Abstract
Microsatellite instability (MSI) is a key marker to predict response to immune checkpoint inhibitors; however, only 1–2% of biliary cancers have this genomic feature. In a patient with hilar biliary cancer, MSI was examined in two cancer specimens (forceps biopsy from the biliary stricture and endoscopic ultrasound-guided fine-needle aspiration biopsy [EUS-FNAB] from the adjacent lymph node). We observed discordant results, as high frequency of MSI was found only in the forceps biopsy. Although the FNAB sample was 10 times larger than that of the forceps biopsy, the tumor concentration was much lower, which is a possible reason for the discordance. Besides, immunohistochemistry of four mismatch-repair (MMR) proteins showed proficient MMR expressions. The tumor became refractory to gemcitabine, cisplatin, and S-1 but responded well to pembrolizumab. Caution is needed for sample selection and for interpretation of the test’s results, to avoid missing rare chance for effective molecular target agents.
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The authors would like to thank the staff at the Shizuoka Cancer Center Hospital for the clinical support and sample preparation.
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HM wrote the manuscript, HM, AT, HI, JS, FN, and YK managed on the resources and data curation, KS and TK worked on formal analysis and methodology, KY and HO supervised and approved the manuscript.
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Matsubayashi, H., Todaka, A., Ishiwatari, H. et al. Discordant microsatellite instability findings in two samples from a patient with biliary cancer that responded to pembrolizumab. Clin J Gastroenterol 16, 748–754 (2023). https://doi.org/10.1007/s12328-023-01833-7
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DOI: https://doi.org/10.1007/s12328-023-01833-7