MCID: MLN069
MIFTS: 62

Melanoma, Uveal

Categories: Cancer diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Melanoma, Uveal

MalaCards integrated aliases for Melanoma, Uveal:

Name: Melanoma, Uveal 57
Uveal Melanoma 11 58 28 53 5 43 14 16 71 75
Choroidal Melanoma 58 5 16
Malignant Melanoma of Choroid 71
Malignant Melanoma of Iris 71
Melanoma of Uvea 11
Iris Melanoma 58

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Uveal Melanoma: 1-9/1000000 (Europe) 1-9/100000 (Europe, Europe) 58

Age Of Onset:

Uveal Melanoma: Adult 58

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:6039
OMIM® 57 155720
MeSH 43 C536494
NCIt 49 C7712
MESH via Orphanet 44 C536494
ICD10 via Orphanet 32 C69.3
UMLS via Orphanet 72 C0220633 C0346373 C0346388
Orphanet 58 ORPHA39044
MedGen 40 C0220633
UMLS 71 C0220633 C0346373 C0346388

Summaries for Melanoma, Uveal

Orphanet: 58 Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.

MalaCards based summary: Melanoma, Uveal, also known as uveal melanoma, is related to ocular melanoma and melanoma. An important gene associated with Melanoma, Uveal is BAP1 (BRCA1 Associated Protein 1), and among its related pathways/superpathways are ADORA2B mediated anti-inflammatory cytokines production and Development Angiotensin activation of ERK. The drugs Triamcinolone and Hormones have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain, and related phenotypes are visual loss and choroidal melanoma

Disease Ontology: 11 A uveal cancer that has material basis in uvea pigment cells.

Wikipedia: 75 Uveal melanoma is a type of eye cancer in the uvea of the eye. It is traditionally classed as... more...

More information from OMIM: 155720

Related Diseases for Melanoma, Uveal

Diseases in the Melanoma, Uveal family:

Melanoma, Uveal 1 Melanoma, Uveal 2
Posterior Uveal Melanoma

Diseases related to Melanoma, Uveal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 526)
# Related Disease Score Top Affiliating Genes
1 ocular melanoma 33.8 TYR SF3B1 PLCB4 NRAS MLANA MITF
2 melanoma 33.6 TYR SF3B1 PAUPAR NRAS MLANA MITF
3 posterior uveal melanoma 33.3 PLCB4 GNAQ GNA11 BAP1
4 mixed cell uveal melanoma 33.2 GNAQ GNA11 BAP1
5 uveal disease 32.7 TYR SF3B1 PLCB4 NRAS MITF MIRLET7B
6 nevus of ota 32.6 BRAF BAP1
7 skin melanoma 32.6 TYR SF3B1 NRAS MLANA MITF GNAQ
8 ocular cancer 32.0 MLANA MIR143 GNAQ GNA11
9 malignant choroid melanoma 31.6 MLANA GNAQ GNA11
10 melanoma, cutaneous malignant 1 31.4 TYR NRAS MLANA MITF GNAQ GNA11
11 skin carcinoma 31.4 TYR NRAS MLANA MITF
12 malignant conjunctival melanoma 31.3 PLCB4 NRAS MLANA GNAQ GNA11 CYSLTR2
13 malignant spindle cell melanoma 31.3 TYR NRAS MLANA MITF GNAQ GNA11
14 choroid cancer 31.2 MLANA GNAQ GNA11 BAP1
15 eye disease 31.2 TYR NRAS MITF MIRLET7B MIR143 GNAQ
16 vitiligo-associated multiple autoimmune disease susceptibility 1 31.1 TYR MLANA MITF
17 epithelioid cell melanoma 31.1 TYR PLCB4 MLANA MITF GNAQ GNA11
18 mucosal melanoma 31.1 TYR NRAS MLANA MITF GNAQ GNA11
19 malignant ciliary body melanoma 30.9 TYR GNA11
20 renal cell carcinoma, nonpapillary 30.8 SF3B1 NRAS MITF MIR143 MALAT1 BRAF
21 weber syndrome 30.7 GNAQ GNA11
22 conjunctival cancer 30.7 PLCB4 NRAS MLANA GNAQ GNA11 CYSLTR2
23 amelanotic melanoma 30.7 TYR NRAS MLANA MITF
24 nodular malignant melanoma 30.7 TYR NRAS MLANA MITF GNAQ GNA11
25 melanoma in congenital melanocytic nevus 30.6 TYR NRAS MLANA MITF GNAQ BRAF
26 nervous system disease 30.6 TYR MITF MIRLET7B MIR652 MIR193B MIR143
27 skin benign neoplasm 30.6 TYR MLANA BRAF
28 melanoma, cutaneous malignant 8 30.6 TYR MITF
29 neurilemmoma 30.6 TYR MLANA MITF
30 rapidly involuting congenital hemangioma 30.5 GNAQ GNA11
31 myeloma, multiple 30.5 NRAS MIRLET7B MALAT1 BRAF BAP1
32 neurofibroma 30.4 TYR MLANA MITF
33 non-langerhans-cell histiocytosis 30.3 NRAS BRAF
34 necrotic uveal melanoma 11.6
35 melanoma, uveal 1 11.5
36 melanoma, uveal 2 11.5
37 bap1 tumor predisposition syndrome 11.4
38 tumor predisposition syndrome 1 11.3
39 uveal epithelioid cell melanoma 11.3
40 tumor predisposition syndrome 2 11.2
41 retinal detachment 10.8
42 neovascular glaucoma 10.8
43 factor vii deficiency 10.8
44 central nervous system melanocytic neoplasm 10.6 TYR PLCB4 NRAS MLANA GNAQ GNA11
45 retinoblastoma 10.6
46 malignant leptomeningeal tumor 10.6 SF3B1 NRAS MLANA MITF GNAQ GNA11
47 meningeal melanoma 10.6 SF3B1 NRAS MLANA MITF GNAQ GNA11
48 acral lentiginous melanoma 10.6 TYR NRAS MLANA MITF GNAQ GNA11
49 meningeal melanomatosis 10.6 TYR NRAS MLANA GNAQ GNA11 CYSLTR2
50 spinal cord melanoma 10.6 TYR NRAS MLANA MITF GNAQ GNA11

