Search bioRxiv⌕ Search

bioRxiv · 10.1101/236745

Wnt signalling drives context-dependent differentiation or proliferation in neuroblastoma

Abstract

Neuroblastoma is one of the commonest and deadliest solid tumours of childhood, and is thought to result from disrupted differentiation of the developing sympathoadrenergic lineage of the neural crest. Neuroblastoma exhibits intra-and intertumoural heterogeneity, with high risk tumours characterised by poor differentiation, which can be attributable to MYCN-mediated repression of genes involved in neuronal differentiation. MYCN is known to co-operate with oncogenic signalling pathways such as Alk, Akt and MEK/ERK signalling, and, together with c-MYC has been shown to be activated by Wnt signalling in various tissues. However, our previous work demonstrated that Wnt3a/Rspo2 treatment of some neuroblastoma cell lines can, paradoxically, decrease c-MYC and MYCN proteins. This prompted us to define the neuroblastoma-specific Wnt3a/Rspo2-driven transcriptome using RNA sequencing, and characterise the accompanying changes in cell biology.\n\nHere we report the identification of ninety Wnt target genes, and show that Wnt signalling is upstream of numerous transcription factors and signalling pathways in neuroblastoma. Using live-cell imaging, we show that Wnt signalling can drive differentiation of SK-N-BE(2)-C and SH-SY5Y cell-lines, but, conversely, proliferation of SK-N-AS cells. We show that cell-lines that differentiate show induction of pro-differentiation BMP4 and EPAS1 proteins, which is not apparent in the SK-N-AS cells. In contrast, SK-N-AS cells show increased CCND1, phosphorylated RB and E2F1 in response to Wnt3a/Rspo2, consistent with their proliferative response, and these proteins are not increased in differentiating lines. By meta-analysis of the expression of our 90 genes in primary tumour gene expression databases, we demonstrate discrete expression patterns of our Wnt genes in patient cohorts with different prognosis. Furthermore our analysis reveals interconnectivity within subsets of our Wnt genes, with one subset comprised of novel putative drivers of neuronal differentiation repressed by MYCN. Assessment of {beta}-catenin immunohistochemistry shows high levels of {beta}-catenin in tumours with better differentiation, further supporting a role for canonical Wnt signalling in neuroblastoma differentiation.

Source connections

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Szemes, M., Greenhough, A., Melegh, Z., Malik, S., Yuksel, A., Catchpoole, D., Gallacher, K., Kollareddy, M., Park, J. H., Malik, K.. 2018-01-12. Wnt signalling drives context-dependent differentiation or proliferation in neuroblastoma. https://doi.org/10.1101/236745

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

KEEP EXPLORING

Related preprints

TROP2 and immune gene expression by African ancestry in triple-negative breast cancer

Purpose: TROP2 is a treatment target in triple-negative breast cancer (TNBC). TACSTD2 encodes TROP2, while PDCD1 encodes the immune protein PD-1. We investigated whether these genes differ by race or African genetic ancestry and whether the reported link between higher TACSTD2 and lower immune-gene expression partly reflects the mixture of cells in tumor samples. Methods: We analyzed TNBC tumors from TCGA (n = 107) and GSE268851 (n = 253; ancestry data for 229), together with spatial, normal-breast, and protein datasets. Regression models adjusted for age, tumor stage, and a score based on epithelial gene expression. We compared TACSTD2 with other epithelial markers using paired bootstrap analysis. Results: TACSTD2 was detected in nearly all tumors, with no significant differences by race or ancestry. Higher African ancestry was linked to higher PDCD1 expression in TCGA (P = 0.00039), but not in GSE268851. In GSE268851, higher TACSTD2 remained associated with lower CD8A, GZMB, and cytotoxic score after epithelial adjustment (all q < 0.003). These associations were stronger than those for EPCAM; the CD8A association was also stronger than that for KRT8. TACSTD2 was 1.55-fold higher in TNBC than in normal breast and correlated with TROP2 protein (Spearman rho = 0.74). Conclusion: TACSTD2 was widely expressed in the TNBC groups studied, while the ancestry-PDCD1 association differed between cohorts. Epithelial gene expression did not fully explain some negative TACSTD2-immune associations, and some were stronger than those for other epithelial markers such as EPCAM.

cancer biology↗

Quantifying subcellular organization from localization to co-occurrence with InSpace

Cell identity and function depend not only on molecular abundance, but also on how molecules are organized within cells. Although spatial transcriptomics now resolves individual RNA molecules within cells, routine computational workflows reduce these measurements to cell-by-gene count matrices, retaining abundance while discarding information about intracellular localization and molecular co-occurrence. This loss of spatial information creates a need for scalable methods that preserve subcellular detail and enable comparisons across diverse cellular morphologies. Therefore, we present InSpace, a scalable framework for quantifying these complementary dimensions of subcellular organization. InSpace-R maps transcripts onto a continuous radial coordinate anchored to nuclear and cell boundaries, while InSpace-C measures distance-dependent co-occurrence or depletion of molecular pairs. Simulations and orthogonal biochemical references support accurate measurements, with scalability demonstrated on datasets containing 275 million transcripts. RNA-RNA and RNA-DNA analyses recover organelle-linked neighbourhoods and associations between nascent transcripts and their genomic origins. Analysis of B and plasma cells across 58 tumour datasets spanning 12 cancer types reveals that reduced MHC-II transcript abundance accompanies more peripheral localization and stronger mutual co-occurrence, separating these transcripts from a program enriched for ER-targeted proteins. InSpace makes intracellular organization accessible alongside abundance, enabling discovery of spatial programs that distinguish cellular states and generate hypotheses about their functional specialization.

cancer biology↗

Age-based shifts in multicellular community organization and abundance in HPV-Negative Head and Neck Cancer

Aging represents a fundamental driver of cancer risk and progression, yet the mechanisms by which aging reshapes the tumor microenvironment remain incompletely understood. To interrogate how aging alters cellular and microenvironmental organization in cancer, we developed an integrated single-cell atlas of HPV-negative head and neck squamous cell carcinoma (HNSCC) encompassing 73 patients aged 18-91 years. Using a multi-layered computational framework combining NMF-based module discovery and partial correlation network analysis, we reveal that age-associated differences in tumor composition are driven primarily by selective shifts in cell type abundance and organization rather than widespread age-dependent transcriptional rewiring. We identify an age-enriched cellular community centered on basal-like squamous epithelial states linked to epithelial-mesenchymal transition, matrix-associated myofibroblast-like CAFs, and FOLR2+ macrophages, which secrete immunosuppressive and ECM-remodeling factors. Cross-dataset in-silico validation via TCGA transcriptomes, spatial transcriptomics, and mouse tumor models confirms the correlation of these cell types across patients, specific ligand-receptor usage, and increased proportions of epithelial and stromal cells in aged mouse models. Among epithelial cell-intrinsic age-associated transcriptional changes, midkine (MDK) emerges as a rare but robust tumor-derived signal linked to stromal remodeling, immunosuppression, and invasive epithelial programs. These findings reveal conserved mechanisms of age-dependent cellular reorganization in the tumor microenvironment and identify MDK and associated stromal-remodeling pathways as potential intervention points for age-stratified cancer therapy.

cancer biology↗