uveal melanoma
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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
- Q209 mutations are found in
- 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
- Q209 mutations are found in
- genetic variations in BRCA2, CDKN2A & CDKN2B may underlie susceptibility to uveal melanoma
Complications
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]
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P51587.html
- ↑ OMIM https://mirror.omim.org/entry/155720
- ↑ 3.0 3.1 3.2 3.3 Van Raamsdonk CD et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010 Nov 17; <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/21083380 <Internet> 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 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/21083377 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMe1010681 - ↑ 4.0 4.1 4.2 Castellino AM Uveal Melanoma: Better Survival With Liver-Directed Therapy. Medscape - Jun 12, 2018. https://www.medscape.com/viewarticle/897992