bioRxiv Science⌕ Search

bioRxiv · 10.1101/2025.08.27.672711

Aberrant Hippo-YAP/TEAD signaling drives malignant transcriptional reprogramming in external auditory canal squamous cell carcinoma

Abstract

PurposeExternal auditory canal squamous cell carcinoma (EACSCC) is an extremely rare malignancy. The molecular characteristics and evidence-based therapeutic strategies of EACSCC still remain to be elucidated. Experimental DesignComprehensive analyses of RNA sequencing (RNA-seq) and ChIP sequencing (ChIP-seq) utilizing YAP and H3K27Ac antibodies were performed in primary EACSCC and noncancerous ear skin samples. Functional experiments were performed in EACSCC-derived cells and Head and Neck Squamous Cell Carcinoma (HNSCC) cells in vitro and in vivo. Immunohistochemical staining of primary EACSCC tissues as well as survival analysis were conducted. ResultsRNA-seq indicated hyperactivation of YAP/TEAD-mediated transcriptional programs in EACSCC. H3K27Ac ChIP-seq suggested gained accessibility for transcription factor (TF) binding sites for TEAD, AP-1 and PITX TFs in EACSCC, and presence of EACSCC-specific super enhancers (SEs). YAP-bound SEs were involved in oncogenic transcription, including EGFR signaling. Small molecule TEAD inhibitor (smTEADi) VT104 showed significant suppression of proliferation and clonogenicity in EACSCC cells. Importantly, smTEADi not only inhibited YAP-TEAD interaction but also induced YAP-PITX2 binding, suggesting that PITX2 could represent an alternative partner TF of YAP under TEAD-inhibited conditions. Knockdown of PITX2 inhibited cell growth and migration of EACSCC and HNSCC cells, whereas overexpression of PITX2 induced expression of cell cycle, stemness, and EMT genes, as well as YAP/TAZ-TEAD target genes, and promoted tumor growth in vivo. Nuclear YAP and PITX2 expression were significantly correlated with poor prognosis of EACSCC patients. ConclusionsThis study highlighted the hyperactivation of the YAP-TEAD/PITX2 transcriptional program and its potential as a therapeutic target in EACSCC. Translational RelevanceExternal auditory canal squamous cell carcinoma (EACSCC) is an extremely rare malignancy related to chronic tissue damage and inflammation. Due to its rarity, the molecular characteristics of EACSCC are poorly understood, and evidence-based therapeutic strategies are not fully developed. Here, we provide evidence of hyperactivation of YAP/TEAD-driven transcriptional programs in EACSCC, utilizing comprehensive analyses of RNA-seq and YAP/H3K27Ac ChIP-seq in clinical tissue samples, as well as in vitro and in vivo experiments. In addition, our data suggest that the PITX2 transcription factor (TF) could represent an alternative partner TF of YAP under TEAD-inhibited conditions, which may rescue oncogenic transcription of TEAD. Importantly, YAP and PITX2 are co-expressed in EACSCC and predict poor prognosis of EACSCC patients. Our results provide a rationale for YAP-hyperactivation in EACSCC and contribute to a better understanding of this malignancy and the development of new therapeutic strategies.

Source connections

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Sato, K., Komune, N., Ono, M., Hongo, T., Nakano, T., Koike, K., Itoyama, S., Taguchi, K., Mimori, K., Gutkind, J. S., Masuda, M., Nakagawa, T.. 2025-09-01. Aberrant Hippo-YAP/TEAD signaling drives malignant transcriptional reprogramming in external auditory canal squamous cell carcinoma. https://doi.org/10.1101/2025.08.27.672711

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

KEEP EXPLORING

Related preprints

Ex vivo human tumor slices more accurately predict patient responses to an oncolytic virus than in vivo mouse models

