Raras
Buscar doenças, sintomas, genes...
Melanoma uveal
ORPHA:39044CID-10 · C69.3CID-11 · 2D0YOMIM 155720DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Pesquisas ativas
35 ensaios
286 total registrados no ClinicalTrials.gov
Publicações científicas
6.085 artigos
Último publicado: 2026 Mar 19

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: C69.3
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Características mais comuns

90%prev.
Morfologia anormal do fundo de olho
Muito frequente (99-80%)
90%prev.
Melanoma coroide
Muito frequente (99-80%)
90%prev.
Perda visual
Muito frequente (99-80%)
55%prev.
Descolamento de retina
Frequente (79-30%)
55%prev.
Melanoma da íris
Frequente (79-30%)
55%prev.
Melanoma do corpo ciliar
Frequente (79-30%)
19sintomas
Muito frequente (3)
Frequente (3)
Ocasional (9)
Muito raro (2)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 19 características clínicas mais associadas, ordenadas por frequência.

Morfologia anormal do fundo de olhoAbnormal fundus morphology
Muito frequente (99-80%)90%
Melanoma coroideChoroidal melanoma
Muito frequente (99-80%)90%
Perda visualVisual loss
Muito frequente (99-80%)90%
Descolamento de retinaRetinal detachment
Frequente (79-30%)55%
Melanoma da írisIris melanoma
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico6.085PubMed
Últimos 10 anos200publicações
Pico2026115 papers
Linha do tempo
2026Hoje · 2026🧪 1986Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

SF3B1Splicing factor 3B subunit 1Biomarker tested inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

NucleusNucleus speckle

VIAS BIOLÓGICAS (5)
Dengue Virus-Host InteractionsmRNA Splicing - Major PathwaymRNA PolyadenylationmRNA Splicing - Minor PathwayB-WICH complex positively regulates rRNA expression
EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Endocervix
245.2 TPM
Útero
235.8 TPM
Ovário
231.2 TPM
Cervix Ectocervix
226.6 TPM
Baço
211.5 TPM
OUTRAS DOENÇAS (3)
myelodysplastic syndromeuveal melanomamyelodysplastic syndrome with ring sideroblasts
HGNC:10768UniProt:O75533
BAP1Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1Disease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

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)

LOCALIZAÇÃO

Cell junction, tight junctionCell membrane

VIAS BIOLÓGICAS (2)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksUCH proteinases
OUTRAS DOENÇAS (8)
Kury-Isidor syndromeBAP1-related tumor predisposition syndromecomplex neurodevelopmental disordermeningioma
HGNC:950UniProt:Q96QZ7
GNAQGuanine nucleotide-binding protein G(q) subunit alphaDisease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneGolgi apparatusNucleusNucleus membrane

VIAS BIOLÓGICAS (10)
PLC beta mediated eventsG-protein activationADP signalling through P2Y purinoceptor 1G alpha (q) signalling eventsThrombin signalling through proteinase activated receptors (PARs)
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
54.7 TPM
Brain Frontal Cortex BA9
54.1 TPM
Brain Spinal cord cervical c-1
53.3 TPM
Pulmão
51.6 TPM
Aorta
48.3 TPM
OUTRAS DOENÇAS (5)
Sturge-Weber syndromefamilial multiple nevi flammeianastomosing haemangiomauveal melanoma
HGNC:4390UniProt:P50148
GNA11Guanine nucleotide-binding protein subunit alpha-11Disease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneCytoplasm

VIAS BIOLÓGICAS (10)
PLC beta mediated eventsG-protein activationADP signalling through P2Y purinoceptor 1G alpha (q) signalling eventsThrombin signalling through proteinase activated receptors (PARs)
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
153.0 TPM
Cérebro - Hemisfério cerebelar
140.5 TPM
Testículo
104.7 TPM
Esôfago - Muscular
97.3 TPM
Fallopian Tube
94.3 TPM
OUTRAS DOENÇAS (8)
autosomal dominant hypocalcemia 2familial hypocalciuric hypercalcemia 2anastomosing haemangiomauveal melanoma
HGNC:4379UniProt:P29992
CYSLTR2Cysteinyl leukotriene receptor 2Disease-causing somatic mutation(s) inDesconhecido
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (4)
G alpha (q) signalling eventsLeukotriene receptorsLTC4-CYSLTR mediated IL4 productionG alpha (s) signalling events
EXPRESSÃO TECIDUAL(Tecido-específico)
Glândula adrenal
7.5 TPM
Coração - Átrio
4.8 TPM
Baço
3.1 TPM
Coração - Ventrículo esquerdo
2.8 TPM
Brain Anterior cingulate cortex BA24
1.9 TPM
OUTRAS DOENÇAS (1)
uveal melanoma
HGNC:18274UniProt:Q9NS75

Medicamentos aprovados (FDA)

2 medicamentos encontrados nos registros da FDA americana.

