Frontiers in oncology · 2025
Case Report: Medullary carcinoma of the pancreas with MLH1 promoter hypermethylation, induced deficient mismatch repair, successfully treated with an immune checkpoint inhibitor.
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Ohtsubo Koushiro, Sato Shigeki, Sakaguchi Hiroyuki, Kotani Hiroshi, Nishiyama Akihiro, Yamashita Kaname, Yano Seiji, Toshima Fumihito, Inoue Dai, Gabata Toshifumi, Ikeda Hiroko, Watanabe Atsushi, Notohara Kenji, Fujisawa Takao, Nakamura Yoshiaki, Yoshino Takayuki, Miyake Kunio, Miwa Kazuhiro, Takeuchi Shinji
Аннотация
We report the case of a 75-year-old woman with a pancreatic body mass. Pathological findings from endoscopic ultrasonography-guided fine-needle aspiration revealed medullary carcinoma of the pancreas (MCP). Deficient mismatch repair (dMMR) and high microsatellite instability (MSI-H) were identified through immunohistochemistry and next generation sequencing, respectively. While immunohistochemistry suggested MLH1 abnormality, no MLH1 mutation was; hypermethylation of the MLH1 promoter was later confirmed via bisulfite sequencing. The patient initially received nab-paclitaxel plus gemcitabine, achieving tumor shrinkage. Upon tumor regrowth, she was treated with the anti-programmed cell death-1 immune checkpoint inhibitor (ICI) pembrolizumab, which resulted in significant tumor reduction. This is the first case report of MCP with dMMR/MSI-H due to MLH1 promoter hypermethylation, effectively treated with an ICI.