É um tipo de câncer (melanoma) que se origina nas células que dão cor aos olhos (melanócitos), localizadas na úvea, que é uma parte do olho. É o tumor primário mais comum dentro do olho nos Estados Unidos e na Europa Ocidental. Assim como o melanoma de pele, é raro na África e na Ásia. Os exames para o diagnóstico incluem: o exame de fundo de olho (oftalmoscopia), a angiografia com fluoresceína e o ultrassom. O tratamento pode incluir: a remoção cirúrgica do olho (enucleação), a iridociclectomia (cirurgia para retirar parte da íris e do corpo ciliar) e a ressecção (retirada) do tumor. Tratamentos mais recentes também incluem radioterapia ou fotocoagulação (com laser). A classificação dos melanomas da úvea identifica quatro tipos de células nesses tumores: epitelióide, intermediário, de células mistas e fusiforme. Os melanomas de úvea do tipo fusiforme são ainda subdivididos em tipo A e tipo B.
Introdução
O que você precisa saber de cara
É um tipo de câncer (melanoma) que se origina nas células que dão cor aos olhos (melanócitos), localizadas na úvea, que é uma parte do olho. É o tumor primário mais comum dentro do olho nos Estados Unidos e na Europa Ocidental. Assim como o melanoma de pele, é raro na África e na Ásia. Os exames para o diagnóstico incluem: o exame de fundo de olho (oftalmoscopia), a angiografia com fluoresceína e o ultrassom. O tratamento pode incluir: a remoção cirúrgica do olho (enucleação), a iridociclectomia (cirurgia para retirar parte da íris e do corpo ciliar) e a ressecção (retirada) do tumor. Tratamentos mais recentes também incluem radioterapia ou fotocoagulação (com laser). A classificação dos melanomas da úvea identifica quatro tipos de células nesses tumores: epitelióide, intermediário, de células mistas e fusiforme. Os melanomas de úvea do tipo fusiforme são ainda subdivididos em tipo A e tipo B.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 19 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:32494006, PubMed:34822310, PubMed:36104565). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing
NucleusNucleus speckle
Plays a role in coupling actin fibers to cell junctions in endothelial cells, via its interaction with AMOTL2 and CDH5 (By similarity). May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity)
Cell junction, tight junctionCell membrane
Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:34556863, PubMed:35672283, PubMed:37991948). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:37991948). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:37991948). The alpha subunit has a low GTPase activity
Cell membraneGolgi apparatusNucleusNucleus membrane
Capillary malformations, congenital
A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity.
Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:31073061). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:31073061). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:31073061). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, t
Cell membraneCytoplasm
Hypocalciuric hypercalcemia, familial 2
A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.
Receptor for cysteinyl leukotrienes. The response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Stimulation by BAY u9773, a partial agonist, induces specific contractions of pulmonary veins and might also have an indirect role in the relaxation of the pulmonary vascular endothelium. The rank order of affinities for the leukotrienes is LTC4 = LTD4 >> LTE4
Cell membrane
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
160 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
21 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Melanoma uveal
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 3.680
Percutaneous hepatic perfusion combined with ipilimumab and nivolumab for metastatic uveal melanoma (CHOPIN): a single-centre, open-label, randomised, phase 2 trial.
Percutaneous hepatic perfusion can lead to meaningful hepatic tumour control in metastatic uveal melanoma, but its benefit is confined to liver metastases and does not address extrahepatic disease. Immune checkpoint inhibitors ipilimumab and nivolumab show limited activity in uveal melanoma, although retrospective studies suggest improved outcomes when combined with liver-directed therapies. This study aimed to evaluate the efficacy and safety of combining percutaneous hepatic perfusion with ipilimumab and nivolumab. In this investigator-initiated, single-centre, open-label, randomised, phase 2 trial, adults aged 18-80 years with unresectable liver-only or liver-dominant metastatic uveal melanoma, WHO performance status 0-1, and with no previous systemic therapy were randomly assigned (1:1) to receive percutaneous hepatic perfusion alone (perfusion group) or percutaneous hepatic perfusion combined with ipilimumab plus nivolumab (combination group). Two perfusions with melphalan (3 mg/kg; maximum 220 mg) were scheduled in weeks 1 and 7. The combination group also received intravenous ipilimumab (1 mg/kg) and nivolumab (3 mg/kg) once every 3 weeks in weeks 0, 3, 6, and 9 without maintenance therapy. The primary endpoint, 1-year progression-free survival, was analysed in the intention-to-treat population; the safety analysis included all treated patients and was prospectively collected and graded using Common Terminology Criteria for Adverse Events version 5.0. The trial is registered with ClinicalTrials.gov (NCT04283890) and EudraCT (2018-004248-49) and is ongoing but no longer enrolling. Between Dec 10, 2020, and Nov 15, 2024, 80 patients were screened, of whom 76 were eligible and assigned to the combination group (n=38) or perfusion group (n=38), including 49 (64%) men and 27 (36%) women. Median follow-up was 24·9 months (IQR 15·4-36·0). 1-year progression-free survival was 54·7% (95% CI 36·8-69·5) with combination therapy versus 15·8% (5·8-30·1) with perfusion alone (adjusted hazard ratio 0·34 [95% CI 0·19-0·60]; p=0·0002). Grade 3-4 treatment-related adverse events occurred in 31 (82%) of 38 patients with combination therapy compared to 15 (41%) of 37 patients with perfusion alone, due to both a higher incidence of severe perfusion-related events and immunotherapy-related adverse events. The most common grade 3-4 adverse events were thrombocytopenia (13 [34%] in the combination group vs five [14%] in the perfusion group), leukopenia (ten [26%] vs five [14%]), γ-glutamyl transferase increase (seven [18%] vs three [8%]), and anaemia (five [13%] vs one [3%]). One treatment-related death (due to triple M syndrome) occurred in the combination group. Adding ipilimumab and nivolumab to percutaneous hepatic perfusion significantly improved progression-free survival, but with a higher rate of adverse events. The combination therapy offers a promising new treatment paradigm for patients with metastatic uveal melanoma. These results would ideally be validated in larger, multicentre randomised trials; however, conducting such studies is challenging due to the low incidence of uveal melanoma. Leiden University Medical Centre, Delcath Systems, and Bristol Myers Squibb.