💊 KIMMTRAK (TEBENTAFUSP)
💊 Hepzato Kit (MELPHALAN HYDROCHLORIDE INJECTION, POWDER, LYOPHILIZED, FOR SOLUTION)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

160 variantes patogênicas registradas no ClinVar.

🧬 CYSLTR2: GRCh37/hg19 13q13.1-21.32(chr13:33738980-68435696)x1 ()
🧬 CYSLTR2: GRCh37/hg19 13q12.3-14.3(chr13:32076445-54495559)x1 ()
🧬 CYSLTR2: GRCh37/hg19 13q11-31.3(chr13:19436287-92292639)x3 ()
🧬 CYSLTR2: GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 ()
🧬 CYSLTR2: GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1 ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 34
2Fase 27
1Fase 15
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Melanoma uveal

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

🟢 Recrutando agora

20 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT06414590 · Neoadjuvant Tebentafusp for Uveal MelanomaRecrutando
PHASE2
NCT06581406 · A Randomized, Phase 2/3 Study to Investigate the Efficacy an…Recrutando
PHASE2, PHASE3
NCT03025256 · Intravenous and Intrathecal Nivolumab in Treating Patients W…Recrutando
PHASE1
NCT05524935 · Olaparib in Combination With Pembrolizumab for Advanced Uvea…Recrutando
PHASE2
NCT07276386 · Phase 2 Combination of Melphalan/HDS Via PHP + Tebentafusp i…Recrutando
PHASE2
NCT06961357 · Clinical Trial of CD40L-augmented TIL for Patients With Adva…Recrutando
PHASE1, PHASE2
NCT06550674 · Identification of New Candidate Genes for Hereditary Predisp…Recrutando
NA
NCT04119024 · Gene Modified Immune Cells After Conditioning Regimen for th…Recrutando
PHASE1
NCT07076550 · A Phase 1-1b Study to Evaluate the Safety, Efficacy and Dosi…Recrutando
PHASE1
NCT07364474 · Immune Response to Percutaneous Hepatic Perfusion With Melph…Recrutando
NA
NCT04792463 · Frequency and Clinical Phenotype of BAP1 Hereditary Predispo…Recrutando
NCT07057596 · Neoadjuvant Tebentafusp in Patients With Metastatic Uveal Me…Recrutando
PHASE2
NCT06246149 · Adjuvant Tebentafusp in High Risk Ocular MelanomaRecrutando
PHASE3
NCT06007690 · A Phase 3 Randomized, Masked, Controlled Trial to Evaluate E…Recrutando
PHASE3
NCT04855435 · Safety and Preliminary Efficacy of MBS8(1V270) in Cancer Pat…Recrutando
PHASE1
NCT06070012 · Tebentafusp in HLA-A*0201 Positive Previously Untreated Meta…Recrutando
PHASE2
NCT06627244 · Study of Tebentafusp and Radioembolization in the Treatment …Recrutando
PHASE2
NCT07421739 · Choroidal Melanoma Patient-Reported Outcome Study (CM-PRO) i…Recrutando
NCT07015190 · Neoadjuvant Darovasertib in Primary Uveal MelanomaRecrutando
PHASE3
NCT05607095 · A Study of LN-144 or LN-145 in People With Advanced Uveal Me…Recrutando
PHASE1

Outros ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
3.680 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 3.680

#1

Percutaneous hepatic perfusion combined with ipilimumab and nivolumab for metastatic uveal melanoma (CHOPIN): a single-centre, open-label, randomised, phase 2 trial.

The Lancet. Oncology2026 Mar

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.

#2

Exosome-Based Approaches in Regenerative Medicine and Targeted Therapy for Eye Malignancies: A Comprehensive Review.

Eye and brain2026

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.

#3

RAB1A is a novel vulnerability in uveal melanoma revealed by dual inhibition of MNK1/2 and mTOR.

Cell death and differentiation2026 Feb 18

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.

#4

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

European journal of human genetics : EJHG2026 Feb 13

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.

#5

MTG2 as a Causal and Druggable Target in Uveal Melanoma via Mitochondrial DNA Dynamics: Evidence From Functional Validation and DMSA Identification.

Investigative ophthalmology &amp; visual science2026 Feb 02

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

Ver todas no PubMed

📚 EuropePMC4.230 artigos no totalmostrando 192

2026

Intractable Elevated Intraocular Pressure during Plaque Brachytherapy for Posterior Choroidal Tumors: A Case Report.

Ocular oncology and pathology
2026

Prediction of progression of hepatic metastases from uveal melanoma using gadoxetic acid-enhanced magnetic resonance imaging.

Melanoma research
2026

["AMM updates" section of the journal Bulletin du Cancer: Feedback from the contributing authors].

