Increased amyloid precursor protein (APP), including both mRNA and protein expression, has been linked to glioblastoma (GBM) yet the physiological effects are poorly understood. In this study, we investigated the relationship between APP protein abundance and mRNA expression in GBM. Gene set enrichment analysis revealed significant positive enrichment of neuron projection and synaptic junction gene sets from Gene Ontology. Additionally, several immune-related processes were negatively enriched, suggesting a broad immune suppression associated with increased presence of APP. These findings suggest a multi-faceted role of APP, linking its presence to modulation of synaptic activity as well as the immune microenvironment in GBM tumors.
Papillary thyroid carcinoma (PTC) presents a significant health concern, particularly among Hispanic women in the United States, who exhibit a disproportionately higher chance of developing an advanced disease when compared to the non-Hispanic population. Emerging evidence suggests coagulation factor X, encoded by the F10 gene, has a potential role in inhibiting cancer cell migration. However, comprehensive investigations into the differential expression patterns of F10 in Hispanic versus non-Hispanic females remain limited. RNA-sequencing data were acquired from the TCGA database for white female patients, 166 non-Hispanic and 25 Hispanic. A statistically significant (p < 0.05) 2.06-fold increase in F10 expression levels was detected in disease-free tumors compared to recurrent PTC tumors. Furthermore, an increase in F10 gene expression levels was also observed, corresponding to approximately a 1.74-fold increase in non-Hispanic patients compared to Hispanic patients. The probability of tumor recurrence was 1.82 times higher in the cohort with low expression of F10 compared to the high-expression cohort, correlating with the lower disease-free rates observed in the Hispanic patient cohort when compared to non-Hispanics. This finding underscores the relevance of ethnic disparities in molecular profiles for understanding cancer susceptibility. Identifying F10 as a potential prognostic biomarker highlights avenues for targeted interventions and contributes to improving diagnostic and treatment strategies for diverse patient populations.
Glioblastoma (GBM), an aggressive form of brain cancer, has a higher incidence in non-Hispanics when compared to the US Hispanic population. Using data from RT-PCR analysis of 21 GBM tissue from Hispanic patients in Puerto Rico, we identified significant correlations in the gene expression of focal adhesion kinase and proline-rich tyrosine kinase (PTK2 and PTK2B) with NGFR (nerve growth factor receptor), PDGFRB (platelet-derived growth factor receptor B), EGFR (epithelial growth factor receptor), and CXCR1 (C-X-C motif chemokine receptor 1). This study further explores these correlations found in gene expression while accounting for sex and ethnicity. Statistically significant (p < 0.05) correlations with an r value > ±0.7 were subsequently contrasted with mRNA expression data acquired from cBioPortal for 323 GBM specimens. Significant correlations in Puerto Rican male patients were found between PTK2 and PTK2B, NGFR, PDGFRB, EGFR, and CXCR1, which did not arise in non-Hispanic male patient data. The data for Puerto Rican female patients showed correlations in PTK2 with PTK2B, NGFR, PDGFRB, and EGFR, all of which did not appear in the data for non-Hispanic female patients. The data acquired from cBioPortal for non-Puerto Rican Hispanic patients supported the correlations found in the Puerto Rican population for both sexes. Our findings reveal distinct correlations in gene expression patterns, particularly involving PTK2, PTK2B, NGFR, PDGFRB, and EGFR among Puerto Rican Hispanic patients when compared to non-Hispanic counterparts.
31 August 2025 in Theoretical Medicine and Bioethics
Gliomas, the most common primary brain tumors, present significant diagnostic and treatment challenges due to their infiltrative nature and heterogeneity. Our previous research revealed that glioma tumors in both animals and humans accumulate beta-amyloid protein (Aβ), detectable through immunohistochemical methods or staining with amyloid-specific dyes. We hypothesize that beta-amyloid-specific dyes could serve as glioma markers, potentially enabling the delineation of glioma tumors or targeted therapeutics delivery. In this study, the specificity and blood-brain barrier permeability of two fluorescent beta-amyloid-specific dyes, Brilliant Blue G (BBG) and BODIPY-based Amyloid Probe-1 (BAP-1), were evaluated in C57Bl/6 mouse glioma implantation models using GL261 and KR158 glioma cells. The findings demonstrate that both BBG and BAP-1 selectively stain gliomas, providing a clear contrast from normal brain tissue. The study results open avenues for further development of glioma visualization methods and targeted therapeutic delivery strategies for clinical applications.
15 January 2025 in Clinical and Experimental Dermatology
Melanoma is a leading cause of cancer-related deaths and is frequently driven by mutations in the BRAF and NRAS genes. These mutations disrupt key cellular signalling pathways that promote tumour growth and metastasis, but they have distinct biological and clinical implications, particularly in their response to treatment and impact on patient prognosis. The epithelial–mesenchymal transition (EMT) is a process in which epithelial cells undergo changes in response to specific transcription factors. There are currently few studies investigating the EMT within BRAF and NRAS mutations. The aim of this study was to further elucidate activation of the EMT pathway in metastatic melanoma, focusing on BRAF- and NRAS-mutated samples from The Cancer Genome Atlas. Gene Set Enrichment Analysis revealed that BRAF mutations were more significantly associated with increased EMT activation relative to all other mutations in the dataset. In contrast, NRAS mutations were not significantly associated with gene expression of the EMT pathway, suggesting alternative mechanisms for metastasis.