Exosome-Based Approaches in Regenerative Medicine and Targeted Therapy for Eye Malignancies: A Comprehensive Review.
Diagnosing and treating ocular malignancies-such as uveal melanoma, retinoblastoma, intraocular lymphoma, and conjunctival tumors-can be very difficult given their rarity, complicated pathophysiology, and a high potential for complications that threaten vision or life. Traditional treatments such as chemotherapy, radiation, and surgery result in limited clinical value because of systemic toxicity, versatile drug resistance, and insufficient local control. Exosomes (EXOs)-naturally occurring nanoscale vesicles held in biocompatible structures-represent a uniquely advantageous platform for targeting and delivering miRNAs, proteins and/or gene editing molecules across ocular barriers to create corrective, sustained, and targeted diagnostics, drug delivery, and immune modulation. Mesenchymal stem cell-derived exosomes (MSC-EXOs) also possess regenerative potential in both animal and human models of retinal and ocular injury, engaging biological pathways involved in modulating inflammation and neuroprotection such as HMGB1 and PI3K/AKT pathways. While the use of EXOs presents a promising option for ocular treatment application, several factors complicate actual clinical translation, including standardization of isolation, scalable manufacture, and regulatory issues. In general, EXO-based nanomedicine may be a promising new direction for precision therapy and regenerative ophthalmology with the increasing introduction of synthetic and bioengineered EXOs introducing precursor paving new avenues for clinically scalable and biologically customizable EXO therapeutics.
RAB1A is a novel vulnerability in uveal melanoma revealed by dual inhibition of MNK1/2 and mTOR.
Uveal melanoma (UM) is an eye cancer that is fatal upon metastasis to the liver. Most treatments trialed in UM fail to provide therapeutic benefit; thus, there is an urgent need for novel treatment strategies. The MAPK and PI3K signaling pathways, key molecular drivers found to be hyper-activated in UM, converge on the MNK1/2-eIF4E and mTORC1/2-4EBP axes. Here, we demonstrate that the pharmacologic inhibition of MNK1/2 in combination with an mTOR inhibitor impairs clonogenic outgrowth and UM cell invasion. Using proteomic analyses, we reveal that combined MNK1/2 and mTOR inhibition disrupts ER-to-Golgi protein vesicle trafficking mainly due to downregulated RAB1A expression, a master regulator of intracellular protein transport. We further uncover that the knockdown of RAB1A blocks liver metastasis, a result that is recapitulated by combined pharmacologic inhibition of MNK1/2 and mTOR. Finally, we show that RAB1A expression reshapes the surfaceome by increasing the abundance of plasma membrane proteins associated with poor overall survival in UM, highlighting its potential as a biomarker. This study identifies protein vesicle transport as an unrecognized vulnerability in UM and supports a mechanistic rationale for targeting MNK1/2 and mTOR in metastatic UM.
Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
Europe's Beating Cancer Plan is a substantial European Union (EU) investment into cancer prevention and treatment. Integration of genetic services towards personalised cancer prevention and care is a flagship of this plan. Genetic counselling is critical to this integration, facilitating informed patient decision making and improved clinical management. However, growing demands for genetic testing and concurrently increasing workforce shortages necessitate new strategies to equitably ensure sustainable access to counselling across the EU. This project aimed to inform future European activities by identifying priority European strategies for addressing common European genetic literacy, workforce, and reimbursement barriers to genetic counselling in cancer noted in prior work. A Delphi survey was conducted, with genetics, oncology, and patient stakeholders invited from all EU Member States. The response rate was 62% (124 total invitations). Over three phases, 77 participants - 28 geneticists; 14 oncologists; 18 genetic counsellors; 16 patient representatives; 1 otherwise qualified expert - rated 19 strategies according to their Importance, Urgency, and Feasibility and selected their top three priority strategies. Five strategies met pre-defined consensus thresholds and received a clear plurality of priority ratings: (1) EU-wide genetic counsellor recognition; (2) Including genetics expertise in oncology guideline creation; (3) Shared EU genetic counsellor registration/education with legal weight; (4) Mandatory counselling reimbursement when clinical guidelines are met; (5) Mandatory inclusion of genetics in oncology fellowship/continuing education. Results provide a roadmap of European actions which promise to sustainably improve access to genetic counselling in cancer care. Upcoming and ongoing EU projects promise to advance their implementation.