Bulletin du cancer
2026

Ferroptosis-related ceRNA axis regulates the apoptosis and proliferation of uveal melanoma cells through MAPRE2.

Functional &amp; integrative genomics
2026

Phase 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
2026

[Association of clinical and morphological tumor characteristics with the status of chromosomes 1, 3, and 8 in iris melanoma].

Vestnik oftalmologii
2026

[MicroRNA deregulation as a method for assessing the effectiveness of brachytherapy for choroidal melanoma].

Vestnik oftalmologii
2026

Multi-omics data reveal B cell regulated immune heterogeneity of MIF signaling pathway in uveal melanoma.

Cancer cell international
2026

Percutaneous hepatic perfusion with melphalan in liver metastatic uveal melanoma and viscoelastic hemostatic assays guided coagulation assessment for thrombocytopenia.

Melanoma research
2026

UC2288 decreases the viability and metastatic activity of human Uveal melanoma cells via activating the AMPK/eIF2/ATF4 ER stress axis.

European journal of pharmacology
2026

Comparison of MOLES and MelAInoma for Differentiating Small Choroidal Melanomas from Nevi.

Cancers
2026

Adverse Events and Toxicity of Systemic Treatments for Uveal Melanoma: A Systematic Review.

Cancers
2026

Associations 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 methods
2026

Statement of Retraction: MicroRNA-592 serves as a novel tumor suppressor in Uveal melanoma: bioinformatics analysis and in vitro cell function verification.

Bioengineered
2026

Rectus Muscle Metastasis from Primary Uveal Melanoma: A Case Series and Literature Review.

Ocular oncology and pathology
2026

Uveal melanoma associated with Nevus of Ota in a German Shepherd dog.

Australian veterinary journal
2026

The latest in vitro models for novel uveal melanoma drug discovery: how effective are they and what needs to be done?

Expert opinion on drug discovery
2026

Utility value reporting in uveal melanoma: a critical gap for cost-effectiveness analyses.

Eye (London, England)
2025

A Rare Case of Paraneoplastic Raynaud's Phenomenon and Uveal Melanoma.

Acta dermatovenerologica Croatica : ADC
2026

The complement system contributes to the immunosuppressive microenvironment of uveal melanoma.

Journal of translational medicine
2025

Uveal Melanoma: Changing Paradigms of Treatment.

Ocular oncology and pathology
2026

Tolerability and efficacy of chemosaturation in combination with systemic therapy for metastatic uveal melanoma.

International journal of cancer
2026

Prognostic, chemotherapy and immunotherapy roles of GPR37/GPR37L1 in pan-cancer.

Medicine
2026

Intravitreal 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 Society
2026

Percutaneous hepatic perfusion combined with ipilimumab and nivolumab for metastatic uveal melanoma (CHOPIN): a single-centre, open-label, randomised, phase 2 trial.

The Lancet. Oncology
2026

New directions in combination treatment of uveal melanoma with liver metastases.

The Lancet. Oncology
2026

Total 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 imaging
2026

Integrated Transcriptomic Analysis Identifies Immune Remodeling and Prognostic Signatures in Uveal Melanoma.

International journal of genomics
2026

Recent advances in the molecular genetic mechanisms and immune microenvironment of uveal melanoma.

Melanoma research
2026

Risk and Protective Factors for Uveal Melanoma: Evidence for a Protective Role of Autoimmune and Immune-mediated Conditions.

Journal of the American Academy of Dermatology
2026

Uveal melanoma: Treatment approaches and prognostic outcomes based on the American joint committee on cancer staging.

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)
2026

Precision Oncology in Ocular Melanoma: Integrating Molecular and Liquid Biopsy Biomarkers.

Current issues in molecular biology
2026

Chromosome 3p Deletion Leads to Extensive Genomic Alterations in Diverse Cancers and Confers Synthetic Lethality in Uveal Melanoma.

Cancers
2026

Tebentafusp-associated dermatological adverse events in patients with metastatic uveal melanoma: a single-center retrospective cohort study.

Melanoma research
2026

ROS-Activated Peptide-Based Prodrug for Chemoselective Covalent Targeting in Cancer Cells.

Journal of medicinal chemistry
2026

Paediatric uveal melanoma in Ireland 2010 - 2024: incidence, clinical features, management, and outcomes.

Eye (London, England)
2026

Integrative transcriptomic and machine learning analysis identifies CDH17 and HOXC13 as robust candidate prognostic biomarkers in uveal melanoma.

Computers in biology and medicine
2025

Current Therapies and Potential Strategies for Uveal Melanoma.

Drugs and drug candidates
2026

Exosome-Based Approaches in Regenerative Medicine and Targeted Therapy for Eye Malignancies: A Comprehensive Review.

Eye and brain
2026

Emerging biomarkers in melanoma: Bridging molecular discovery and precision oncology.

