MCID: EXT029
MIFTS: 25

Extraocular Retinoblastoma

Categories: Cancer diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Extraocular Retinoblastoma

MalaCards integrated aliases for Extraocular Retinoblastoma:

Name: Extraocular Retinoblastoma 12 15 71
Pediatric Extraocular Retinoblastoma 71

Classifications:



External Ids:

Disease Ontology 12 DOID:4656
NCIt 50 C7848
UMLS 71 C0278719 C1321870

Summaries for Extraocular Retinoblastoma

Disease Ontology : 12 A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body.

MalaCards based summary : Extraocular Retinoblastoma, also known as pediatric extraocular retinoblastoma, is related to retinoblastoma and intraocular retinoblastoma. An important gene associated with Extraocular Retinoblastoma is BCOR (BCL6 Corepressor). The drugs Vincristine and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and spinal cord, and related phenotype is nervous system.

Related Diseases for Extraocular Retinoblastoma

Diseases related to Extraocular Retinoblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinoblastoma 30.3 RBL2 MDM4 KIF14
2 intraocular retinoblastoma 29.8 MDM4 BCOR
3 pediatric extraocular retinoblastoma 11.6
4 microphthalmia, syndromic 1 9.9 VSX2 BCOR
5 syndromic microphthalmia 9.8 VSX2 BCOR
6 retinal cancer 9.6 RBL2 MDM4
7 bilateral retinoblastoma 9.6 VSX2 RBL2 MDM4
8 unilateral retinoblastoma 9.3 VSX2 RBL2 MDM4 KIF14

Graphical network of the top 20 diseases related to Extraocular Retinoblastoma:



Diseases related to Extraocular Retinoblastoma

Symptoms & Phenotypes for Extraocular Retinoblastoma

MGI Mouse Phenotypes related to Extraocular Retinoblastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 BCOR KIF14 MDM4 NSL1 RBL2 VSX2

Drugs & Therapeutics for Extraocular Retinoblastoma

Drugs for Extraocular Retinoblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
2
Etoposide Approved Phase 3 33419-42-0 36462
3
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
4
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
5
Lenograstim Approved, Investigational Phase 3 135968-09-1
6
Thiotepa Approved, Investigational Phase 3 52-24-4 5453
7
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
8
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
9 Immunologic Factors Phase 3
10 Immunosuppressive Agents Phase 3
11 Antimitotic Agents Phase 3
12 Tubulin Modulators Phase 3
13 Etoposide phosphate Phase 3
14 Alkylating Agents Phase 3
15 Antirheumatic Agents Phase 3
16 Dermatologic Agents Phase 3
17 Keratolytic Agents Phase 3
18 Adjuvants, Immunologic Phase 3
19 Podophyllotoxin Phase 3 518-28-5
20
Arsenic trioxide Approved, Investigational Phase 2 1327-53-3 518740
21
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
22
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
23
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
24
Acetaminophen Approved Phase 2 103-90-2 1983
25
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
26
Iodine Approved, Investigational Phase 2 7553-56-2 807
27
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
28
Promethazine Approved, Investigational Phase 2 60-87-7 4927
29
Cadexomer iodine Experimental Phase 2 94820-09-4
30 Antibiotics, Antitubercular Phase 2
31 topoisomerase I inhibitors Phase 2
32 Anti-Bacterial Agents Phase 2
33
Liposomal doxorubicin Phase 2 31703
34 Immunoglobulins Phase 2
35 Antibodies Phase 2
36 Antibodies, Monoclonal Phase 2
37
Mesna Approved, Investigational Phase 1 3375-50-6 598
38
Melphalan Approved Phase 1 148-82-3 4053 460612
39
Busulfan Approved, Investigational Phase 1 55-98-1 2478
40
Ifosfamide Approved Phase 1 3778-73-2 3690
41 Molgramostim Investigational Phase 1 99283-10-0
42 Liver Extracts Phase 1
43
Isophosphamide mustard Phase 1 100427
44
Cytarabine Approved, Investigational 147-94-4 6253
45
Ethanol Approved 64-17-5 702
46 Anti-Infective Agents
47 Antiviral Agents