MTG2 as a Causal and Druggable Target in Uveal Melanoma via Mitochondrial DNA Dynamics: Evidence From Functional Validation and DMSA Identification.
Mitochondrial dysfunction is increasingly recognized as a pivotal factor in cancer pathogenesis. We thus explored the causal role of mitochondrial-related genes (MRGs) in uveal melanoma (UM) and the underlying mechanisms. We performed Mendelian randomization (MR) analysis using 1693 cis-expression quantitative trait loci (cis-eQTLs) of MRGs as instrumental variables and genome-wide association data (GWAS) of UM. Colocalization analysis assessed whether gene expression and UM risk shared a common causal variant. Further, mediation MR and in vitro functional assays were used to validate key findings and explore their biological relevance. A molecular docking-based virtual screening strategy, followed by experimental validation, was used to identify potential therapeutic compounds. MR analysis identified 57 MRGs significantly associated with UM risk after Bonferroni correction (P < 0.05/1693). Among them, MTG2 or GTPBP5, encoding a mitochondrial ribosome-associated GTPase, showed strong colocalization with UM susceptibility (PP.H4 = 75%). Silencing MTG2 in UM cell lines induced PARP cleavage and markedly suppressed cell proliferation and colony formation. Mediation analysis revealed that mitochondrial DNA (mtDNA) heteroplasmy at chrM:567 (A:ACCCCCC) partially mediates MTG2's effect on UM (4%). Moreover, both genetically driven analysis and qPCR confirmed a positive association between MTG2 expression and mtDNA copy number. Notably, dimercaptosuccinic acid (DMSA), identified as a potential MTG2 inhibitor, reduced MTG2 levels and promoted apoptosis in UM cells. Our integrative genomic and experimental approach uncovers MTG2 as a causal contributor to UM pathogenesis, potentially through modulation of mtDNA heteroplasmy and copy number. DMSA emerges as a promising therapeutic agent targeting mitochondrial dysregulation in UM.
Publicações recentes
A CRISPR-Cas13d cancer therapeutic enables selective elimination of uveal melanoma.
Hepatic metastasis surveillance in uveal melanoma: a retrospective cohort study from a UK tertiary centre (2006-2022).
Trends in incidence and survival for uveal melanoma in Norway, 1993-2021.
Comparative Proteomic Profiling of Microdissected Spindle and Epithelioid Uveal Melanoma Subtypes.
CDK6/4 inactivates BAP1 deubiquitinase destabilizing VHL to promote metastatic colonization in liver.
📚 EuropePMC4.230 artigos no totalmostrando 192
Intractable Elevated Intraocular Pressure during Plaque Brachytherapy for Posterior Choroidal Tumors: A Case Report.
Ocular oncology and pathologyPrediction of progression of hepatic metastases from uveal melanoma using gadoxetic acid-enhanced magnetic resonance imaging.
Melanoma research["AMM updates" section of the journal Bulletin du Cancer: Feedback from the contributing authors].
Bulletin du cancerFerroptosis-related ceRNA axis regulates the apoptosis and proliferation of uveal melanoma cells through MAPRE2.
Functional & integrative genomicsPhase I trial of locoregional administration of autologous tumor-infiltrating lymphocytes in patients with uveal melanoma and liver metastases (the HAITILS trial).
Journal for immunotherapy of cancer[Association of clinical and morphological tumor characteristics with the status of chromosomes 1, 3, and 8 in iris melanoma].
Vestnik oftalmologii[MicroRNA deregulation as a method for assessing the effectiveness of brachytherapy for choroidal melanoma].
Vestnik oftalmologiiMulti-omics data reveal B cell regulated immune heterogeneity of MIF signaling pathway in uveal melanoma.
Cancer cell internationalPercutaneous hepatic perfusion with melphalan in liver metastatic uveal melanoma and viscoelastic hemostatic assays guided coagulation assessment for thrombocytopenia.
Melanoma researchUC2288 decreases the viability and metastatic activity of human Uveal melanoma cells via activating the AMPK/eIF2/ATF4 ER stress axis.
European journal of pharmacologyComparison of MOLES and MelAInoma for Differentiating Small Choroidal Melanomas from Nevi.
CancersAdverse Events and Toxicity of Systemic Treatments for Uveal Melanoma: A Systematic Review.
CancersAssociations of Social and Demographic Factors on the Outcomes of Ocular Melanoma and Other Adult Ocular Neoplasms in the United States: A Systematic Review.
Cochrane evidence synthesis and methodsStatement of Retraction: MicroRNA-592 serves as a novel tumor suppressor in Uveal melanoma: bioinformatics analysis and in vitro cell function verification.
BioengineeredRectus Muscle Metastasis from Primary Uveal Melanoma: A Case Series and Literature Review.
Ocular oncology and pathologyUveal melanoma associated with Nevus of Ota in a German Shepherd dog.