Graphical network of the top 20 diseases related to Melanoma, Uveal:



Diseases related to Melanoma, Uveal

Symptoms & Phenotypes for Melanoma, Uveal

Human phenotypes related to Melanoma, Uveal:

58 30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual loss 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000572
2 choroidal melanoma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012054
3 retinal detachment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000541
4 iris melanoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0011524
5 ciliary body melanoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0012055
6 vitreous hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007902
7 abnormality of refraction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000539
8 mydriasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011499
9 metamorphopsia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012508
10 ocular hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007906
11 inferior lens subluxation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008494
12 zonular cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010920
13 photopsia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030786
14 abnormal visual accommodation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030800
15 inflammatory abnormality of the eye 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100533
16 ocular pain 58 30 Very rare (1%) Very rare (<4-1%)
HP:0200026
17 abnormal fundus morphology 58 Very frequent (99-80%)
18 uveal melanoma 30 HP:0007716

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Eyes:
uveal melanoma

Misc:
most common primary intraocular malignancy
frequent loss of chromosome 3 material and additions of chromosome 8

Clinical features from OMIM®:

155720 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Melanoma, Uveal:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 10.02 BRAF GNA11 GNAQ MALAT1 MIR193B MITF
2 pigmentation MP:0001186 9.95 BRAF GNA11 GNAQ MITF MLANA NRAS
3 no phenotypic analysis MP:0003012 9.87 BAP1 HOXA11-AS MALAT1 MITF MLANA NRAS
4 limbs/digits/tail MP:0005371 9.8 BRAF CYSLTR2 GNA11 GNAQ MITF NRAS
5 hearing/vestibular/ear MP:0005377 9.7 BRAF GNA11 GNAQ MITF NUMB PLCB4
6 skeleton MP:0005390 9.61 BRAF CYSLTR2 GNA11 GNAQ MITF NRAS
7 integument MP:0010771 9.32 BAP1 BRAF CYSLTR2 GNA11 GNAQ MIR193B