Immunotherapies, including oncolytic viruses (OV), are promising therapies that can enhance anti-tumor immune responses. However, preclinical success of immunotherapies in mouse models has not always translated to clinical benefit in cancer patients. This study compared preclinical efficacy and mechanism of action for ASP9801, a vaccinia virus expressing IL-7 and IL-12, using mouse models of colorectal cancer (CRC) in vivo and in human organotypic tumor slice models ex vivo. The murine surrogate for ASP9801 significantly reduced tumor volumes in treated and abscopal tumors in two different CRC models in vivo (MC38 and RO100). Treatment efficacy was accentuated when combined with anti-PD1 treatment, and single-cell RNA sequencing analysis revealed depletion of tumor cells and increased T cell infiltration and activation in both treated and abscopal tumors. However, human tissue analysis ex vivo (E-slices) using PDX models and patient samples showed that ASP9801 is not effective in CRC, consistent with clinical trial results. On the other hand, ASP9801 was highly effective in GBM, indicating indication-specific efficacy of ASP9801, and how E-slice assays can be used to identify treatment-sensitive indications. This study demonstrates the superiority of E-slices over mouse models for predicting clinical response and its utility in planning clinical trials.

cancer biology↗

Immune-cell depleted diffuse large B-cell lymphomas have reduced expression of MHC class I

Immunotherapy has transformed treatment for many cancers. In the aggressive and genetically heterogeneous diffuse large B-cell lymphoma (DLBCL), CD19 CAR T-cell therapy is highly effective, whereas immune checkpoint blockade has shown limited benefit. Loss of MHC expression is a common mechanism to escape T-cell cytotoxicity, and loss of MHC class I (MHC-I) and II are frequent in DLBCL. We applied imaging mass cytometry to diagnostic biopsies from younger, high-risk DLBCL patients to map the tumor microenvironment (TME) spatial architecture in relation to tumor cell MHC expression, mutational status, transcriptomic and proteomic profiles. Neighborhood analyses identified four TME subtypes: immune-cell depleted and three immune-infiltrated types (mixed, CD4 T cell-rich, CD8 T-cell/macrophage-rich). Depleted cases had shorter overall survival (p = 0.033) and increased expression of proteins involved in DNA replication and proliferation markers compared to infiltrated cases. Tumor cell MHC-I expression was heterogeneous. Cases with low frequency of MHC-I-pos tumor cells were enriched for the depleted TME type. MHC-I-pos tumor cells were surrounded by CD4 and CD8 T cells and M1 macrophages, whereas MHC-I-neg tumor cells were closer to other MHC-I-neg tumor cells. These findings suggest that TME-based classification incorporating tumor cell MHC-I status may improve individualized immunotherapy selection.

cancer biology↗

Cross-species analysis links cell-cell communication rewiring to NOTCH2 during serous endometrial carcinogenesis

Cell-cell interactions shape the fate of mutant cells during cancer initiation but how these interactions evolve during progression to pathologically recognizable lesions remain poorly understood. Here, we investigated cell-cell communication during serous endometrial carcinoma (SEC; also known as uterine serous carcinoma) development using a lineage-traceable mouse model and cross-species analyses of the mouse and human neoplastic endometrium. In mice, the early, pre-dysplastic stage was marked by a global decrease in inferred cell-cell interactions, followed by extensive communication network rewiring during neoplastic progression. Pathway-specific analysis revealed a similar pattern for NOTCH signaling, with NOTCH2 emerging as the dominant NOTCH receptor in Trp53/Rb1-mutant immature epithelial cells. Functionally, NOTCH2 promoted the outgrowth of more proliferative mutant organoids. Cross-species transcriptomic analysis identified conserved immature epithelial states in mouse and human neoplastic endometrial epithelium. In human tissues, NOTCH2 was overexpressed in serous endometrial intraepithelial carcinoma, a precursor of SEC, and in overt SEC. Furthermore, elevated NOTCH2 expression was associated with poor patient survival. These findings link cell-cell communication rewiring during experimental SEC development to conserved neoplastic epithelial states and identify NOTCH2 as an early marker and a potential target of disease interception.

cancer biology↗