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uveal melanoma
Epidemiology:
- the most common type of ocular malignant tumor
Pathology:
- overgrowth of uveal melanocytes & often preceded by a uveal nevus
Genetics:
- GNAQ mutations in 40% of uveal melanomas [3]
- Q209 mutations are found in
- 55% of blue nevi
- 45% of uveal melanomas
- 22% of uveal melanoma metastases
- mutations in GNA11 (a paralogue of GNAQ) [3]
- Q209 mutations are found in
- 7% of blue nevi
- 32% of primary uveal melanomas
- 57% of uveal melanoma metastases
- genetic variations in BRCA2, CDKN2A & CDKN2B may underlie susceptibility to uveal melanoma
Complications:
- liver metastases [4]
Management:
- surgical resection
- liver-directed therapy for liver metastases
- transarterial chemoembolization (TACE) with BCNU
- drug-eluting beads with doxorubicin, immunoembolization
- radioembolization may be preferred treatment [4]
- tebentafusp-tebn (Kimmtrak) for patients with HLA-A*02:01
Comparative biology:
- in mice, GNA11 mutations induce spontaneously metastasizing tumors & activated mitogen-activated protein kinase pathway [3]
Interactions
disease interactions
General
intraocular melanoma
Database Correlations
OMIM correlations
References
- UniProt :accession P51587
- OMIM :accession 155720
- Van Raamsdonk CD et al.
Mutations in GNA11 in uveal melanoma.
N Engl J Med 2010 Nov 17;
PMID: 21083380
http://www.nejm.org/doi/full/10.1056/NEJMoa1000584
- Herlyn M and Nathanson KL.
Taking the guesswork out of ocular melanoma.
N Engl J Med 2010 Nov 17
PMID: 21083377
http://www.nejm.org/doi/full/10.1056/NEJMe1010681
- Castellino AM
Uveal Melanoma: Better Survival With Liver-Directed Therapy.
Medscape - Jun 12, 2018.
https://www.medscape.com/viewarticle/897992