Drugs & Therapeutics for Melanoma, Uveal

Drugs for Melanoma, Uveal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 140)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2 Hormones Phase 4
3 Hormone Antagonists Phase 4
4 glucocorticoids Phase 4
5 Anti-Inflammatory Agents Phase 4
6
Triamcinolone hexacetonide Phase 4
7
Triamcinolone diacetate Phase 4
8
Triamcinolone Acetonide Phase 4 6436
9
Sargramostim Approved, Investigational Phase 3 123774-72-1
10
Ranibizumab Approved Phase 3 347396-82-1
11
Aflibercept Approved Phase 3 862111-32-8 124490314
12
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
13
Molgramostim Investigational Phase 3 99283-10-0
14
Fotemustine Investigational Phase 3 92118-27-9 104799
15 Monatide (IMS 3015) Phase 3
16 Freund's Adjuvant Phase 3
17 Antioxidants Phase 3
18 Protective Agents Phase 3
19 Vaccines Phase 3
20 Mitogens Phase 3
21 Angiogenesis Inhibitors Phase 3
22 Endothelial Growth Factors Phase 3
23 Liver Extracts Phase 3
24
Tramadol Approved, Investigational Phase 1, Phase 2 27203-92-5 33741 5523
25
Ibuprofen Approved Phase 1, Phase 2 15687-27-1 3672
26
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
27
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
28
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
29
Tremelimumab Approved, Investigational Phase 2 745013-59-6
30
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239
31
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
32
Pasireotide Approved Phase 2 396091-73-9 56841596 9941444
33
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
34
Carmustine Approved, Investigational Phase 2 154-93-8 2578
35
Ethiodized oil Approved, Investigational Phase 2 8008-53-5
36
Lenvatinib Approved, Investigational Phase 2 417716-92-8 9823820
37
Belinostat Approved, Investigational Phase 2 414864-00-9, 866323-14-0 53437714 6918638
38
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
39
Dacarbazine Approved, Investigational Phase 2 4342-03-4 2942 5351166
40
Entrectinib Approved, Investigational Phase 1, Phase 2 1108743-60-7 25141092
41
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
42
Sunitinib Approved, Investigational Phase 2 557795-19-4 5329102
43
Crizotinib Approved, Investigational Phase 2 877399-52-5 11626560
44
Niraparib Approved, Investigational Phase 2 1038915-60-4 24958200
45
Olaparib Approved Phase 2 763113-22-0 23725625
46
Pembrolizumab Approved Phase 2 1374853-91-4 254741536
47
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
48
Aldesleukin Approved Phase 2 110942-02-4
49
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
50
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3 3680

Interventional clinical trials:

