Skip to content

Tumor-intrinsic signaling

Confidently known

  • human STK11/LKB1 co-mutation with KRAS in lung adenocarcinoma drives primary PD-1/PD-L1 resistance despite TMB-intermediate/high status (Skoulidis 2018)1. The "KL" subgroup had ORR 7.4% vs 35.7% for KRAS/TP53-comutated ("KP") tumors; replicated in multiple subsequent NSCLC cohorts and used in trial stratification.
  • human PTEN loss drives ICI resistance in melanoma via PI3K-AKT activation, VEGF/CCL2 secretion, reduced autophagy-dependent killing, and reduced CD8 infiltration (Peng 2016)2. Replicated in melanoma and pan-cancer.

Human-study evidence

Study N Feature Effect 95% CI / p Method
Skoulidis 2018 SU2C + CheckMate-057 KRAS-mutant NSCLC ICI cohorts STK11/LKB1 co-mutation (KL subgroup) ORR KL 7.4% vs KP 35.7% (SU2C); 0% vs 57.1% (CheckMate-057) P<0.001 targeted/WES + clinical correlation
Peng 2015 n=39 (small melanoma anti-PD-1 cohort) tumor PTEN loss CD8 infiltration / PFS direction reduced intratumoral CD8, worse PFS IHC + clinical correlation

Contradictions / surprises

  • mouse WNT/β-catenin activation — strong mouse biology, weaker clinical signal. Spranger 2015 established that melanoma β-catenin activation excludes CD103+ Batf3+ DCs via reduced CCL43. Clinical cohorts show weaker, more context-dependent correlations. WNT-inhibitor + ICI combinations have been limited by toxicity; β-catenin status is not a clinical biomarker.
  • human PBRM1 LOF as ICI sensitizer in ccRCC has not replicated. Miao 20184 found PBRM1 LOF enriched in responders in two cohorts. Subsequent CheckMate-009/010/025 (Braun 2020 Nat Med) and IMmotion analyses did not confirm the predictive value.
  • human IPRES signature underperformed as an independent predictor. Hugo 20165 defined an EMT/wound-healing/ECM/angiogenesis transcriptional signature in innately resistant melanoma. Subsequent validation has been mixed — IPRES overlaps heavily with TGF-β and stromal signatures and adds little above CD8, PD-L1, TMB, or pan-fibroblast measures.
  • human BRCA2 association with ICI response did not replicate (from the same Hugo paper).

Human-study evidence

Study N Feature Effect 95% CI / p Method
Miao 2018 n=98 (discovery n=35 + validation n=63 ccRCC on anti-PD-1 ± anti-CTLA-4) PBRM1 LOF clinical-benefit enrichment enriched among responders P=0.012 (discovery); P=0.0071 (validation) WES
Hugo 2016 n=38 (pretreatment melanoma biopsies on anti-PD-1) IPRES transcriptional signature (EMT / ECM / angiogenesis / wound-healing) response direction IPRES-high enriched among non-responders bulk RNA-seq + WES

Suspected but unconfirmed

  • mouse Lactate → AARS1 → PD-L1 K280 lactylation stabilizes PD-L1 against HUWE1-mediated degradation6 — but exogenous lactate paradoxically enhances anti-PD-L1 efficacy preclinically. The paradox must be reconciled before clinical translation. Directly implicates metabolic inputs in checkpoint protein turnover.
  • mouse HILPDA-sustained KLF5-driven fatty acid synthesis palmitoylates PD-L1 at Cys272, stabilizing membrane PD-L17. TRIM21 engagement by fenretinide degrades HILPDA and restores anti-PD-1 efficacy in breast cancer mouse models. A post-translational PD-L1 regulatory layer distinct from transcriptional control. Preclinical; single tumor type; fenretinide has prior clinical exposure which helps translation.
  • human NOTCH3 → RBPJ → PVR → TIGIT in CRC8: tumor-intrinsic NOTCH3 transcriptionally upregulates PVR, engaging TIGIT on CD8 cells. Low/mutant NOTCH3 predicts better ICB survival in 102-patient + MSKCC cohorts. No pharmacologic NOTCH3 inhibitor tested in vivo.

Human-study evidence

Study N Feature Effect 95% CI / p Method
Ma 2026 n=102 (institutional CRC cohort + MSKCC pan-cancer validation) NOTCH3 mutation or low expression OS direction improved on ICB targeted sequencing + IHC + RNA-seq

Emerging

  • mouse PKMYT1 inhibition with clinical-grade RP-6306 activates cGAS-STING in castration-resistant prostate cancer9. Type I/II IFN signaling upregulates CCL5/CXCL10, enhances CD8 infiltration, and potentiates anti-PD-L1 in syngeneic models. Prostate cancer has been stubbornly ICI-refractory; a druggable cell-cycle-kinase–innate-sensing connection is clinically provocative.

Human-study evidence

No human-study citations in this section.

Theme

The emerging literature in this period is heavily focused on post-translational regulation of PD-L1 (palmitoylation, lactylation) as a distinct layer from transcriptional control. If these preclinical mechanisms yield clinical PTM-modulating strategies, they would complement rather than replace PD-L1-targeting antibodies. None is clinical yet.



  1. Skoulidis 2018 Cancer Discov. Link

  2. Peng 2016 Cancer Discov. Link

  3. Spranger 2015 Nature. Link

  4. Miao 2018 Science. Link

  5. Hugo 2016 Cell IPRES. Link

  6. AARS1 PD-L1 K280 lactylation. Link

  7. HILPDA-KLF5 PD-L1 palmitoylation. Link

  8. NOTCH3-PVR-TIGIT. Link

  9. PKMYT1-cGAS-STING in CRPC. Link