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...

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Bibliographic Details
Published in:Scientific reports Vol. 9; no. 1; pp. 13261 - 11
Main Authors: 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.
Format: Journal Article
Language:English
Published: London Nature Publishing Group UK 13.09.2019
Nature Publishing Group
Subjects:
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Aged
Bile Duct Neoplasms - blood
Bile Duct Neoplasms - diagnosis
Bile Duct Neoplasms - genetics
Biomarkers, Tumor - blood
Biomarkers, Tumor - genetics
Chemotherapy
Cholangiocarcinoma
Cholangiocarcinoma - blood
Cholangiocarcinoma - diagnosis
Cholangiocarcinoma - genetics
Circulating Tumor DNA - blood
Circulating Tumor DNA - genetics
Diagnosis
DNA, Neoplasm - blood
DNA, Neoplasm - genetics
Female
Gene frequency
Genotyping
High-Throughput Nucleotide Sequencing
Humanities and Social Sciences
Humans
Male
multidisciplinary
Mutation
Science
Science (multidisciplinary)
Tumor Burden
Tumors
ISSN:2045-2322, 2045-2322
Online Access:Get full text
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Summary: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.
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ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-019-49860-0