Cancer letters
2026

BAP1 Loss Induces Senescence and Enhances the Response to Radiation Therapy and Senolytics.

bioRxiv : the preprint server for biology
2026

The evolution of treatment for uveal melanoma.

Clinical advances in hematology &amp; oncology : H&amp;O
2026

PTCOG Ocular Survey - Perspective on Ocular Particle Therapy: Current Practices and Emerging Trends.

International journal of particle therapy
2026

Independent validation of time to treatment as a prognostic factor in uveal melanoma.

BMC cancer
2026

Yttrium-90 Radioembolization as a Safe and Effective Treatment Option for Hepatic Uveal Melanoma Metastases.

Cardiovascular and interventional radiology
2026

Pharmacological inhibition of histone deacetylase 6 and DNA damage repair enhances radiosensitivity in melanoma.

Cancer letters
2026

RAB1A is a novel vulnerability in uveal melanoma revealed by dual inhibition of MNK1/2 and mTOR.

Cell death and differentiation
2026

Transarterial Infusion of Pembrolizumab Plus TACE for Liver Metastases of Melanoma.

Cancer reports (Hoboken, N.J.)
2026

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 oncology
2026

Data-driven strategies for immunoradiotherapy in uveal melanoma: the role of artificial intelligence.

Frontiers in pharmacology
2026

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

European journal of human genetics : EJHG
2026

Cancer Vaccine Targeting Mutated GNAQ-Expressing Uveal Melanoma.

Cancers
2026

Current Treatment Standards for Metastatic Uveal Melanoma.

Cancers
2026

Uveal Melanoma: Biology, Prognostication, and Emerging Therapies to Outsmart an Immune-Cold Melanoma.

Cancers
2026

Real-World Treatment Patterns and Survival in Uveal Melanoma: A Multicenter Cohort Study by the Turkish Oncology Group (TOG).

Cancers
2026

MTG2 as a Causal and Druggable Target in Uveal Melanoma via Mitochondrial DNA Dynamics: Evidence From Functional Validation and DMSA Identification.

Investigative ophthalmology &amp; visual science
2026

High frequency and unique subtypes of meningioma in patients with BAP1 tumor predisposition syndrome.

Journal of neuro-oncology
2026

Clinical outcomes of genomically guided trametinib monotherapy across cancer types: results from the IMPRESS-Norway trial.

Acta oncologica (Stockholm, Sweden)
2026

Changes in inflammatory blood parameters in patients with radiation-related complications due to radiotherapy for uveal melanoma.

Clinical &amp; experimental optometry
2026

Ligand-Based Computational Design and Preclinical Evaluation of a Novel Cyclic Peptide Radiotracer for FGFR1-Targeted PET Imaging in Uveal Melanoma.

ACS sensors
2026

A Multi-Step Immune-Competent Genetically Engineered Mouse Model Reveals Phenotypic Plasticity in Uveal Melanoma.

Cancer research
2026

Conjunctival Melanocytic Neoplasia.

Surgical pathology clinics
2026

Mutations with prognostic value in uveal melanoma: analytical study of variants detected by targeted next-generation sequencing.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2026

The Role of Virtual Clinics in Ocular Oncology.

Ocular oncology and pathology
2026

SCANDARE: an institutional dynamic prospective interventional biobanking study.

BMC cancer
2026

Diabetes mellitus is associated with earlier detection of posterior uveal melanoma.

European journal of ophthalmology
2026

Uveal Melanoma Treatment: An Update.

Clinical &amp; experimental ophthalmology
2026

Uveal melanoma survival prediction system: a multi-center database study.

International ophthalmology
2026

Deep learning for early diagnosis of uveal melanoma: a systematic review and meta-analysis.

Clinical &amp; translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
2026

Clinical Molecular Pathology and Treatment Developments in Advanced Uveal Melanoma: State of the Art.

Oncology research
2025

Canonical and noncanonical NF-κB signaling in uveal melanoma: mechanisms, microenvironment, and therapeutic modulation.

Medical hypothesis, discovery &amp; innovation ophthalmology journal
2026

Circulating tumor DNA accelerates diagnosis and treatment guidance for metastatic uveal melanoma with hepatic lesions not amenable to biopsy.

Melanoma research
2026

Transscleral photodynamic therapy with a chlorin e6: An experimental study of exposure parameters and therapeutic window.

PloS one
2026

Nanotherapeutic potential in glaucoma associated ocular cancers.

Discover oncology
2026

Bispecific T-Cell Engagers, Cell Therapies, and Other Non-Checkpoint Immunotherapies for Metastatic Uveal Melanoma: A Narrative Review.

Journal of clinical medicine
2026

Machine learning identifies glycosphingolipid signature linking immune dysregulation and clinical prognosis in uveal melanoma.

