2016
DOI: 10.21037/cco.2016.10.04
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Biliary carcinomas: pathology and the role of DNA mismatch repair deficiency

Abstract: The pathology of biliary carcinomas is diverse with different gross and histological features in tumors arising in the different segments of the biliary system. Various epidemiological risk factors, varied genetic makeup, and tissue microenvironment are contributory factors. As biliary tumors have been shown to be a part of the Lynch syndrome tumor spectrum, it is plausible to speculate that DNA mismatch repair (MMR) deficiency plays a role in biliary tumors. Literature data suggest that DNA MMR deficiency ind… Show more

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Cited by 144 publications
(95 citation statements)
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“…Indeed, the anti-PD-1 antibody pembrolizumab has been approved by the FDA for the treatment of patients with unresectable or metastatic MMR-deficient and/or MSI-high solid tumours that progressed after prior therapy (when no satisfactory alternative treatment is available), independent of histology — which would include those with cholangiocarcinoma (https://www.fda.gov/drugs/informationondrugs/approveddrugs/ucm279174.htm). Notably, MMR deficiency has been reported to occur in 5–10% of cholangiocarcinomas 168 . In addition to MMR deficiency, the cumulative tumour mutational burden has been correlated with responsiveness to immune-checkpoint inhibitors in some cancers, including melanoma, NSCLC, and urothelial carcinoma 169171 .…”
Section: Emerging Molecularly-directed Therapiesmentioning
confidence: 99%
“…Indeed, the anti-PD-1 antibody pembrolizumab has been approved by the FDA for the treatment of patients with unresectable or metastatic MMR-deficient and/or MSI-high solid tumours that progressed after prior therapy (when no satisfactory alternative treatment is available), independent of histology — which would include those with cholangiocarcinoma (https://www.fda.gov/drugs/informationondrugs/approveddrugs/ucm279174.htm). Notably, MMR deficiency has been reported to occur in 5–10% of cholangiocarcinomas 168 . In addition to MMR deficiency, the cumulative tumour mutational burden has been correlated with responsiveness to immune-checkpoint inhibitors in some cancers, including melanoma, NSCLC, and urothelial carcinoma 169171 .…”
Section: Emerging Molecularly-directed Therapiesmentioning
confidence: 99%
“…MMR and MSI have been suggested to be infrequent in BTCs without hereditary non-polyposis colorectal cancer (229). Results vary between series; high level MSI has been shown in 5% of gallbladder carcinoma (230), 5–13% of ECC (230, 231) and up to 10% of ICC (230). MMR status (hMLH1- and hMSH2 negativity) was shown in 51.3% and 59% of gallbladder carcinoma, and 57.1% and 65.7% of ECC, respectively (232).…”
Section: Emerging Therapiesmentioning
confidence: 99%
“…In addition to PD-L1 expression, high microsatellite instability (MSI-H) has been reported to correlate with the clinical activity of PD-1 and PD-L1 inhibitors in multiple tumor types [31][32][33]. The incidence of MSI-H in biliary tract cancer has not been comprehensively studied but is reported to be infrequent, occurring in approximately 5% or lower each for gallbladder carcinoma and extrahepatic cholangiocarcinoma and 10% or lower each for intrahepatic cholangiocarcinoma and ampullary carcinoma [34,35]. In the limited number of samples tested for MSI in our study, including the patient with an objective response, we did not observe any patients with MSI-H.…”
Section: Diseasementioning
confidence: 99%