Association between tumor genomic mutations and the risk of PD-1 inhibitor-induced hypophysitis: a retrospective cohort study - Takeaways - MDSpire

Association between tumor genomic mutations and the risk of PD-1 inhibitor-induced hypophysitis: a retrospective cohort study

  • By

  • Yuanyuan Zheng

  • Yizhen Chen

  • Wei Lin

  • Le Min

  • June 8, 2026

  • 0 min

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  • 1

    This study analyzed 82 patients treated with PD-1 inhibitors, identifying 26 who developed hypophysitis and 56 matched controls.

  • 2

    The hypophysitis group exhibited a higher tumor mutational burden (6.02 vs. 5.19 mut/Mb, P = 0.002) compared to controls.

  • 3

    Significant mutations in BABAM1, KDM5C, CDH4, and TAL1 were more prevalent in the hypophysitis group, indicating potential genomic associations.

  • 4

    PAXIP1 mutations were more common in the non-hypophysitis group, suggesting a possible protective role against hypophysitis.

  • 5

    The findings propose a genomic framework for future studies on endocrine immune-related adverse events in patients receiving PD-1 inhibitors.

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