Histopathology confirmed the diagnosis of teratoid medulloepithelioma in both cases and genetic testing found a germline DICER1 mutation in one of them. These cases highlight the importance of considering medulloepithelioma in the differential diagnosis of intraocular tumours and underscore the value of genetic evaluation for underlying DICER1 mutations.
Detection of these two proteins in the context of VM suggests that VM-forming cancer cells recruit pericytes to enhance channel formation and stability. To our knowledge, this is the first report providing evidence of VM in equine cancer, and more generally, SCC in animals.
14 days ago
Journal
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CD31 (Platelet and endothelial cell adhesion molecule 1) • PECAM1 (Platelet And Endothelial Cell Adhesion Molecule 1)
A 48-year-old man with stage IV cutaneousmelanoma with BRAF V600E mutation achieved complete systemic remission with vemurafenib...Sub-Tenon's triamcinolone and intravenous immunoglobulin failed toimprove symptoms, but bilateral intravitreal dexamethasone implants (Ozurdex) resolved visual disturbances and normalized ERG...The absence of autoantibodies and late flares challenges current diagnostic paradigms, emphasizing ERG's critical role. Proactive ophthalmologic surveillance and individualized local therapy canpreserve vision in this underrecognized condition.
In addition, comparative analyses revealed conserved gene signatures in human basal cell carcinoma of the eyelids, emphasizing the importance of canine models in translational oncology. This comprehensive molecular characterization provides new insights into the pathogenesis of canine eyelid melanoma and identifies key biomarkers and pathways that may be relevant for future therapeutic interventions in veterinary and comparative oncology.
Further, the 15-GEP support vector machine discriminant score predicts small tumors undergoing transformation from low-risk Class 1 to high-risk Class 2 profile. These results shed light on the early genetic evolution of UM and move us closer to a molecular definition of malignant transformation in this cancer type.
This pilot study reports on cfDNA methylation signatures that differentiates UM patients from HBDs, and may distinguish between intermediate and high risk UM subgroups, supporting its prognostic potential. However, its role in monitoring disease progression requires further validation. Independent replication studies are warranted to confirm our findings and evaluate the clinical applicability in UM.