(show top 50) (show all 167)
# Name Status NCT ID Phase Drugs
1 A Randomized Control Trial of Intravitreal Ranibizumab (Lucentis) for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy for Choroidal Melanoma Unknown status NCT00540930 Phase 4 Ranibizumab
2 Transpupillary Thermotherapy (TTT) Alone Versus the Combined Therapy Consisting of TTT and Intravitreal Injection of Triamcinolone to Decrease Exudation in Choroidal Melanoma After Proton Beam Therapy Unknown status NCT02379000 Phase 4 Triamcinolone Acetonide
3 Treatment Of Radiation Retinopathy Trial Subtitle: Treatment of Radiation Retinopathy; Influence of Lucentis® and Kenalog® on Radiation Retinopathy After Irradiation of Choroidal Melanoma. Unknown status NCT00811200 Phase 2, Phase 3 ranibizumab;triamcinolone acetonide
4 A Randomized, Placebo-Controlled Phase III Trial of Yeast Derived GM-CSF Versus Peptide Vaccination Versus GM-CSF Plus Peptide Vaccination Versus Placebo in Patients With "No Evidence of Disease" After Complete Surgical Resection of "Locally Advanced" and/or Stage IV Melanoma Completed NCT01989572 Phase 3
5 A Randomised, Double-Blind Study to Assess the Efficacy of Selumetinib (AZD6244: ARRY-142886) (Hyd-Sulfate) in Combination With Dacarbazine Compared With Placebo in Combination With Dacarbazine as First Systemic Therapy in Patients With Metastatic Uveal Melanoma (SUMIT) Completed NCT01974752 Phase 3 75mg selumetinib;placebo;Dacarbazine
6 Randomized Phase III Study Comparing an Adjuvant Chemotherapy With Fotemustin to Intensive Surveillance in Patients With High Risk Uveal Melanoma Completed NCT02843386 Phase 3 Adjuvant chemotherapy by Fotemustin
7 Ranibizumab as Adjuvant Therapy for the Treatment of Choroidal Melanoma Completed NCT00680225 Phase 3 Ranibizumab injection and TTT - ICG based
8 Adjuvant Melatonin for Uveal Melanoma: A Randomized Open Phase III Study Recruiting NCT05502900 Phase 3 Melatonin
9 A NON-COMMERCIAL, MULTICENTER, RANDOMIZED, TWO-ARMED, OPEN-LABEL PHASE III STUDY TO EVALUATE THE ADJUVANT VACCINATION WITH TUMOR RNA-LOADED AUTOLOGOUS DENDRITIC CELLS VERSUS OBSERVATION OF PATIENTS WITH RESECTED MONOSOMY 3 UVEAL MELANOMA Active, not recruiting NCT01983748 Phase 3
10 The Scandinavian Randomized Controlled Trial of Isolated Hepatic Perfusion for Uveal Melanoma Liver Metastases Active, not recruiting NCT01785316 Phase 3
11 Prevention of Neovascular Glaucoma by Intravitreal Injections of Anti-Vascular Endothelial Growth Factor in Patients Treated With Proton Therapy for a Large Choroidal Melanoma Not yet recruiting NCT03172299 Phase 3 Aflibercept Injection;False injection
12 Intravenous Versus Intra-Arterial Fotemustine Chemotherapy in Patients With Liver Metastases From Uveal Melanoma: A Randomized Phase III Study of the EORTC Melanoma Group Terminated NCT00110123 Phase 3 fotemustine;isolated perfusion
13 Phase II Study of Nivolumab in Combination With Ipilimumab for Uveal Melanoma Unknown status NCT01585194 Phase 2
14 A Phase 1/2 Dose-Finding Study to Evaluate the Safety, Feasibility, and Activity of BPX-701, a Controllable PRAME T-Cell Receptor Therapy, in HLA-A2+ Subjects With AML, Previously Treated MDS, or Metastatic Uveal Melanoma Unknown status NCT02743611 Phase 1, Phase 2 Rimiducid
15 Phase II Single-Center Study of Bevacizumab in Combination With Temozolomide in Patients With First-Line Metastatic Uveal Melanoma Unknown status NCT01217398 Phase 2 temozolomide
16 A Randomized Discontinuation, Blinded, Placebo-Controlled Phase II Study of Sorafenib in Patients With Chemonaive Metastatic Uveal Melanoma Unknown status NCT01377025 Phase 2 Placebo;Sorafenib
17 An Open-Label, Single Institution, Phase II Study Using Radioactive Yttrium90 Microsphere (SIR-Sphere®) in Uveal Melanoma Patients With Hepatic Metastasis Unknown status NCT01473004 Phase 2
18 Post-Operative Pain Relief Following Insertion of Radioactive Plaque for Choroidal Melanoma: Randomised Control Trial of Tramadol Vs Ibuprofen: A Pilot Study Unknown status NCT00111046 Phase 1, Phase 2 Ibuprofen;Tramadol
19 Randomized Phase II Study Comparing the MET Inhibitor Cabozantinib to Temozolomide/Dacarbazine in Ocular Melanoma Completed NCT01835145 Phase 2 Cabozantinib S-malate;Dacarbazine;Temozolomide
20 A Phase II Pilot Trial of an Indoleamine 2,3, Dioxygenase-1 (IDO1) Inhibitor (INCB024360) Plus a Multipeptide Melanoma Vaccine (MELITAC 12.1) in Patients With Advanced Melanoma Completed NCT01961115 Phase 2 Epacadostat
21 Randomized Phase II Trial of Temozolomide Versus Hyd-Sulfate AZD6244 [NSC 748727] in Patients With Metastatic Uveal Melanoma Completed NCT01143402 Phase 2 Dacarbazine;Selumetinib;Temozolomide
22 A Randomized Two-Arm Phase II Study of Trametinib Alone and in Combination With GSK2141795 in Patients With Advanced Uveal Melanoma Completed NCT01979523 Phase 2 Trametinib;Uprosertib
23 A Phase 2 Study of CDX-011 (Glembatumumab Vedotin) for Metastatic Uveal Melanoma Completed NCT02363283 Phase 2 Glembatumumab Vedotin
