemotherapy. A set of 76 potential progression driver genes was identified among 710 candidates. The molecular landscape of CCA is accessible via ctDNA. This could be helpful to facilitate diagnosis and personalize and adapt therapeutic strategies. |
format | Online Article Text |
id | pubmed-6744511 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-67445112019-09-27 Genotyping of circulating tumor DNA in cholangiocarcinoma reveals diagnostic and prognostic information Ettrich, T. J. Schwerdel, D. Dolnik, A. Beuter, F. Blätte, T. J. Schmidt, S. A. Stanescu-Siegmund, N. Steinacker, J. Marienfeld, R. Kleger, A. Bullinger, L. Seufferlein, T. Berger, A. W. Sci Rep Article Diagnosis of Cholangiocarcinoma (CCA) is difficult, thus a noninvasive approach towards (i) assessing and (ii) monitoring the tumor-specific mutational profile is desirable to improve diagnosis and tailor treatment. Tumor tissue and corresponding ctDNA samples were collected from patients with CCA prior to and during chemotherapy and were subjected to deep sequencing of 15 genes frequently mutated in CCA. A set of ctDNA samples was also submitted for 710 gene oncopanel sequencing to identify progression signatures. The blood/tissue concordance was 74% overall and 92% for intrahepatic tumors only. Variant allele frequency (VAF) in ctDNA correlated with tumor load and in the group of intrahepatic CCA with PFS. 63% of therapy naive patients had their mutational profile changed during chemotherapy. A set of 76 potential progression driver genes was identified among 710 candidates. The molecular landscape of CCA is accessible via ctDNA. This could be helpful to facilitate diagnosis and personalize and adapt therapeutic strategies. Nature Publishing Group UK 2019-09-13 /pmc/articles/PMC6744511/ /pubmed/31519967 http://dx.doi.org/10.1038/s41598-019-49860-0 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article Ettrich, T. J. Schwerdel, D. Dolnik, A. Beuter, F. Blätte, T. J. Schmidt, S. A. Stanescu-Siegmund, N. Steinacker, J. Marienfeld, R. Kleger, A. Bullinger, L. Seufferlein, T. Berger, A. W. Genotyping of circulating tumor DNA in cholangiocarcinoma reveals diagnostic and prognostic information |
title | Genotyping of circulating tumor DNA in cholangiocarcinoma reveals diagnostic and prognostic information |
title_full | Genotyping of circulating tumor DNA in cholangiocarcinoma reveals diagnostic and prognostic information |
title_fullStr | Genotyping of circulating tumor DNA in cholangiocarcinoma reveals diagnostic and prognostic information |
title_full_unstemmed | Genotyping of circulating tumor DNA in cholangiocarcinoma reveals diagnostic and prognostic information |
title_short | Genotyping of circulating tumor DNA in cholangiocarcinoma reveals diagnostic and prognostic information |
title_sort | genotyping of circulating tumor dna in cholangiocarcinoma reveals diagnostic and prognostic information |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744511/ https://www.ncbi.nlm.nih.gov/pubmed/31519967 http://dx.doi.org/10.1038/s41598-019-49860-0 |
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