ArticleOncology letters2022
Low prevalence of biliary tract cancer with defective mismatch repair genes in a Japanese hospital-based population.
Article in Oncology letters, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Pooled it
- Molecular biomarkers for diagnosis, prognosis, precision therapy, and immunotherapy in cholangiocarcinoma, cHCC-CCA, and HCC.Hepatology communications · 2026Review
- Prognostic, Predictive, and Clinical Relevance of DNA Damage Repair Alterations in Biliary Tract Cancers.Cancers · 2026Review
- Efficacy and safety of immune checkpoint inhibitors in patients with high microsatellite instability/mismatch repair-deficient advanced cholangiocarcinoma: A propensity score-matched study.JHEP reports : innovation in hepatology · 2026Article
- Microsatellite-high intrahepatic cholangiocarcinoma with favorable treatment outcome using pembrolizumab.Clinical journal of gastroenterology · 2025Article
- Targeted Therapies in Advanced Cholangiocarcinoma.Life (Basel, Switzerland) · 2023Review
- Discordant microsatellite instability findings in two samples from a patient with biliary cancer that responded to pembrolizumab.Clinical journal of gastroenterology · 2023Article
- Clinical characteristics of pancreatic and biliary tract cancers in Lynch syndrome: A retrospective analysis from the Finnish National Lynch Syndrome Research Registry.Frontiers in oncology · 2023Article
- Clinical features of biliary tract cancer in Japanese individuals with Lynch syndrome.Journal of gastrointestinal oncology · 2022Article
- Long-Term Survival of a Lynch Syndrome Patient With Eight Primary Tumors: A Case Report.Frontiers in oncology · 2022Article
- Pathological Complete Response following Pembrolizumab Combined with Gemcitabine and Cisplatin Therapy for Initially Unresectable Intrahepatic Cholangiocarcinoma: A Case Report.Case reports in oncologyArticle
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent studies have reported that immune checkpoint inhibitors are effective against various defective mismatch repair (dMMR)/microsatellite instability-high (MSI-H) cancers. A limited number of reports are available on the frequency of dMMR/MSI-H carcinoma in biliary tract cancer (BTC), describing its clinicopathological characteristics and prognosis. The latter carcinoma is also associated with Lynch syndrome (LS). The present study was performed to investigate the frequency of patients with dMMR/MSI-H in BTC and the clinical characteristics of BTC with dMMR/MSI-H in a single institution in Japan. A total of 116 patients with BTC who underwent curative surgical resection at Kagawa University Hospital between January 2008 and December 2017 were included. The protein expression levels of the mismatch repair (MMR) genes [mutL homolog 1 (MLH1), mismatch repair endonuclease PMS2 (PMS2), MutS homolog (MSH)2 and MSH6] were assessed by immunohistochemistry (IHC) using formalin-fixed paraffin-embedded tissue specimens. Subsequently, MSI testing was performed on patients who exhibited loss of MMR protein expression. Loss of expression of one or more proteins was detected in five cases (4.3%). Loss of MLH1/PMS2 expression was observed in one case of intrahepatic cholangiocarcinoma, whereas loss of PMS2 expression was noted in one case of perihilar cholangiocarcinoma. Loss of MSH2/MSH6 and MSH6 expression was noted in two cases of distal cholangiocarcinoma and loss of PMS2 expression in one case of ampullary carcinoma. Out of the five patients, two demonstrated MSI-H. Microsatellite stability was observed in two cases and for one case, no data were available. Two MSI-H cases were patients with loss of expression of MLH1/PMS2 and MSH2/MSH6. None of the five patients exhibited a past medical history or family history of suspected LS. The frequency of dMMR in BTC was ~5%, which was similar to that reported by similar studies performed in other countries. In the present study, IHC appeared to be more useful than MSI testing for detecting MMR abnormalities with regards to the detection rate. Furthermore, there may only be a limited number of patients with BTCs who are likely to benefit from the therapeutic effects of treatment with immune checkpoint inhibitors.
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