24 Phase II Multicenter, Non Randomized, Open Label Trial of Nivolumab in Combination With Ipilimumab in Subjects With Previously Untreated Metastatic Uveal Melanoma Completed NCT02626962 Phase 2 ipilimumab;Nivolumab
25 A Phase 2 Study Of Weekly Infusion Nab-paclitaxel (Paclitaxel Protein-bound Particles for Injectable Suspension) In Patients With Unresectable And Metastatic Uveal Melanoma Completed NCT00738361 Phase 2 nab-paclitaxel
26 A Phase 2 Study of Marqibo in Patients With Metastatic Uveal Melanoma Completed NCT00506142 Phase 2 Marqibo® (vincristine sulfate liposomes injection)
27 Open Label Phase II Study of AntiCTLA4 in Patients With Unresectable or Metastatic Uveal Melanoma Completed NCT01034787 Phase 2 CP-675,206
28 Phase II Trial of BAY 43-9006 (Sorafenib; NSC-724772) in Combination With Carboplatin and Paclitaxel in Patients With Metastatic Uveal Melanoma Completed NCT00329641 Phase 2 carboplatin;paclitaxel;sorafenib tosylate
29 Adjuvant Therapy for Patients With Primary Uveal Melanoma With Genetic Imbalance Completed NCT01100528 Phase 2 dacarbazine
30 Study Multicentre Evaluating the Effectiveness and Toxicity Sorafenib (Nexavar®) in Adult Patients With Uveal Melanoma and Metastatic Dissemination Completed NCT02517736 Phase 2 Sorafenib at a dose of 800 mg / day
31 A Phase II Study of RAD001 (Everolimus) and Pasireotide (SOM230) LAR in Patients With Advanced Uveal Melanoma Completed NCT01252251 Phase 2 RAD001 (Everolimus) and Pasireotide (SOM230) LAR
32 A Randomised Phase II Study of Sunitinib Versus Dacarbazine in the Treatment of Patients With Metastatic Uveal Melanoma Completed NCT01551459 Phase 2 Dacarbazine;Sunitinib
33 Phase II Study of IMC-A12 in Metastatic Uveal Melanoma Completed NCT01413191 Phase 2
34 Immuno-embolization of Hepatic Artery With Granulocyte-macrophage Colony Stimulating Factor (GM-CSF) Completed NCT00661622 Phase 2 GM-CSF
35 A Phase 1B/2 Open-Label, Ascending Single and Repeat Dose Clinical Trial Designed to Evaluate the Safety and Efficacy of Light-activated AU-011 for the Treatment of Subjects With Small Primary Choroidal Melanoma Completed NCT03052127 Phase 1, Phase 2 Light-activated AU-011
36 A Phase II Study of Vorinostat in Patients With Advanced Melanoma Completed NCT00121225 Phase 2 vorinostat
37 Randomized Phase II Study of AB (Nab-Paclitaxel [Abraxane?], Bevacizumab) Versus Ipilimumab for Therapy of Unresectable Stage IV Metastatic Malignant Melanoma Completed NCT02158520 Phase 2 Nab-paclitaxel
38 Phase 2 Study to Evaluate the Efficacy of High Dose Ranibizumab as Adjuvant in the Treatment of Choroidal Melanoma Completed NCT01251978 Phase 2 Ranibizumab 2 mg;0.5 mg Ranibizumab
39 Phase II Open-Label Study of Weekly Taxoprexin (DHA-paclitaxel) Injection as First Line Treatment of Patients With Metastatic Non-choroidal Melanoma Completed NCT00249262 Phase 2 Taxoprexin
40 A Phase 2 Study Evaluating the Efficacy of VEGF Trap in Patients With Recurrent Inoperable Stage III or Stage IV Melanoma Completed NCT00450255 Phase 2
41 A Randomized Phase II Continuation Booster Trial After A Vaccine Combining Tyrosinase/GP100/Mart-1 Peptides Emulsified With Montanide ISA 51 and ISA 51 VG With Or Without GM-CSF For Patients With Resected Stages IIB/C, III And IV Melanoma Completed NCT00089063 Phase 2 Montanide ISA 51 VG
42 A Phase II Study of AZD2171 in Previously Untreated Patients With Metastatic or Recurrent Malignant Melanoma Completed NCT00243061 Phase 2 cediranib maleate
43 A Phase II Trial of PS-341 in Combination With Paclitaxel and Carboplatin for the Treatment of Metastatic Melanoma Completed NCT00288041 Phase 2 carboplatin;paclitaxel;bortezomib
44 A PHASE II TRIAL OF A VACCINE COMBINING MULTIPLE CLASS I PEPTIDES WITH MONTANIDE ISA 51 OR ISA 51 VG AND CpG ADJUVANT 7909 FOR PATIENTS WITH RESECTED STAGES IIC/III AND IV MELANOMA Completed NCT00085189 Phase 2 Montanide ISA 51 VG;agatolimod sodium
45 Phase II, Open-Label Study of Preliminary Efficacy of Sitravatinib in Combination With Tislelizumab in Patients With Metastatic Uveal Melanoma With Liver Metastases. Recruiting NCT05542342 Phase 2 Tislelizumab;Sitravatinib Malate
46 Chemoembolization of Uveal Melanoma Hepatic Metastases Using 300mg of BCNU Dissolved in Lipiodol® Followed by Gelfoam® Embolization Recruiting NCT04728633 Phase 2 Carmustine;Ethiodized Oil
47 A Phase II Trial of Defactinib (VS-6063) Combined With VS-6766 (CH5126766) in Patients With Metastatic Uveal Melanoma Recruiting NCT04720417 Phase 2 Defactinib Hydrochloride;Raf/MEK Inhibitor VS-6766
48 Phase1b/2 Study Combining Hepatic Percutaneous Perfusion With Ipilimumab Plus Nivolumab in Advanced Uveal Melanoma Recruiting NCT04283890 Phase 1, Phase 2 Ipilimumab and nivolumab;Melphalan chemosaturation via percutaneous hepatic perfusion
49 A Phase II Trial of Olaparib in Combination With Pembrolizumab for Advanced Uveal Melanoma Recruiting NCT05524935 Phase 2 Pembrolizumab;Olaparib
50 A Phase 2 Study of Nivolumab + BMS-986016 (Relatlimab) in Patients With Metastatic Uveal Melanoma Recruiting NCT04552223 Phase 2 Nivolumab;Relatlimab