Discover oncology
2025

Profiling Serum Oxylipin Metabolites Across Melanoma Subtypes and Immunotherapy Responders.

Metabolites
2026

Circulating Tumor Cells in Uveal Melanoma: Multi-Marker Detection and Association With Disease State.

Investigative ophthalmology &amp; visual science
2026

Artificial Intelligence-Driven Differentiation Between Uveal Melanoma and Nevus Based on Fundus Photographs: A Systematic Review and Meta-Analysis.

Translational vision science &amp; technology
2025

Urbanization Inequalities on the Incidence of Intraocular Cancers in Iran: An 11-Year Nationwide Retrospective Ecological Study.

Journal of ophthalmic &amp; vision research
2026

Clonal determinants of organotropism and survival in metastatic uveal melanoma.

NPJ precision oncology
2026

Effect of radiation dosage to vital ocular structures on visual outcomes: Re-evaluation for the future.

Brachytherapy
2026

Research on the molecular mechanism of celastrol targeting CTNNB1/STAT3 to inhibit uveal melanoma based on network pharmacology and multi-omics analysis.

Scientific reports
2026

Radiation segmentectomy for treatment of hepatic oligometastases greater than 3 cm.

European journal of radiology
2025

Hypoxia-induced immunosuppression in uveal melanoma is mediated by CD63+ exosomes delivering lactate to reprogram immune cells.

Frontiers in molecular biosciences
2025

Decoding HSP90AA1-driven inflammatory signaling in the uveal melanoma microenvironment: an integrated analysis at single-cell resolution.

Frontiers in immunology
2025

Stereotactic Radiosurgery Outcomes in Uveal Melanoma Patients: A 3-year Retrospective Study.

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2026

Multi-omics integrative analysis of stemness-associated pathological signatures to guide prognosis and therapeutic strategies in uveal melanoma.

International journal of surgery (London, England)
2026

Angiotensin II for the Treatment of Vasodilatory Shock during Percutaneous Hepatic Perfusion Cases: A Case Report.

A&amp;A practice
2025

ASPHD1 Is a tumor-suppressive and prognostic marker in glioma.

Frontiers in oncology
2026

Comprehensive Melanoma-Related Gene Analysis of Bilateral Diffuse Uveal Melanocytic Proliferation: A Case Report.

International journal of dermatology
2026

Tumor-intrinsic redox programming drives an SPP1-CD44 axis of immune suppression in uveal melanoma.

Redox biology
2025

Extracellular Matrix Stiffness Regulates Cancer Stemness in Uveal Melanoma via the PIEZO1-DOT1L Axis.

Investigative ophthalmology &amp; visual science
2025

Feasibility of Low-Pass Whole Genome Sequencing for Detecting Somatic Copy Number Alterations in Formalin-Fixed Uveal Melanoma Specimens.

Translational vision science &amp; technology
2026

Integrating multiple key molecules in uveal melanoma to uncover metastatic and immune microenvironment-related gene signatures.

International journal of ophthalmology
2025

Intraocular metastasis from an anal squamous cell carcinoma: a case report.

Journal of gastrointestinal oncology
2026

The NEAT1/miR-506-3p/STAT3 axis promotes uveal melanoma progression and represents a potential therapeutic target.

Cancer cell international
2026

Knockdown 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 communications
2026

Ferroptosis dysregulation, mitochondrial dysfunction, and iron metabolism alterations are correlated with aggressiveness in uveal melanoma.

Apoptosis : an international journal on programmed cell death
2025

Ephrin Receptors and Ephrin Ligands in Uveal Melanoma: A Big Data Analysis Using Web Resources.

International journal of molecular sciences
2025

Metastatic Uveal Melanoma Surveillance: A Delphi Panel Consensus.

Cancers
2025

Vitreoretinal Surgery for Intraocular Complications Following Radiotherapy Treatment of Uveal Melanoma.

Cancers
2025

Unraveling Resistance Mechanisms to Gαq Pathway Inhibition in Uveal Melanoma: Insights from Signaling-Activation Library Screening.

Cancers
2026

Research progress on glycolytic reprogramming in ophthalmic diseases.

PeerJ
2026

Early Peripapillary and Macular Microvascular Changes Following Ruthenium-106 Plaque Brachytherapy For Uveal Melanomas.

American journal of ophthalmology
2025

Outcome of Ruthenium-106 Brachytherapy for Uveal Melanoma and Retinal Vascular Tumors: A Retrospective Study.

Journal of current ophthalmology
2025

Comparative analysis of gyroscopic and robotic radiosurgery platforms for uveal melanoma treatment.

Medical dosimetry : official journal of the American Association of Medical Dosimetrists
2025

Secondary Glaucoma Resulting From Choroidal Melanoma in a Patient With Congenital Nevus of Ota.