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 CEV With/Without Periocular Carboplatin Chemotherapy for Nonmetastatic Extraocular Retinoblastoma Carboplatin--A Single Center, Retrospective Study to Evaluate the Efficacy of Carboplatin in Subjects With Retinoblastoma Completed NCT02319486 Phase 4 carboplatin periocular injection;CEV chemotherapy
2 A Trial of Intensive Multi-Modality Therapy for Extra-Ocular Retinoblastoma Active, not recruiting NCT00554788 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Thiotepa;Vincristine Sulfate
3 A Phase II Trial of Rebeccamycin Analogue (NSC #655649) in Children With Solid Tumors Completed NCT00006102 Phase 2 becatecarin
4 Phase II Study of Arsenic Trioxide in Neuroblastoma and Other Pediatric Solid Tumors Completed NCT00024258 Phase 2 arsenic trioxide
5 Treatment for Extrachoroidal or Metastatic Retinoblastoma Completed NCT00004006 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;topotecan hydrochloride
6 Phase II Study of Intrathecal I-3F8 in Patients With GD2-Expressing Central Nervous System and Leptomeningeal Neoplasms Active, not recruiting NCT00445965 Phase 2
7 Dose Intensive Chemotherapy for Children Less Than Ten Years of Age Newly-Diagnosed With Malignant Brain Tumors: A Pilot Study of Two Alternative Intensive Induction Chemotherapy Regimens, Followed by Consolidation With Myeloablative Chemotherapy (Thiotepa, Etoposide and Carboplatin) and Autologous Stem Cell Rescue Withdrawn NCT00003273 Phase 2 carboplatin;cisplatin;cyclophosphamide;etoposide;leucovorin calcium;methotrexate;temozolomide;thiotepa;vincristine sulfate
8 Phase I Study of Intrathecal 131-I-3F8 Monoclonal Antibody in Patients With GD2 Positive Leptomeningeal Neoplasms Completed NCT00003022 Phase 1
9 Dose Escalation of Total Marrow Irradiation Added to an Alkylator-Intense Conditioning Regimen for Patients With High Risk or Relapsed Solid Tumors Terminated NCT00623077 Phase 1 busulfan;etoposide;ifosfamide;melphalan;thiotepa;Mesna
10 A Data Collection Study to Compare the Outcome for Children With Advanced Unilateral Retinoblastoma Treated With or Without Post-Enucleation Chemotherapy ± Radiotherapy on RB 2005 11 With Historical Controls Receiving no Additional Therapy Unknown status NCT00360750 carboplatin;cytarabine;etoposide;vincristine sulfate
11 Carcinogen Metabolism, DNA Repair, Parental Exposures and Retinoblastoma Completed NCT00690469

Search NIH Clinical Center for Extraocular Retinoblastoma

Genetic Tests for Extraocular Retinoblastoma

Anatomical Context for Extraocular Retinoblastoma

MalaCards organs/tissues related to Extraocular Retinoblastoma:

40
Eye, Liver, Spinal Cord

Publications for Extraocular Retinoblastoma

Articles related to Extraocular Retinoblastoma:

(show all 34)
# Title Authors PMID Year
1
Recurrent Somatic Chromosomal Abnormalities in Relapsed Extraocular Retinoblastoma. 61
33567541 2021
2
Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries. 61
32933936 2020
3
Global Retinoblastoma Presentation and Analysis by National Income Level. 61
32105305 2020
4
Clinical Presentations and Outcomes of Retinoblastoma Patients in relation to the Advent of New Multimodal Treatments: A 12-Year Report from Single Tertiary Referral Institute in Thailand. 61
33005446 2020
5
Successful Treatment of Relapsed Isolated Extraocular Retinoblastoma in the Right Fibula With High-dose Chemotherapy and Autologous Stem Cell Transplantation. 61
30933027 2019
6
Concomitant Intraocular Retinoblastoma and Choroidal Hemangioma in a 1-Year-Old Boy. 61
28984344 2019
7
Combined high-dose intra-arterial and intrathecal chemotherapy for the treatment of a case of extraocular retinoblastoma. 61
30105793 2018
8
Magnetic resonance imaging for tumor restaging after chemotherapy in retinoblastoma with optic nerve invasion. 61
30089224 2018
9
Retinoblastoma in Sub-Saharan Africa: Case Studies of the Republic of Côte d'Ivoire and the Democratic Republic of the Congo. 61
30241234 2018
10
Outcome of extraocular retinoblastoma in a resource limited center from low middle income country. 61
29337595 2017
11
Extraocular retinoblastoma: a neglected case. 61
28546235 2017
12
Topotecan Delivery to the Optic Nerve after Ophthalmic Artery Chemosurgery. 61
26959658 2016
13
[Clinical features of retinoblastoma in Tunisia]. 61
24792399 2014
14
Comparison of staging systems for extraocular retinoblastoma: analysis of 533 patients. 61
23787805 2013
15
Retinoblastoma in Turkey: results from a tertiary care center in Ankara. 61
23937863 2013
16
Extraocular retinoblastoma in Indian children: clinical, imaging and histopathological features. 61
23991383 2013
17
Current therapy and recent advances in the management of retinoblastoma. 61
22988349 2012
18
Treatment and outcome of nonmetastatic extraocular retinoblastoma with a uniform chemotherapy protocol. 61
20168241 2010
19
Familial retinoblastoma in developing countries. 61
19434730 2009
20
Systemic metastasis following hyphema drainage in an unsuspected retinoblastoma. 61
17410964 2007
21
Retinoblastoma with spinal recurrence presenting as spinal cord compression. 61
16801038 2006
22
Results of treatment of retinoblastoma that has infiltrated the optic nerve, is recurrent, or has metastasized outside the eyeball. 61
15162820 2004
23
Approaches to treatment for extraocular retinoblastoma: Children's Hospital Los Angeles experience. 61
14707710 2004
24
Extraocular retinoblastoma: a 13-year experience. 61
12973854 2003
25
Encouraging result of tamoxifen in a retinoblastoma patient with central nervous system metastasis. 61
14631622 2003
26
Treatment of overt extraocular retinoblastoma. 61
12518344 2003
27
Extraocular retinoblastoma. 61
10881012 2000
28
Phase II window of idarubicin in children with extraocular retinoblastoma. 61
10561224 1999
29
Role of chemotherapy alone or in combination with hyperthermia in the primary treatment of intraocular retinoblastoma: preliminary results. 61
9924303 1998
30
Proposal for a New Staging Scheme for Intraocular and Extraocular Retinoblastoma Based on an Analysis of 103 Globes. 61
10388023 1997
31
Etoposide and carboplatin in extraocular retinoblastoma: a study by the Société Française d'Oncologie Pédiatrique. 61
7707117 1995
32
Chemotherapy for extraocular retinoblastoma. 61
8060814 1994
33
Intraocular and extraocular retinoblastoma. 61
3323180 1987
34
The use of chemotherapy for extraocular retinoblastoma. 61
4046972 1985

Variations for Extraocular Retinoblastoma

Expression for Extraocular Retinoblastoma

Search GEO for disease gene expression data for Extraocular Retinoblastoma.

Pathways for Extraocular Retinoblastoma

GO Terms for Extraocular Retinoblastoma

Cellular components related to Extraocular Retinoblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.17 VSX2 TUT1 RBL2 NSL1 MDM4 KIF14

Biological processes related to Extraocular Retinoblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 8.62 RBL2 MDM4

Molecular functions related to Extraocular Retinoblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.8 VSX2 RBL2 BCOR

Sources for Extraocular Retinoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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