Search bioRxiv⌕ Search

bioRxiv · 10.1101/2024.07.07.602398

Hedgehog-Hippo pathway interactions promote T cell exclusion from the tumor microenvironment in basal cell carcinoma

Abstract

Basal cell carcinoma (BCC) is the most common non-melanoma skin cancer driven primarily by genetic activation of the Hedgehog/GLI (HH/GLI) signaling pathway. BCC also displays a high mutational burden, with frequent co-occurrence of mutations in the TP53, NOTCH, N- MYC, and Hippo/YAP pathways, though the impact of these mutations on HH/GLI-driven tumorigenesis remains poorly understood. This study examines the interaction between the HH/GLI and Hippo/YAP signaling pathways in the pathogenesis of BCC and the establishment of an immunosuppressive tumor microenvironment (TME). The study used 3D human organotypic skin models and humanized mouse models to demonstrate that co-activation of HH/GLI and Hippo/YAP in epidermal cells suppresses T cell chemotaxis. Transcriptome analysis revealed a significant downregulation of chemotactic and inflammatory genes, particularly under combined GLI-YAP activation. Analysis of primary human BCC biopsies confirmed these findings and demonstrated a marked suppression of T cell chemo-attractants, including CCL22 and CCL27. Spatial profiling of immune cells in BCC tissues revealed preferential exclusion of CD8+ T cells from the TME, which correlated with high HH/GLI and Hippo/YAP activity. Further, functional assays in humanized mice showed that the GLI-YAP interaction controls immune cell distribution by inhibiting T cell recruitment and migration into the skin. These findings suggest that cooperation between oncogenic HH/GLI and Hippo/YAP signaling contributes to the development of an immunosuppressive TME in BCC by disrupting local chemokine signaling. Understanding these mechanisms provides a basis for the development of targeted combination therapies to enhance the efficacy of existing treatments, such as Smoothened (SMO) inhibitors and immune checkpoint blockers, by promoting T cell infiltration and activation within the TME.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Aberger, F., Stockmaier, G., Varkhande, S., Krenn, P. W., Dang, H.-h., Sharma, A., Elmer, D. P., Steiner, M., Zaborsky, N., Neureiter, D., Greil, R., Horejs-Hoeck, J., Fortelny, N., Gratz, I. K.. 2024-07-07. Hedgehog-Hippo pathway interactions promote T cell exclusion from the tumor microenvironment in basal cell carcinoma. https://doi.org/10.1101/2024.07.07.602398

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related preprints

EWSR1::ATF1 hyperactivation via TRIM11 depletion triggers lethal metabolic rewiring in clear cell sarcoma

Clear cell sarcoma (CCS) is an ultra-rare and aggressive soft tissue sarcoma driven by the EWSR1::ATF1 fusion oncoprotein. Currently, no effective and well-tolerated treatment options are available to CCS patients. Direct inhibition of fusion transcription factors is precluded by the absence of defined ligand-binding pockets, whereas their abundance is under the control of the ubiquitin-proteasome system (UPS), offering an alternative avenue for biology-guided treatment. Here we show the abundance of EWSR1::ATF1 is tightly regulated by the UPS, and that release of this constraint is lethal to CCS cells. A reporter-based CRISPR/Cas9 knockout screen of UPS components identified TRIM11 as an E3 ligase that regulates turnover of EWSR1::ATF1, which it recognises as a neosubstrate without altering wild-type EWSR1 or ATF1. Depletion of TRIM11 increased nuclear fusion protein abundance, amplified the fusion-driven transcriptional programs and reduced viability. Proteomic analysis identified the cataplerotic enzyme phosphoenolpyruvate carboxykinase 1 (PCK1), a direct EWSR1::ATF1 target, as the key mediator of lethal effects of fusion hyperactivation. Extracellular flux analysis, isotope tracing and quantitative metabolomics revealed excessive cataplerotic carbon withdrawal and impaired oxidative phosphorylation as the underlying mechanism. In patient tumors, high PCK1 expression associated with metastatic transcriptome programs and disease presentation, as well as shorter survival. Taken together, we report that hyperactivation of EWSR1::ATF1 opens a metabolic vulnerability, establishing TRIM11 as an actionable dependency and PCK1 as a candidate prognostic biomarker in CCS.

cancer biology↗

Glycolysis and interferon transcription in melanoma immunotherapy

Glycolysis and interferon signalling have both been associated with responses to PD-1 blockade, but their joint transcriptional relationship with treatment outcome remains uncertain. We examined whether a state with high glycolysis and low interferon- response was associated with reduced disease control in melanoma. Fixed Hallmark gene sets were scored by single-sample gene set enrichment analysis in GSE91061, GSE78220 and an additional Liu cohort. Disease control analyses included 47, 26 and 100 patients. Conditional odds ratios for the joint state were 6.06 (exact 95% confidence interval, 1.04 to 65.61), 0.35 (0.026 to 3.11) and 1.03 (0.39 to 2.73), respectively. Holm-adjusted P values for the two initial comparisons were 0.073 and 0.365. The additional exploratory P value was 1.000. Continuous models and analyses that omitted each patient in turn did not provide consistent evidence of an adverse association. IFN scores were negatively correlated with DNA-derived tumour purity in 102 patients (Spearman {rho} = -0.671). Among 40 patients with paired biopsies, disease control was associated with higher on-treatment IFN scores after baseline adjustment, although the paired subset had lower baseline glycolysis than patients without paired profiles. In patient-level single-cell analyses, the baseline CD8 T cell correlation weakened when an alternative rank score used a common gene background. The defined joint state was not consistently associated with poorer disease control across cohorts. Bulk IFN scores were related to tumour purity, and cellular correlations were sensitive to scoring choices. These transcriptomic results do not measure pyruvate concentration, glycolytic flux or STAT1 pyruvylation.

cancer biology↗

Psychoneuroimmunology of Viral Hepatitis and Hepatocellular Carcinoma: A Systematic Review and Meta-Analysis

Hepatocellular carcinoma (HCC) and viral hepatitis (VH) are recognized primarily as hepatic diseases, yet they impose a substantial neuropsychiatric disorders (NPDs) encompassing depression, anxiety, cognitive impairment, and fatigue. Whether these manifestations reflect psychological reactions or biologically grounded psychoneuroimmune dysfunction remains poorly understood. Here, we present a pre-registered systematic review and meta-analysis (PROSPERO 2026 CRD420251081757) synthesizing evidence from 24 studies combining psychosocial outcomes with immune dysregulation markers across HCC and VH populations. Bibliometric and network analyses identified a growing psychoneuroimmunology research hub linking cytokine signaling, microglial activation, blood-brain barrier (BBB) disruption, and gut-liver-brain axis dysregulation to the neuropsychiatric phenotype of these diseases. Meta-analysis revealed a pooled hazard ratio (HR) of 1.92 (95% CI: 1.09-3.39) for adverse outcomes in HCC and a pooled HR of 2.28 (95% CI: 1.48-3.52) for depression associated to genetic variants in VH. TNF-a, but not IL-6, showed a tendency toward lower levels in VH patients with versus without NPDs, suggesting differential inflammatory roles. The literature, however, remains fragmented by heterogeneous designs and a paucity of longitudinal data. A psychoneuroimmunological approach, integrating immune, endocrine, neural, and psychosocial dimensions, is essential for capturing the full systemic impact of HCC and VH and should inform future mechanistic research and multidisciplinary clinical strategies.

cancer biology↗