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| Item Type: | Article |
|---|---|
| Title: | Genotyping of circulating tumor DNA in cholangiocarcinoma reveals diagnostic and prognostic information |
| Creators Name: | 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. and Berger, A.W. |
| Abstract: | 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. |
| Keywords: | Bile Duct Neoplasms, Cholangiocarcinoma, Circulating Tumor DNA, High-Throughput Nucleotide Sequencing, Mutation, Neoplasm DNA, Tumor Biomarkers, Tumor Burden |
| Source: | Scientific Reports |
| ISSN: | 2045-2322 |
| Publisher: | Nature Publishing Group |
| Volume: | 9 |
| Number: | 1 |
| Page Range: | 13261 |
| Date: | 13 September 2019 |
| Official Publication: | https://doi.org/10.1038/s41598-019-49860-0 |
| PubMed: | View item in PubMed |
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