Australian veterinary journalThe latest in vitro models for novel uveal melanoma drug discovery: how effective are they and what needs to be done?
Expert opinion on drug discoveryUtility value reporting in uveal melanoma: a critical gap for cost-effectiveness analyses.
Eye (London, England)A Rare Case of Paraneoplastic Raynaud's Phenomenon and Uveal Melanoma.
Acta dermatovenerologica Croatica : ADCThe complement system contributes to the immunosuppressive microenvironment of uveal melanoma.
Journal of translational medicineUveal Melanoma: Changing Paradigms of Treatment.
Ocular oncology and pathologyTolerability and efficacy of chemosaturation in combination with systemic therapy for metastatic uveal melanoma.
International journal of cancerPrognostic, chemotherapy and immunotherapy roles of GPR37/GPR37L1 in pan-cancer.
MedicineIntravitreal delivery of LATS1 mRNA by lipid nanoparticles as an effective strategy for uveal melanoma therapy.
Journal of controlled release : official journal of the Controlled Release SocietyPercutaneous hepatic perfusion combined with ipilimumab and nivolumab for metastatic uveal melanoma (CHOPIN): a single-centre, open-label, randomised, phase 2 trial.
The Lancet. OncologyNew directions in combination treatment of uveal melanoma with liver metastases.
The Lancet. OncologyTotal tumor volume and growth rate at 3 months on MRI outperform baseline imaging and circulating tumor DNA for predicting survival of patients with metastatic uveal melanoma receiving tebentafusp.
Diagnostic and interventional imagingIntegrated Transcriptomic Analysis Identifies Immune Remodeling and Prognostic Signatures in Uveal Melanoma.
International journal of genomicsRecent advances in the molecular genetic mechanisms and immune microenvironment of uveal melanoma.
Melanoma researchRisk and Protective Factors for Uveal Melanoma: Evidence for a Protective Role of Autoimmune and Immune-mediated Conditions.
Journal of the American Academy of DermatologyUveal melanoma: Treatment approaches and prognostic outcomes based on the American joint committee on cancer staging.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Precision Oncology in Ocular Melanoma: Integrating Molecular and Liquid Biopsy Biomarkers.
Current issues in molecular biologyChromosome 3p Deletion Leads to Extensive Genomic Alterations in Diverse Cancers and Confers Synthetic Lethality in Uveal Melanoma.
CancersTebentafusp-associated dermatological adverse events in patients with metastatic uveal melanoma: a single-center retrospective cohort study.
Melanoma researchROS-Activated Peptide-Based Prodrug for Chemoselective Covalent Targeting in Cancer Cells.
Journal of medicinal chemistryPaediatric uveal melanoma in Ireland 2010 - 2024: incidence, clinical features, management, and outcomes.
Eye (London, England)Integrative transcriptomic and machine learning analysis identifies CDH17 and HOXC13 as robust candidate prognostic biomarkers in uveal melanoma.
Computers in biology and medicineCurrent Therapies and Potential Strategies for Uveal Melanoma.
Drugs and drug candidatesExosome-Based Approaches in Regenerative Medicine and Targeted Therapy for Eye Malignancies: A Comprehensive Review.
Eye and brainEmerging biomarkers in melanoma: Bridging molecular discovery and precision oncology.
Cancer lettersBAP1 Loss Induces Senescence and Enhances the Response to Radiation Therapy and Senolytics.
bioRxiv : the preprint server for biologyThe evolution of treatment for uveal melanoma.
Clinical advances in hematology & oncology : H&OPTCOG Ocular Survey - Perspective on Ocular Particle Therapy: Current Practices and Emerging Trends.
International journal of particle therapyIndependent validation of time to treatment as a prognostic factor in uveal melanoma.
BMC cancerYttrium-90 Radioembolization as a Safe and Effective Treatment Option for Hepatic Uveal Melanoma Metastases.
Cardiovascular and interventional radiologyPharmacological inhibition of histone deacetylase 6 and DNA damage repair enhances radiosensitivity in melanoma.
Cancer lettersRAB1A is a novel vulnerability in uveal melanoma revealed by dual inhibition of MNK1/2 and mTOR.
Cell death and differentiationTransarterial Infusion of Pembrolizumab Plus TACE for Liver Metastases of Melanoma.
Cancer reports (Hoboken, N.J.)Commentary: Evaluating the efficacy and safety of tebentafusp in the treatment of metastatic uveal melanoma: a 2025 update systematic review and meta-analysis.
Frontiers in oncologyData-driven strategies for immunoradiotherapy in uveal melanoma: the role of artificial intelligence.
Frontiers in pharmacologyPriority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
European journal of human genetics : EJHGCancer Vaccine Targeting Mutated GNAQ-Expressing Uveal Melanoma.
CancersCurrent Treatment Standards for Metastatic Uveal Melanoma.
CancersUveal Melanoma: Biology, Prognostication, and Emerging Therapies to Outsmart an Immune-Cold Melanoma.
CancersReal-World Treatment Patterns and Survival in Uveal Melanoma: A Multicenter Cohort Study by the Turkish Oncology Group (TOG).
