Genotyping of circulating tumor DNA in cholangiocarcinoma reveals diagnostic and prognostic information
Comparing tumour tissue with blood in bile duct cancer patients, three quarters of mutations were found in both, rising to over nine in ten for tumours inside the liver, and the amount of tumour DNA in blood tracked tumour burden and outcome.
Overview
Tumour tissue and corresponding circulating tumour DNA samples were collected from patients with cholangiocarcinoma before and during chemotherapy and deep-sequenced for 15 genes frequently mutated in the disease; a set of ctDNA samples was also sequenced with a 710-gene panel to identify progression signatures.
Blood to tissue concordance was 74% overall and 92% for intrahepatic tumours. Variant allele frequency in ctDNA correlated with tumour load and, in intrahepatic disease, with progression-free survival. 63% of therapy-naive patients had their mutational profile change during chemotherapy, and 76 potential progression driver genes were identified among 710 candidates.
- Blood to tissue concordance 74% overall and 92% for intrahepatic cholangiocarcinoma.
- ctDNA variant allele frequency correlated with tumour load and with progression-free survival in intrahepatic disease.
- 63% of therapy-naive patients changed mutational profile during chemotherapy.
The concordance figures are the reference for how well plasma stands in for tissue in biliary cancer, and the profile changes on chemotherapy are the argument for re-testing at progression rather than treating on the diagnostic panel alone.
- Cholangiocarcinoma only, small cohort (n not stated in the abstract).
- 15-gene panel for concordance; gallbladder cancer was not studied.
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