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Even today, the mortality rate for uveal melanoma (UM) remains very high. In our research, we sought to determine which pathological and clinical features were correlated with the prognosis of UM. BAP1 (BRCA1-Associated Protein 1) gene mutation has been analyzed as one of the strongest predictors for metastasis in UM. The BAP1 gene codifies the BAP1 protein which has a tumor suppressor function. The presence of this protein can be determined by BAP1 immunohistochemical staining. Eighty-four uveal melanoma patients and forty enucleated eyeballs were examined. Metastasis was present in 24 patients. Nuclear BAP1 staining was low in 23 patients. The presence of a higher large basal diameter tumor ( < 0.001), tumor infiltrating lymphocytes ( = 0.020), and a lack of nuclear BAP1 immunostaining ( = 0.001) ocurred significantly more often in the metastatic group. Metastasis-free survival was lower in patients with low nuclear BAP1 staining ( = 0.003). In conclusion, to the best of our knowledge, this is the first time that BAP1 staining has been studied in uveal melanoma in a Spanish community. We believe that this technique should become routine in the pathological examination of uveal melanoma in order to allow adequate classification of patients and to establish an individual follow-up plan.
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http://dx.doi.org/10.3390/cancers13215347 | DOI Listing |
Cureus
August 2025
Department of Ophthalmology, Hôpital Maisonneuve-Rosemont, Montreal, CAN.
Choroidal metastasis from occult cutaneous melanoma is rare and can masquerade as ocular inflammation. A 70‑year‑old man with sectoral anterior scleritis was found on multimodal imaging to have a solitary choroidal mass with mild periscleral fluid, prompting systemic evaluation that uncovered colonic polyps that, on histopathology, contained metastatic melanoma, a scalp primary, and widespread visceral, nodal, and intracranial metastases. Tumour cells stained HMB‑45, Melan‑A, and SOX10 positive, AE1/AE3 negative, and carried an NRAS‑Q61 mutation with wild‑type BRAF, confirming cutaneous origin.
View Article and Find Full Text PDFEur J Nucl Med Mol Imaging
September 2025
Department of Dermatology and National Center for Tumor Diseases (NCT), University Hospital Heidelberg, Heidelberg, Germany.
Purpose: Tebentafusp has emerged as the first systemic therapy to significantly prolong survival in treatment-naïve HLA-A*02:01 + patients with unresectable or metastatic uveal melanoma (mUM). Notably, a survival benefit has been observed even in the absence of radiographic response. This study aims to investigate the feasibility and prognostic value of artificial intelligence (AI)-assisted quantification and metabolic response assessment of [F]FDG long axial field-of-view (LAFOV) PET/CT in mUM patients undergoing tebentafusp therapy.
View Article and Find Full Text PDFRare melanoma subtypes, including acral, mucosal, and uveal melanomas, exhibit limited responses to immune checkpoint inhibitors (ICIs), yet the molecular mechanisms of immune resistance remain poorly defined. Here, we performed transcriptomic profiling of patient-derived xenografts (PDXs) and publicly available tumor datasets to systematically compare intratumoral gene expression across cutaneous and rare melanoma subtypes. We identified a convergent downregulation of innate immune pathogen sensing (IIPS) and type I interferon signaling pathways in rare melanomas compared to cutaneous, with lower expression also observed in anti-PD-1 non-responder tumors.
View Article and Find Full Text PDFOphthalmol Retina
September 2025
Ophthalmology Division, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Ophthalmol Retina
September 2025
Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa; University of Iowa, Institute for Vision Research, Iowa City, Iowa.