CancersMTG2 as a Causal and Druggable Target in Uveal Melanoma via Mitochondrial DNA Dynamics: Evidence From Functional Validation and DMSA Identification.
Investigative ophthalmology & visual scienceHigh frequency and unique subtypes of meningioma in patients with BAP1 tumor predisposition syndrome.
Journal of neuro-oncologyClinical outcomes of genomically guided trametinib monotherapy across cancer types: results from the IMPRESS-Norway trial.
Acta oncologica (Stockholm, Sweden)Changes in inflammatory blood parameters in patients with radiation-related complications due to radiotherapy for uveal melanoma.
Clinical & experimental optometryLigand-Based Computational Design and Preclinical Evaluation of a Novel Cyclic Peptide Radiotracer for FGFR1-Targeted PET Imaging in Uveal Melanoma.
ACS sensorsA Multi-Step Immune-Competent Genetically Engineered Mouse Model Reveals Phenotypic Plasticity in Uveal Melanoma.
Cancer researchConjunctival Melanocytic Neoplasia.
Surgical pathology clinicsMutations with prognostic value in uveal melanoma: analytical study of variants detected by targeted next-generation sequencing.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieThe Role of Virtual Clinics in Ocular Oncology.
Ocular oncology and pathologySCANDARE: an institutional dynamic prospective interventional biobanking study.
BMC cancerDiabetes mellitus is associated with earlier detection of posterior uveal melanoma.
European journal of ophthalmologyUveal Melanoma Treatment: An Update.
Clinical & experimental ophthalmologyUveal melanoma survival prediction system: a multi-center database study.
International ophthalmologyDeep learning for early diagnosis of uveal melanoma: a systematic review and meta-analysis.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoClinical Molecular Pathology and Treatment Developments in Advanced Uveal Melanoma: State of the Art.
Oncology researchCanonical and noncanonical NF-κB signaling in uveal melanoma: mechanisms, microenvironment, and therapeutic modulation.
Medical hypothesis, discovery & innovation ophthalmology journalCirculating tumor DNA accelerates diagnosis and treatment guidance for metastatic uveal melanoma with hepatic lesions not amenable to biopsy.
Melanoma researchTransscleral photodynamic therapy with a chlorin e6: An experimental study of exposure parameters and therapeutic window.
PloS oneNanotherapeutic potential in glaucoma associated ocular cancers.
Discover oncologyBispecific T-Cell Engagers, Cell Therapies, and Other Non-Checkpoint Immunotherapies for Metastatic Uveal Melanoma: A Narrative Review.
Journal of clinical medicineMachine learning identifies glycosphingolipid signature linking immune dysregulation and clinical prognosis in uveal melanoma.
Discover oncologyProfiling Serum Oxylipin Metabolites Across Melanoma Subtypes and Immunotherapy Responders.
MetabolitesCirculating Tumor Cells in Uveal Melanoma: Multi-Marker Detection and Association With Disease State.
Investigative ophthalmology & visual scienceArtificial Intelligence-Driven Differentiation Between Uveal Melanoma and Nevus Based on Fundus Photographs: A Systematic Review and Meta-Analysis.
Translational vision science & technologyUrbanization Inequalities on the Incidence of Intraocular Cancers in Iran: An 11-Year Nationwide Retrospective Ecological Study.
Journal of ophthalmic & vision researchClonal determinants of organotropism and survival in metastatic uveal melanoma.
NPJ precision oncologyEffect of radiation dosage to vital ocular structures on visual outcomes: Re-evaluation for the future.
BrachytherapyResearch on the molecular mechanism of celastrol targeting CTNNB1/STAT3 to inhibit uveal melanoma based on network pharmacology and multi-omics analysis.
Scientific reportsRadiation segmentectomy for treatment of hepatic oligometastases greater than 3 cm.
European journal of radiologyHypoxia-induced immunosuppression in uveal melanoma is mediated by CD63+ exosomes delivering lactate to reprogram immune cells.
Frontiers in molecular biosciencesDecoding HSP90AA1-driven inflammatory signaling in the uveal melanoma microenvironment: an integrated analysis at single-cell resolution.
Frontiers in immunologyStereotactic Radiosurgery Outcomes in Uveal Melanoma Patients: A 3-year Retrospective Study.
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiMulti-omics integrative analysis of stemness-associated pathological signatures to guide prognosis and therapeutic strategies in uveal melanoma.
International journal of surgery (London, England)Angiotensin II for the Treatment of Vasodilatory Shock during Percutaneous Hepatic Perfusion Cases: A Case Report.
A&A practiceASPHD1 Is a tumor-suppressive and prognostic marker in glioma.
Frontiers in oncologyComprehensive Melanoma-Related Gene Analysis of Bilateral Diffuse Uveal Melanocytic Proliferation: A Case Report.
International journal of dermatologyTumor-intrinsic redox programming drives an SPP1-CD44 axis of immune suppression in uveal melanoma.
Redox biologyExtracellular Matrix Stiffness Regulates Cancer Stemness in Uveal Melanoma via the PIEZO1-DOT1L Axis.
Investigative ophthalmology & visual scienceFeasibility of Low-Pass Whole Genome Sequencing for Detecting Somatic Copy Number Alterations in Formalin-Fixed Uveal Melanoma Specimens.
