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Background <p>Cholangiocarcinoma carries a poor prognosis, and surgical resection remains the only curative option. Microsatellite instability-high (MSI-H) is a rare molecular subtype in intrahepatic cholangiocarcinoma (ICC). Although immune checkpoint inhibitors (ICIs) are effective in MSI-H malignancies, responses are variable. We report a rare case of MSI-H ICC that developed hyperprogressive disease (HPD) following pembrolizumab.</p> Case presentation <p>An 81-year-old man with a history of endoscopic submucosal dissection for esophageal cancer underwent surveillance computed tomography (CT), which revealed a liver mass with intrahepatic bile duct dilation. Tumor markers were elevated (CA19-9: 214.9 U/mL). Suspecting ICC, liver resection was performed, achieving R0 resection. However, recurrence in the liver and hilar lymph nodes occurred within months. Systemic chemotherapy was ineffective. Genomic profiling (FoundationOne® CDx) revealed MSI-H, and pembrolizumab was initiated. After two cycles, rapid tumor progression was observed, with a ≥ twofold increase in tumor growth rate, consistent with HPD, along with new liver, bone, and peritoneal metastases. The patient died shortly thereafter.</p> Conclusion <p>This case highlights the paradoxical response to ICIs in ICC, demonstrating that MSI-H status does not preclude HPD. Further investigation of the tumor immune microenvironment is warranted.</p>

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Paradoxical hyperprogressive disease in MSI-high intrahepatic cholangiocarcinoma treated with pembrolizumab

  • 期刊论文

  • 发表日期：

    2026年6月14日

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  • Takayuki Tanaka,
  • Yorihisa Sumida,
  • Takahiro Ikeda,
  • Akiko Fukuda,
  • Makoto Hisanaga,
  • Kohki Wakata,
  • Masato Araki,
  • Hiroko Hayashi,
  • Kosuke Nakamura,
  • Masaaki Hidaka

摘要

Background

Cholangiocarcinoma carries a poor prognosis, and surgical resection remains the only curative option. Microsatellite instability-high (MSI-H) is a rare molecular subtype in intrahepatic cholangiocarcinoma (ICC). Although immune checkpoint inhibitors (ICIs) are effective in MSI-H malignancies, responses are variable. We report a rare case of MSI-H ICC that developed hyperprogressive disease (HPD) following pembrolizumab.

Case presentation

An 81-year-old man with a history of endoscopic submucosal dissection for esophageal cancer underwent surveillance computed tomography (CT), which revealed a liver mass with intrahepatic bile duct dilation. Tumor markers were elevated (CA19-9: 214.9 U/mL). Suspecting ICC, liver resection was performed, achieving R0 resection. However, recurrence in the liver and hilar lymph nodes occurred within months. Systemic chemotherapy was ineffective. Genomic profiling (FoundationOne® CDx) revealed MSI-H, and pembrolizumab was initiated. After two cycles, rapid tumor progression was observed, with a ≥ twofold increase in tumor growth rate, consistent with HPD, along with new liver, bone, and peritoneal metastases. The patient died shortly thereafter.

Conclusion

This case highlights the paradoxical response to ICIs in ICC, demonstrating that MSI-H status does not preclude HPD. Further investigation of the tumor immune microenvironment is warranted.