Case reports in ophthalmological medicine
2025

Subgroup 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 oncology
2025

Automatic classification of uveal melanoma response patterns following ruthenium-106 plaque brachytherapy using ultrasound images and deep convolutional neural network.

Scientific reports
2026

Tumors With GNAQ Mutations: A Review With a Focus on Possible Shared Neural Crest Origins.

The American Journal of dermatopathology
2026

[Tisotumab Vedotin - Metastatic or recurrent cervical cancer as second-line therapy].

Bulletin du cancer
2026

Hard Truth About Surveillance for Uveal Melanoma.

Clinical &amp; experimental ophthalmology
2025

Intensive Surveillance and Aggressive Multimodal Treatment for Liver Metastases From Uveal Melanoma.

Annals of surgery open : perspectives of surgical history, education, and clinical approaches
2025

Multi-responsive nanocomposite hydrogel for synergistic photothermal-chemotherapy to prevent postoperative recurrence and metastasis of uveal melanoma.

Materials today. Bio
2026

Regulation of BAP1 activity by novel cancer-associated glutamate residues through ubiquitin binding and PARylation.

Biochemical and biophysical research communications
2025

Four Months of Exercise Intervention Improved Visuomotor, Functional and Cardiorespiratory Capacity in a Patient with Metastatic Uveal Melanoma.

Reports (MDPI)
2025

Endoresection in Choroidal Melanoma: Outcomes of Intentional Incomplete Tumor Removal.

Current oncology (Toronto, Ont.)
2026

Attention-Based Multimodal Deep Learning for Uveal Melanoma Classification Using Ultra-Widefield Fundus Images and Ocular Ultrasound.

Ophthalmology science
2025

Clinical outcomes of fractionated stereotactic radiotherapy for uveal melanoma - a Polish single-centre experience.

Contemporary oncology (Poznan, Poland)
2025

Clinical and radiomics parameter prognostication in metastatic uveal melanoma patients treated with hepatic arterial infusion chemotherapy.

The oncologist
2025

Charting the growth of programmed cell death studies in uveal melanoma: a bibliometric evidence.

Discover oncology
2025

Competing risk analysis of prognosis in patients with uveal melanoma.

Discover oncology
2026

Aurora Kinases in Ocular Malignancies: Functional Significance and Potential Implications.

Ocular oncology and pathology
2025

Clinical outcomes of pars plana vitrectomy with endoresection in uveal melanoma primarily treated with plaque radiotherapy or proton beam therapy.

European journal of ophthalmology
2025

Uveal Melanocytoma without GNAQ/GNA11 Mutations.

Ocular oncology and pathology
2025

Effect of Social Determinants of Health and Geography on Uveal Melanoma.

Clinical ophthalmology (Auckland, N.Z.)
2025

Erianin Abrogates Cancerous Vasculogenic Mimicry Through Targeting m5C Methylase NSUN2 in Uveal Melanoma.

Investigative ophthalmology &amp; visual science
2025

Toward Precision Medicine: Gene Therapy Applications in the Management of Uveal Melanoma.

Cancer reports (Hoboken, N.J.)
2026

YTHDF3-TRIM2-P53 axis promotes malignant progression in uveal melanoma (UVM).

Cellular signalling
2026

Exploring copper metabolism and cuproptosis, and their implications in ocular diseases.

European journal of pharmacology
2025

Early genetic evolution of driver mutations in uveal melanoma.

Nature communications
2025

Identification of targetable epigenetic vulnerabilities for uveal melanoma.

Cell death &amp; disease
2026

Circulating 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 Research
2025

Methylated CfDNA may distinguish between high- and intermediate-risk uveal melanoma: a pilot study.

Cancer cell international
2026

Sorafenib plus selective internal radiotherapy with 90Y resin microspheres for the treatment of uveal melanoma with liver metastasis: a phase I trial.

British journal of cancer
2026

Combination of YAP inhibition and photodynamic therapy induces dual DNA damage and activates STING pathway to enhance immunotherapy in uveal melanoma.

Redox biology
2026

Genetic Background Predicts Uveal Melanoma Patients' Outcomes.

Ophthalmology science
2025

Survival Outcome After Percutaneous Hepatic Perfusion with High-Dose Melphalan for Liver-Dominant Metastatic Uveal Melanoma: A 10-Year Single-Center Experience.

Cancers
2025

Linking Megalin, Cubilin, Caveolin-1, GIPC1 and Dab2IP Expression to Ocular Tumorigenesis: Profiles in Retinoblastoma, Choroidal Melanoma, and the Normal Human Eye.

Cancers
2026

Loss of EHMT2 enhances NK cell-driven anti-tumor immunity through TGF-β1 suppression.

EMBO molecular medicine
2025

Longitudinal ctDNA monitoring in patients with metastatic uveal melanoma undergoing isolated hepatic perfusion in combination with ipilimumab and nivolumab.