Translational vision science & technologyIntegrating multiple key molecules in uveal melanoma to uncover metastatic and immune microenvironment-related gene signatures.
International journal of ophthalmologyIntraocular metastasis from an anal squamous cell carcinoma: a case report.
Journal of gastrointestinal oncologyThe NEAT1/miR-506-3p/STAT3 axis promotes uveal melanoma progression and represents a potential therapeutic target.
Cancer cell internationalKnockdown of histone H2A deubiquitinase BAP1 in human embryonic stem cells restricts their differentiation repertoire but is dispensable for maintaining their undifferentiated state.
Biochemical and biophysical research communicationsFerroptosis dysregulation, mitochondrial dysfunction, and iron metabolism alterations are correlated with aggressiveness in uveal melanoma.
Apoptosis : an international journal on programmed cell deathEphrin Receptors and Ephrin Ligands in Uveal Melanoma: A Big Data Analysis Using Web Resources.
International journal of molecular sciencesMetastatic Uveal Melanoma Surveillance: A Delphi Panel Consensus.
CancersVitreoretinal Surgery for Intraocular Complications Following Radiotherapy Treatment of Uveal Melanoma.
CancersUnraveling Resistance Mechanisms to Gαq Pathway Inhibition in Uveal Melanoma: Insights from Signaling-Activation Library Screening.
CancersResearch progress on glycolytic reprogramming in ophthalmic diseases.
PeerJEarly Peripapillary and Macular Microvascular Changes Following Ruthenium-106 Plaque Brachytherapy For Uveal Melanomas.
American journal of ophthalmologyOutcome of Ruthenium-106 Brachytherapy for Uveal Melanoma and Retinal Vascular Tumors: A Retrospective Study.
Journal of current ophthalmologyComparative analysis of gyroscopic and robotic radiosurgery platforms for uveal melanoma treatment.
Medical dosimetry : official journal of the American Association of Medical DosimetristsSecondary Glaucoma Resulting From Choroidal Melanoma in a Patient With Congenital Nevus of Ota.
Case reports in ophthalmological medicineSubgroup analyses of the phase 3 FOCUS study of melphalan/hepatic delivery system in patients with unresectable metastatic uveal melanoma.
Journal of cancer research and clinical oncologyAutomatic classification of uveal melanoma response patterns following ruthenium-106 plaque brachytherapy using ultrasound images and deep convolutional neural network.
Scientific reportsTumors With GNAQ Mutations: A Review With a Focus on Possible Shared Neural Crest Origins.
The American Journal of dermatopathology[Tisotumab Vedotin - Metastatic or recurrent cervical cancer as second-line therapy].
Bulletin du cancerHard Truth About Surveillance for Uveal Melanoma.
Clinical & experimental ophthalmologyIntensive Surveillance and Aggressive Multimodal Treatment for Liver Metastases From Uveal Melanoma.
Annals of surgery open : perspectives of surgical history, education, and clinical approachesMulti-responsive nanocomposite hydrogel for synergistic photothermal-chemotherapy to prevent postoperative recurrence and metastasis of uveal melanoma.
Materials today. BioRegulation of BAP1 activity by novel cancer-associated glutamate residues through ubiquitin binding and PARylation.
Biochemical and biophysical research communicationsFour Months of Exercise Intervention Improved Visuomotor, Functional and Cardiorespiratory Capacity in a Patient with Metastatic Uveal Melanoma.
Reports (MDPI)Endoresection in Choroidal Melanoma: Outcomes of Intentional Incomplete Tumor Removal.
Current oncology (Toronto, Ont.)Attention-Based Multimodal Deep Learning for Uveal Melanoma Classification Using Ultra-Widefield Fundus Images and Ocular Ultrasound.
Ophthalmology scienceClinical outcomes of fractionated stereotactic radiotherapy for uveal melanoma - a Polish single-centre experience.
Contemporary oncology (Poznan, Poland)Clinical and radiomics parameter prognostication in metastatic uveal melanoma patients treated with hepatic arterial infusion chemotherapy.
The oncologistCharting the growth of programmed cell death studies in uveal melanoma: a bibliometric evidence.
Discover oncologyCompeting risk analysis of prognosis in patients with uveal melanoma.
Discover oncologyAurora Kinases in Ocular Malignancies: Functional Significance and Potential Implications.
Ocular oncology and pathologyClinical outcomes of pars plana vitrectomy with endoresection in uveal melanoma primarily treated with plaque radiotherapy or proton beam therapy.
European journal of ophthalmologyUveal Melanocytoma without GNAQ/GNA11 Mutations.
Ocular oncology and pathologyEffect of Social Determinants of Health and Geography on Uveal Melanoma.
Clinical ophthalmology (Auckland, N.Z.)Erianin Abrogates Cancerous Vasculogenic Mimicry Through Targeting m5C Methylase NSUN2 in Uveal Melanoma.
Investigative ophthalmology & visual scienceToward Precision Medicine: Gene Therapy Applications in the Management of Uveal Melanoma.
Cancer reports (Hoboken, N.J.)YTHDF3-TRIM2-P53 axis promotes malignant progression in uveal melanoma (UVM).
