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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.
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.
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.
Shares Circulating tumour DNA (ctDNA), Biliary tract cancer (cholangiocarcinoma), Gallbladder cancer.
Shares Circulating tumour DNA (ctDNA), Biliary tract cancer (cholangiocarcinoma), Gallbladder cancer.
Shares Circulating tumour DNA (ctDNA), Liquid biopsy (ctDNA).
Shares Circulating tumour DNA (ctDNA), Liquid biopsy (ctDNA), Biliary tract cancer (cholangiocarcinoma), Gallbladder cancer.
Shares Circulating tumour DNA (ctDNA), Liquid biopsy (ctDNA).
Shares Circulating tumour DNA (ctDNA), Liquid biopsy (ctDNA), Biliary tract cancer (cholangiocarcinoma), Gallbladder cancer.
Shares Circulating tumour DNA (ctDNA), Liquid biopsy (ctDNA), Biliary tract cancer (cholangiocarcinoma), Gallbladder cancer.
Shares Circulating tumour DNA (ctDNA), Liquid biopsy (ctDNA).