Search NIH Clinical Center for Melanoma, Uveal

Cochrane evidence based reviews: uveal melanoma

Genetic Tests for Melanoma, Uveal

Genetic tests related to Melanoma, Uveal:

# Genetic test Affiliating Genes
1 Uveal Melanoma 28

Anatomical Context for Melanoma, Uveal

Organs/tissues related to Melanoma, Uveal:

MalaCards : Eye, Liver, Brain, Endothelial, T Cells, Lung, Breast

Publications for Melanoma, Uveal

Articles related to Melanoma, Uveal:

(show top 50) (show all 6628)
# Title Authors PMID Year
1
Genetic study of familial uveal melanoma: association of uveal and cutaneous melanoma with cutaneous and ocular nevi. 53 62 57
17207529 2007
2
Melanocortin 1 receptor is expressed by uveal malignant melanoma and can be considered a new target for diagnosis and immunotherapy. 53 62 57
17325166 2007
3
Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma. 53 62 57
12556369 2003
4
Insulin-like growth factor-1 receptor in uveal melanoma: a predictor for metastatic disease and a potential therapeutic target. 53 62 57
11773005 2002
5
Angiostatin produced by certain primary uveal melanoma cell lines impedes the development of liver metastases. 53 62 57
11735791 2001
6
Combined PKC and MEK inhibition in uveal melanoma with GNAQ and GNA11 mutations. 62 5
24141786 2014
7
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. 62 57
23793026 2013
8
Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. 62 57
23313955 2013
9
What hope for the future? GNAQ and uveal melanoma. 62 57
21378004 2011
10
Therapeutic implications of the emerging molecular biology of uveal melanoma. 62 5
21444680 2011
11
Serum vascular endothelial growth factor (VEGF) levels correlate with number and location of micrometastases in a murine model of uveal melanoma. 62 57
20819828 2011
12
Frequent mutation of BAP1 in metastasizing uveal melanomas. 62 57
21051595 2010
13
Mutations in GNA11 in uveal melanoma. 62 57
21083380 2010
14
Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. 62 57
19078957 2009
15
Pyrophosphorolysis detects B-RAF mutations in primary uveal melanoma. 62 57
18172070 2008
16
Osteopontin as a serologic marker for metastatic uveal melanoma: results of a pilot study. 62 57
17386288 2007
17
The Collaborative Ocular Melanoma Study (COMS) randomized trial of pre-enucleation radiation of large choroidal melanoma: IV. Ten-year mortality findings and prognostic factors. COMS report number 24. 62 57
15629284 2004
18
Geographic disparities in diagnostic screening for metastatic uveal melanoma. 62 57
15582082 2004
19
Noninvasive in vivo detection of prognostic indicators for high-risk uveal melanoma: ultrasound parameter imaging. 62 57
15019336 2004
20
Liver function tests in metastatic uveal melanoma. 62 57
14962411 2004
21
Histopathology of eyes enucleated after endoresection of choroidal melanoma. 62 57
14711728 2004
22
Microcirculation and tumor-infiltrating macrophages in choroidal and ciliary body melanoma and corresponding metastases. 62 57
14691146 2004
23
Depsipeptide (FR901228) inhibits proliferation and induces apoptosis in primary and metastatic human uveal melanoma cell lines. 62 57
12766035 2003
24
Nucleolar diameter and microvascular factors as independent predictors of mortality from malignant melanoma of the choroid and ciliary body. 62 57
12766034 2003
25
Incidence of uveal melanoma in the United States: 1973-1997. 62 57
12750097 2003
26
Consecutive choroidal melanoma in the same eye of a patient. 62 57
12719093 2003
27
EMAP-II expression is associated with macrophage accumulation in primary uveal melanoma. 62 57
12714608 2003
28
Clinicopathologic reports, case reports, and small case series: enucleation following transpupillary thermotherapy of choroidal melanoma: clinicopathologic correlations. 62 57
12617712 2003
29
Treatment of experimental choroidal melanoma with an Nd:yttrium-lanthanum-fluoride laser at 1047 nm. 62 57
12617706 2003
30
Tumor basal area and metastatic death after proton beam irradiation for choroidal melanoma. 62 57
12523887 2003
31
Combined plaque radiotherapy and transpupillary thermotherapy for choroidal melanoma: tumor control and treatment complications in 270 consecutive patients. 62 57
12096964 2002
32
Primary transpupillary thermotherapy for small choroidal melanoma in 256 consecutive cases: outcomes and limitations. 62 57
11825800 2002
33
Calcification in choroidal melanoma after transpupillary thermotherapy. 62 57
11730670 2001
34
Efficacy of (123)N-isopropyl-p-[(123)I]-iodoamphetamine single photon emission computed tomography for the diagnosis of uveal malignant melanoma. 62 57
11730669 2001
35
Uveal melanoma: no expression of HLA-G. 62 57
11726606 2001
36
Choroidal melanoma metastatic to the contralateral choroid. 62 57
11730671 2001
37
Absence of type I estrogen receptors in choroidal melanoma: analysis of Collaborative Ocular Melanoma Study (COMS) eyes. 62 57
11384577 2001
38
Assessment of metastatic disease status at death in 435 patients with large choroidal melanoma in the Collaborative Ocular Melanoma Study (COMS): COMS report no. 15. 62 57
11346394 2001
39
Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma. 62 57
11309305 2001
40
Concurrent choroidal melanoma in son and father. 62 57
11078855 2000
41
Neoadjuvant interferon alfa-2b treatment in a murine model for metastatic ocular melanoma: a preliminary study. 62 57
10922203 2000
42
Metastatic melanoma death rates by anatomic site after proton beam irradiation for uveal melanoma. 62 57
10922199 2000
43
Occurrence of retinoblastoma and uveal melanoma in the same patient. 62 57
10872940 2000
44
Familial uveal melanoma. Clinical observations on 56 patients. 62 57
8602775 1996
45
Two subclones in a case of uveal melanoma. Relevance of monosomy 3 and multiplication of chromosome 8q. 62 57
7954325 1994
46
Familial uveal melanoma. 62 57
8154536 1994
47
The prognostic value of tumor blood vessel morphology in primary uveal melanoma. 62 57
8371929 1993
48
Non-random abnormalities of chromosomes 3, 6, and 8 associated with posterior uveal melanoma. 62 57
1384670 1992
49
Loss of chromosome 3 alleles and multiplication of chromosome 8 alleles in uveal melanoma. 62 57
1382562 1992
50
Chromosomal aberrations defining uveal melanoma of poor prognosis. 62 57
1347396 1992

