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

To evaluate the association between tumor gene mutation profiles, tumor mutational burden (TMB), and the occurrence of PD-1 inhibitor-induced hypophysitis.

Key Findings:
  • The hypophysitis group had a higher overall tumor mutational burden (6.02 vs. 5.19 mut/Mb, P = 0.002).
  • Significantly higher mutation rates in genes BABAM1 (18.2% vs. 0%, P = 0.014), KDM5C (18.2% vs. 0%, P = 0.014), CDH4 (19.2% vs. 1.8%, P = 0.018), and TAL1 (19.2% vs. 1.8%, P = 0.018) were found in the hypophysitis group.
  • PAXIP1 mutations were more common in the non-hypophysitis group (19.6% vs. 0%, P = 0.037), suggesting a potential protective role.
Interpretation:

Remove this section.

Limitations:
  • The study is retrospective and conducted at a single center, which may limit generalizability.
  • The sample size is relatively small, particularly in the hypophysitis group.
Conclusion:

Revise to state only the findings without unsupported implications.

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