Immuno-oncology technology
2025

Sorafenib as first-line therapy for metastatic uveal melanoma: A multicenter, placebo-controlled randomized discontinuation study (STREAM).

iScience
2026

Subconjunctival seeding of ciliary body melanoma after trabeculectomy: A surgical pitfall.

Archivos de la Sociedad Espanola de Oftalmologia
2026

Montelukast as a novel therapeutic approach in metastatic uveal melanoma harboring a CYSLTR2 mutation: a translational case report.

ESMO open
2025

Exploring p53 isoforms: unraveling heterogeneous p53 tumor suppressor functionality in uveal melanoma.

Cell death discovery
2025

Pan-cancer landscape of UBD/FAT10 and experimental validation in esophageal carcinoma.

Frontiers in oncology
2026

Tebentafusp in Metastatic Uveal Melanoma: A Meta-analysis.

Targeted oncology
2025

A 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 ophthalmology
2025

Missegregation of Chromosome 3 and Generation of Monosomy 3 in the Proliferating Uveal Melanoma Cells Under Hyperglycemia.

Investigative ophthalmology &amp; visual science
2025

A pan-cancer analysis to predict the prognosis and immunological role of copper death-related gene DLAT.

Medicine
2025

Letter Re: "Molecular determinants of survival in metastatic uveal melanoma: The impact of SF3B1 mutations".

European journal of cancer (Oxford, England : 1990)
2025

Clinical utility of pembrolizumab in the management of orbital recurrence of uveal melanoma: case report.

American journal of ophthalmology case reports
2025

The Value of Detecting and Monitoring ctDNA in Uveal Melanoma: Results of a Pilot Study and a Systematic Review.

Case reports in ophthalmology
2025

A novel 9-gene classifier for predicting distant metastasis of soft-tissue sarcoma and multiple malignancies.

Cancer treatment and research communications
2025

Improved Immunohistochemistry of Mouse Eye Sections Using Davidson's Fixative and Melanin Bleaching.

Bio-protocol
2025

Integrated Pan-Cancer Analysis and Experimental Verification of the Roles of Retinoid-Binding Proteins in Breast Cancer.

Cancers
2025

Outcomes Following Treatment with Notched Proton Beams for Peripapillary Choroidal Melanomas.

Cancers
2025

Implementing ocular treatment with pencil beam scanning: the FHCC experience.

Radiation oncology (London, England)
2025

Insights into shape of uveal melanoma: a comprehensive evaluation of clinical features, pathological features, and prognosis analysis.

Frontiers in medicine
2025

Restoration of BAP1 activity via base editing suppresses anchorage-independent survival in kidney cancer.

Cancer cell international
2026

Phenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).

Ophthalmic genetics
2025

Integrated bioinformatics and deep learning (MLP) approach reveals a novel five miRNA prognostic signature in uveal melanoma.

Scientific reports
2025

Can Immune Checkpoint Modulation Redefine Ocular Immunotherapy? Emerging Mechanisms, Challenges, and Translational Opportunities-A Comprehensive Review.

Investigative ophthalmology &amp; visual science
2026

Dermatological Toxicities of Tebentafusp, a New Bispecific Drug: Case Series and Literature Review.

The Australasian journal of dermatology
2025

Bispecific immunotherapy based on antibodies, T-cell receptors, and aptamers: mechanisms of action, adverse effects, and future perspectives.

Frontiers in immunology
2025

Transscleral Photodynamic Therapy with a Chlorin e6 Photosensitizer in a Rabbit Experimental Model of an Intraocular Mass Lesion.

Journal of lasers in medical sciences
2025

Characterization of Early Metastatic Subpopulations in Uveal Melanoma: Single-Cell Insights Into SPP1+ Cells and Their Interactions With Macrophages.

Investigative ophthalmology &amp; visual science
2025

Real-World Outcomes of Ipilimumab-Nivolumab vs. Anti-PD-1 Monotherapy in Metastatic Uveal Melanoma: A Single-Center Retrospective Study.

Cancers
2025

ZEB1 and Uveal Melanoma Invasiveness.

International journal of molecular sciences
2026

Characterization of long-term survivors with liver metastases from uveal melanoma diagnosed between 2005 and 2021.

International journal of cancer
2025

Bispecific 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 therapy
2025

Comprehensive molecular analysis of uveal melanoma identifies targets in tumor-intrinsic and tumor-extrinsic pathways.

iScience
2025

Aqueous humor biomarkers in ocular oncology: Insights and advances.

Cell reports. Medicine
2026

An interactive and explainable AI approach to improve human-machine teaming in cancer subtyping from digital cytopathology.

Medical image analysis
2026

[How do doctors communicate results of genomic testing and its prognostic impact on uveal melanoma patients? Results of a qualitative study].