Variations for Melanoma, Uveal

ClinVar genetic disease variations for Melanoma, Uveal:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BAP1 NM_004656.4(BAP1):c.932-151G>A SNV Pathogenic
1698872 GRCh37: 3:52439461-52439461
GRCh38: 3:52405445-52405445
2 PLCB4 NM_001377142.1(PLCB4):c.1924G>T (p.Asp642Tyr) SNV Pathogenic
633597 rs1568763104 GRCh37: 20:9389753-9389753
GRCh38: 20:9409106-9409106
3 BAP1 NM_004656.4(BAP1):c.932-8_960del DEL Pathogenic
633598 rs1559588632 GRCh37: 3:52439282-52439318
GRCh38: 3:52405266-52405302
4 SF3B1 NM_012433.4(SF3B1):c.1874G>A (p.Arg625His) SNV Likely Pathogenic
376534 rs1057519961 GRCh37: 2:198267483-198267483
GRCh38: 2:197402759-197402759
5 GNAQ NM_002072.5(GNAQ):c.625_626delinsTT (p.Gln209Leu) INDEL Likely Pathogenic
376311 rs1057519853 GRCh37: 9:80409488-80409489
GRCh38: 9:77794572-77794573
6 GNA11 NM_002067.5(GNA11):c.626A>C (p.Gln209Pro) SNV Likely Pathogenic
376001 rs1057519742 GRCh37: 19:3118942-3118942
GRCh38: 19:3118944-3118944
7 GNAQ NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) SNV Likely Pathogenic
375957 rs121913492 GRCh37: 9:80409488-80409488
GRCh38: 9:77794572-77794572
8 GNAQ NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) SNV Likely Pathogenic
375955 rs121913492 GRCh37: 9:80409488-80409488
GRCh38: 9:77794572-77794572
9 GNA11 NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) SNV Likely Pathogenic
376002 rs1057519742 GRCh37: 19:3118942-3118942
GRCh38: 19:3118944-3118944
10 EIF1AX NM_001412.4(EIF1AX):c.17G>T (p.Gly6Val) SNV Uncertain Significance
1708311 GRCh37: X:20156740-20156740
GRCh38: X:20138622-20138622
11 TMEM127 NM_017849.4(TMEM127):c.562A>G (p.Ile188Val) SNV Uncertain Significance
463853 rs762657413 GRCh37: 2:96919701-96919701
GRCh38: 2:96253963-96253963