Cellular signallingExploring copper metabolism and cuproptosis, and their implications in ocular diseases.
European journal of pharmacologyEarly genetic evolution of driver mutations in uveal melanoma.
Nature communicationsIdentification of targetable epigenetic vulnerabilities for uveal melanoma.
Cell death & diseaseCirculating Tumor DNA Is Prognostic of Patient Outcome and Enables Therapy Monitoring in Metastatic Uveal Melanoma.
Clinical cancer research : an official journal of the American Association for Cancer ResearchMethylated CfDNA may distinguish between high- and intermediate-risk uveal melanoma: a pilot study.
Cancer cell internationalSorafenib plus selective internal radiotherapy with 90Y resin microspheres for the treatment of uveal melanoma with liver metastasis: a phase I trial.
British journal of cancerCombination of YAP inhibition and photodynamic therapy induces dual DNA damage and activates STING pathway to enhance immunotherapy in uveal melanoma.
Redox biologyGenetic Background Predicts Uveal Melanoma Patients' Outcomes.
Ophthalmology scienceSurvival Outcome After Percutaneous Hepatic Perfusion with High-Dose Melphalan for Liver-Dominant Metastatic Uveal Melanoma: A 10-Year Single-Center Experience.
CancersLinking Megalin, Cubilin, Caveolin-1, GIPC1 and Dab2IP Expression to Ocular Tumorigenesis: Profiles in Retinoblastoma, Choroidal Melanoma, and the Normal Human Eye.
CancersLoss of EHMT2 enhances NK cell-driven anti-tumor immunity through TGF-β1 suppression.
EMBO molecular medicineLongitudinal ctDNA monitoring in patients with metastatic uveal melanoma undergoing isolated hepatic perfusion in combination with ipilimumab and nivolumab.
Immuno-oncology technologySorafenib as first-line therapy for metastatic uveal melanoma: A multicenter, placebo-controlled randomized discontinuation study (STREAM).
iScienceSubconjunctival seeding of ciliary body melanoma after trabeculectomy: A surgical pitfall.
Archivos de la Sociedad Espanola de OftalmologiaMontelukast as a novel therapeutic approach in metastatic uveal melanoma harboring a CYSLTR2 mutation: a translational case report.
ESMO openExploring p53 isoforms: unraveling heterogeneous p53 tumor suppressor functionality in uveal melanoma.
Cell death discoveryPan-cancer landscape of UBD/FAT10 and experimental validation in esophageal carcinoma.
Frontiers in oncologyTebentafusp in Metastatic Uveal Melanoma: A Meta-analysis.
Targeted oncologyA prognostic model for uveal melanoma in Asian populations: a comparative analysis of clinical features and gene expression patterns using the TRACE and TCGA data.
BMC ophthalmologyMissegregation of Chromosome 3 and Generation of Monosomy 3 in the Proliferating Uveal Melanoma Cells Under Hyperglycemia.
Investigative ophthalmology & visual scienceA pan-cancer analysis to predict the prognosis and immunological role of copper death-related gene DLAT.
MedicineLetter Re: "Molecular determinants of survival in metastatic uveal melanoma: The impact of SF3B1 mutations".
European journal of cancer (Oxford, England : 1990)Clinical utility of pembrolizumab in the management of orbital recurrence of uveal melanoma: case report.
American journal of ophthalmology case reportsThe Value of Detecting and Monitoring ctDNA in Uveal Melanoma: Results of a Pilot Study and a Systematic Review.
Case reports in ophthalmologyA novel 9-gene classifier for predicting distant metastasis of soft-tissue sarcoma and multiple malignancies.
Cancer treatment and research communicationsImproved Immunohistochemistry of Mouse Eye Sections Using Davidson's Fixative and Melanin Bleaching.
Bio-protocolIntegrated Pan-Cancer Analysis and Experimental Verification of the Roles of Retinoid-Binding Proteins in Breast Cancer.
CancersOutcomes Following Treatment with Notched Proton Beams for Peripapillary Choroidal Melanomas.
CancersImplementing ocular treatment with pencil beam scanning: the FHCC experience.
Radiation oncology (London, England)Insights into shape of uveal melanoma: a comprehensive evaluation of clinical features, pathological features, and prognosis analysis.
Frontiers in medicineRestoration of BAP1 activity via base editing suppresses anchorage-independent survival in kidney cancer.
Cancer cell internationalPhenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).
Ophthalmic geneticsIntegrated bioinformatics and deep learning (MLP) approach reveals a novel five miRNA prognostic signature in uveal melanoma.
Scientific reportsCan Immune Checkpoint Modulation Redefine Ocular Immunotherapy? Emerging Mechanisms, Challenges, and Translational Opportunities-A Comprehensive Review.
Investigative ophthalmology & visual scienceDermatological Toxicities of Tebentafusp, a New Bispecific Drug: Case Series and Literature Review.
The Australasian journal of dermatologyBispecific immunotherapy based on antibodies, T-cell receptors, and aptamers: mechanisms of action, adverse effects, and future perspectives.
Frontiers in immunologyTransscleral Photodynamic Therapy with a Chlorin e6 Photosensitizer in a Rabbit Experimental Model of an Intraocular Mass Lesion.