Bulletin du cancer
2025

Prognostic evaluation and experimental validation of cuproptosis-related hub genes identified through weighted gene co-expression network analysis in uveal melanoma.

Cancer cell international
2025

Evaluating 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.

Cureus
2026

Melanoma 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 &amp; cancer
2025

Machine 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))
2026

Temsirolimus targets chemoresistant uveal melanoma via mammalian target of rapamycin inhibition and enhances chemotherapy.

Anti-cancer drugs
2025

Evaluating the efficacy and safety of tebentafusp in the treatment of metastatic uveal melanoma: a 2025 update systematic review and meta-analysis.

Frontiers in oncology
2025

S-adenosylmethionine enhances anti-PD-1 efficacy in uveal melanoma by targeting EZH2.

Discover oncology
2025

Functions and clinical implications of the liver microenvironment in hepatic uveal melanoma metastases.

Cancer metastasis reviews
2025

Checkpoint Blockade Efficacy in Uveal Melanoma Is Linked to Tumor Immunity, CD28, and CCL8.

International journal of molecular sciences
2025

Dissecting Melanoma Ecosystem Heterogeneity from Molecular Characteristics to Genetic Variation at Single-Cell Resolution.

International journal of molecular sciences
2025

The Discovery of α-Adrenoceptor Antagonists as a Potential New Treatment Option for Uveal Melanoma.

Biomolecules
2025

Inhibition of the RAC/PAK Signaling Axis Enhances the Potency of MAPK Cascade Inhibitors Against Uveal Melanoma.

Biomolecules
2025

Transcriptomic and Clinical Profiling Reveals LGALS3 as a Prognostic Oncogene in Pancreatic Cancer.

Genes
2025

Clinical Applications of Artificial Intelligence in Uveal Melanoma.

Anticancer research
2025

Integrative analysis of single-cell and transcriptome RNA sequencing to establish a NAT10-related signature for prognostic prediction of uveal melanoma.

Discover oncology
2025

Survival outcomes and prognosis predictors of uveal melanoma from Indian population.

Indian journal of ophthalmology
Ver todos os 4.230 no EuropePMC

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Doenças relacionadas

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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.

  1. Percutaneous hepatic perfusion combined with ipilimumab and nivolumab for metastatic uveal melanoma (CHOPIN): a single-centre, open-label, randomised, phase 2 trial.
    The Lancet. Oncology· 2026· PMID 41785896mais citado
  2. Exosome-Based Approaches in Regenerative Medicine and Targeted Therapy for Eye Malignancies: A Comprehensive Review.
    Eye and brain· 2026· PMID 41737198mais citado
  3. RAB1A is a novel vulnerability in uveal melanoma revealed by dual inhibition of MNK1/2 and mTOR.
    Cell death and differentiation· 2026· PMID 41708776mais citado
  4. Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
    European journal of human genetics : EJHG· 2026· PMID 41688774mais citado
  5. MTG2 as a Causal and Druggable Target in Uveal Melanoma via Mitochondrial DNA Dynamics: Evidence From Functional Validation and DMSA Identification.
    Investigative ophthalmology &amp; visual science· 2026· PMID 41677388mais citado
  6. A CRISPR-Cas13d cancer therapeutic enables selective elimination of uveal melanoma.
    Mol Ther Oncol· 2026· PMID 41994560recente
  7. Hepatic metastasis surveillance in uveal melanoma: a retrospective cohort study from a UK tertiary centre (2006-2022).
    Br J Cancer· 2026· PMID 41992059recente
  8. Trends in incidence and survival for uveal melanoma in Norway, 1993-2021.
    Br J Ophthalmol· 2026· PMID 41991253recente
  9. Comparative Proteomic Profiling of Microdissected Spindle and Epithelioid Uveal Melanoma Subtypes.
    Invest Ophthalmol Vis Sci· 2026· PMID 41983767recente
  10. CDK6/4 inactivates BAP1 deubiquitinase destabilizing VHL to promote metastatic colonization in liver.
    Mol Cancer· 2026· PMID 41981449recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:39044(Orphanet)
  2. OMIM OMIM:155720(OMIM)
  3. MONDO:0006486(MONDO)
  4. GARD:8621(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Melanoma uveal
Compêndio · Raras BR

Melanoma uveal

ORPHA:39044 · MONDO:0006486
Prevalência
1-9 / 100 000
Herança
Not applicable
CID-10
C69.3 · Neoplasia maligna da coróide
CID-11
Ensaios
35 ativos
Início
Adult
Prevalência
0.0 (Europe)
MedGen
UMLS
C0220633
Repurposing
9 candidatos
binimetinibMEK inhibitor
cobimetinibRAF inhibitor
dabrafenibDNA alkylating agent
+6 outros
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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