Copy number variations for Melanoma, Uveal from CNVD:

6 (show all 33)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13320 1 1 124300000 Copy number Uveal melanoma
2 15978 1 120700000 121100000 Nomal NOTCH2 Uveal melanoma
3 21742 1 16100000 20300000 Nomal NBL1 Uveal melanoma
4 32197 1 34400000 46500000 Nomal MYCBP Uveal melanoma
5 32198 1 34400000 46500000 Nomal PTAFR Uveal melanoma
6 33591 1 46500000 51300000 Nomal MUTYH Uveal melanoma
7 35197 1 60900000 84700000 Nomal RPE65 Uveal melanoma
8 37517 1 9200000 12600000 Nomal MFN2 Uveal melanoma
9 166068 3 1 199501827 Copy number Uveal melanoma
10 168175 3 127700000 131500000 Loss RHO Uveal melanoma
11 170048 3 150400000 153500000 Loss MME Uveal melanoma
12 172555 3 18400000 104400000 Loss CPO Uveal melanoma
13 173444 3 193800000 199501827 Loss OPA1 Uveal melanoma
14 174743 3 32100000 43600000 Loss CTNNB1 Uveal melanoma
15 175394 3 39300000 43600000 Loss MLH1 Uveal melanoma
16 175735 3 43600000 51400000 Loss SEMA3B Uveal melanoma
17 177570 3 58500000 63700000 Loss FHIT Uveal melanoma
18 178910 3 81800000 83700000 Loss ROBO1 Uveal melanoma
19 179180 3 8700000 11500000 Loss FANCD2 Uveal melanoma
20 179181 3 8700000 11500000 Loss VHL Uveal melanoma
21 203641 6 1 170899992 Copy number Uveal melanoma
22 205639 6 130400000 131300000 Nomal CCN2 Uveal melanoma
23 207759 6 160900000 164400000 Nomal IGF2R Uveal melanoma
24 209014 6 2300000 4100000 Nomal Uveal melanoma
25 209045 6 23500000 26100000 Nomal DCDC2 Uveal melanoma
26 210240 6 29900000 45200000 Nomal RUNX2 Uveal melanoma
27 212309 6 36800000 40600000 Nomal CDKN1A Uveal melanoma
28 232746 8 119200000 122500000 Gain MYC Uveal melanoma
29 233772 8 127300000 140000000 Gain ASAP1 Uveal melanoma
30 238089 8 29700000 38500000 Nomal NRG1 Uveal melanoma
31 240056 8 45200000 146274826 Copy number Uveal melanoma
32 240078 19 67920024 67921999 Gain GDF15 Uveal melanoma
33 240624 8 52800000 55600000 Gain RP1 Uveal melanoma

Expression for Melanoma, Uveal

Search GEO for disease gene expression data for Melanoma, Uveal.

Pathways for Melanoma, Uveal

Pathways related to Melanoma, Uveal according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 PLCB4 NRAS GNAQ GNA11 CYSLTR2 BRAF
2
Show member pathways
12.59 BRAF GNA11 GNAQ NRAS PLCB4
3
Show member pathways
12 PLCB4 GNAQ GNA11
4
Show member pathways
11.87 PLCB4 NRAS GNA11 BRAF
5 11.74 NRAS GNAQ BRAF
6
Show member pathways
11.65 PLCB4 GNAQ GNA11 BRAF
7 11.61 GNAQ GNA11 BRAF
8 11.49 NRAS GNAQ GNA11 BRAF
9
Show member pathways
11.42 NRAS GNAQ BRAF
10 11.35 PLCB4 GNAQ GNA11
11 11.14 PLCB4 GNAQ GNA11
12 11.04 PLCB4 GNAQ GNA11
13 10.87 PLCB4 NRAS GNAQ GNA11
14 10.45 PLCB4 GNAQ GNA11
15 10.37 TYR MLANA MITF GNAQ

GO Terms for Melanoma, Uveal

Biological processes related to Melanoma, Uveal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phototransduction, visible light GO:0007603 9.26 GNAQ GNA11
2 entrainment of circadian clock GO:0009649 8.92 GNAQ GNA11

Molecular functions related to Melanoma, Uveal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl nucleotide binding GO:0019001 8.62 GNAQ GNA11

Sources for Melanoma, Uveal

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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