Journal of lasers in medical sciencesCharacterization of Early Metastatic Subpopulations in Uveal Melanoma: Single-Cell Insights Into SPP1+ Cells and Their Interactions With Macrophages.
Investigative ophthalmology & visual scienceReal-World Outcomes of Ipilimumab-Nivolumab vs. Anti-PD-1 Monotherapy in Metastatic Uveal Melanoma: A Single-Center Retrospective Study.
CancersZEB1 and Uveal Melanoma Invasiveness.
International journal of molecular sciencesCharacterization of long-term survivors with liver metastases from uveal melanoma diagnosed between 2005 and 2021.
International journal of cancerBispecific antibodies in the treatment of epithelial ovarian, endometrial, and cervical cancer: an overview of current applications, challenges, and emerging opportunities.
Exploration of targeted anti-tumor therapyComprehensive molecular analysis of uveal melanoma identifies targets in tumor-intrinsic and tumor-extrinsic pathways.
iScienceAqueous humor biomarkers in ocular oncology: Insights and advances.
Cell reports. MedicineAn interactive and explainable AI approach to improve human-machine teaming in cancer subtyping from digital cytopathology.
Medical image analysis[How do doctors communicate results of genomic testing and its prognostic impact on uveal melanoma patients? Results of a qualitative study].
Bulletin du cancerPrognostic evaluation and experimental validation of cuproptosis-related hub genes identified through weighted gene co-expression network analysis in uveal melanoma.
Cancer cell internationalEvaluating the Impact of Age and Sex on Survival in Localised Anterior Uveal Melanoma Undergoing Eye-Preserving Interventions Within a Surveillance, Epidemiology, and End Results (SEER) Cohort.
CureusMelanoma of the Choroid and Ciliary Body in Children: Remission of Metastatic Melanoma of the Choroid After Treatment With Chemotherapy and Immune Checkpoint Inhibition.
Pediatric blood & cancerMachine Learning-Based Prediction of Local Recurrence in Uveal Melanoma After Ruthenium-106 Plaque Brachytherapy Using Ultrasound Images and Clinical Data.
Clinical oncology (Royal College of Radiologists (Great Britain))Temsirolimus targets chemoresistant uveal melanoma via mammalian target of rapamycin inhibition and enhances chemotherapy.
Anti-cancer drugsEvaluating the efficacy and safety of tebentafusp in the treatment of metastatic uveal melanoma: a 2025 update systematic review and meta-analysis.
Frontiers in oncologyS-adenosylmethionine enhances anti-PD-1 efficacy in uveal melanoma by targeting EZH2.
Discover oncologyFunctions and clinical implications of the liver microenvironment in hepatic uveal melanoma metastases.
Cancer metastasis reviewsCheckpoint Blockade Efficacy in Uveal Melanoma Is Linked to Tumor Immunity, CD28, and CCL8.
International journal of molecular sciencesDissecting Melanoma Ecosystem Heterogeneity from Molecular Characteristics to Genetic Variation at Single-Cell Resolution.
International journal of molecular sciencesThe Discovery of α-Adrenoceptor Antagonists as a Potential New Treatment Option for Uveal Melanoma.
BiomoleculesInhibition of the RAC/PAK Signaling Axis Enhances the Potency of MAPK Cascade Inhibitors Against Uveal Melanoma.
BiomoleculesTranscriptomic and Clinical Profiling Reveals LGALS3 as a Prognostic Oncogene in Pancreatic Cancer.
GenesClinical Applications of Artificial Intelligence in Uveal Melanoma.
Anticancer researchIntegrative analysis of single-cell and transcriptome RNA sequencing to establish a NAT10-related signature for prognostic prediction of uveal melanoma.
Discover oncologySurvival outcomes and prognosis predictors of uveal melanoma from Indian population.
Indian journal of ophthalmologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Percutaneous hepatic perfusion combined with ipilimumab and nivolumab for metastatic uveal melanoma (CHOPIN): a single-centre, open-label, randomised, phase 2 trial.
- Exosome-Based Approaches in Regenerative Medicine and Targeted Therapy for Eye Malignancies: A Comprehensive Review.
- RAB1A is a novel vulnerability in uveal melanoma revealed by dual inhibition of MNK1/2 and mTOR.
- Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
- MTG2 as a Causal and Druggable Target in Uveal Melanoma via Mitochondrial DNA Dynamics: Evidence From Functional Validation and DMSA Identification.
- A CRISPR-Cas13d cancer therapeutic enables selective elimination of uveal melanoma.
- Hepatic metastasis surveillance in uveal melanoma: a retrospective cohort study from a UK tertiary centre (2006-2022).
- Trends in incidence and survival for uveal melanoma in Norway, 1993-2021.
- Comparative Proteomic Profiling of Microdissected Spindle and Epithelioid Uveal Melanoma Subtypes.
- CDK6/4 inactivates BAP1 deubiquitinase destabilizing VHL to promote metastatic colonization in liver.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:39044(Orphanet)
- OMIM OMIM:155720(OMIM)
- MONDO:0006486(MONDO)
- GARD:8621(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q356372(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
