Uveal melanoma pathophysiology: Difference between revisions
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*Inactivating somatic mutations are present in the gene encoding BRCA1-associated protein 1 (BAP1) on chromosome 3p21.1. The mutations in the gene BAP1 are strongly linked to metastatic spread and patient survival.<ref name="pmid3087380">{{cite journal| author=McGrath JJ| title=Nicotine and carbon monoxide: effects on the isolated rat heart. | journal=Alcohol | year= 1986 | volume= 3 | issue= 2 | pages= 157-60 | pmid=3087380 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3087380 }} </ref> In approximately five percent of patients with uveal melanomas germline mutations have been identified in ''BAP1,'' and these have been associated with involvement of the ciliary body and larger tumors.<ref name="pmid25974357">{{cite journal| author=Gupta MP, Lane AM, DeAngelis MM, Mayne K, Crabtree M, Gragoudas ES et al.| title=Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations. | journal=JAMA Ophthalmol | year= 2015 | volume= 133 | issue= 8 | pages= 881-7 | pmid=25974357 | doi=10.1001/jamaophthalmol.2015.1119 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25974357 }} </ref> | *Inactivating somatic mutations are present in the gene encoding BRCA1-associated protein 1 (BAP1) on chromosome 3p21.1. The mutations in the gene BAP1 are strongly linked to metastatic spread and patient survival.<ref name="pmid3087380">{{cite journal| author=McGrath JJ| title=Nicotine and carbon monoxide: effects on the isolated rat heart. | journal=Alcohol | year= 1986 | volume= 3 | issue= 2 | pages= 157-60 | pmid=3087380 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3087380 }} </ref> In approximately five percent of patients with uveal melanomas germline mutations have been identified in ''BAP1,'' and these have been associated with involvement of the ciliary body and larger tumors.<ref name="pmid25974357">{{cite journal| author=Gupta MP, Lane AM, DeAngelis MM, Mayne K, Crabtree M, Gragoudas ES et al.| title=Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations. | journal=JAMA Ophthalmol | year= 2015 | volume= 133 | issue= 8 | pages= 881-7 | pmid=25974357 | doi=10.1001/jamaophthalmol.2015.1119 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25974357 }} </ref> | ||
*In approximately 18.6 percent of primary uveal melanomas recurring mutations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1 were identified.<ref name="pmid23313955">{{cite journal| author=Harbour JW, Roberson ED, Anbunathan H, Onken MD, Worley LA, Bowcock AM| title=Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. | journal=Nat Genet | year= 2013 | volume= 45 | issue= 2 | pages= 133-5 | pmid=23313955 | doi=10.1038/ng.2523 | pmc=PMC3789378 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23313955 }} </ref | *In approximately 18.6 percent of primary uveal melanomas recurring mutations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1 were identified.<ref name="pmid23313955">{{cite journal| author=Harbour JW, Roberson ED, Anbunathan H, Onken MD, Worley LA, Bowcock AM| title=Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. | journal=Nat Genet | year= 2013 | volume= 45 | issue= 2 | pages= 133-5 | pmid=23313955 | doi=10.1038/ng.2523 | pmc=PMC3789378 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23313955 }} </ref | ||
== References == | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 04:21, 21 October 2015
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Uveal melanoma Microchapters |
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Uveal melanoma pathophysiology On the Web |
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Risk calculators and risk factors for Uveal melanoma pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]
Overview
Genes involved in the pathogenesis of uveal melanoma include GNAQ, GNA11, and BAP1.
Pathophysiology
- Uveal melanoma frequently harbors early activating mutations in GNAQ or GNA11, genes encoding for G protein alpha subunits. These mutations lead to activation of downstream signaling pathways including the MAPK pathway in uveal melanoma.[1][2][3]
- Inactivating somatic mutations are present in the gene encoding BRCA1-associated protein 1 (BAP1) on chromosome 3p21.1. The mutations in the gene BAP1 are strongly linked to metastatic spread and patient survival.[4] In approximately five percent of patients with uveal melanomas germline mutations have been identified in BAP1, and these have been associated with involvement of the ciliary body and larger tumors.[5]
- In approximately 18.6 percent of primary uveal melanomas recurring mutations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1 were identified.<ref name="pmid23313955">Harbour JW, Roberson ED, Anbunathan H, Onken MD, Worley LA, Bowcock AM (2013). "Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma". Nat Genet. 45 (2): 133–5. doi:10.1038/ng.2523. PMC 3789378. PMID 23313955. </ref
References
- ↑ Van Raamsdonk CD, Griewank KG, Crosby MB, Garrido MC, Vemula S, Wiesner T; et al. (2010). "Mutations in GNA11 in uveal melanoma". N Engl J Med. 363 (23): 2191–9. doi:10.1056/NEJMoa1000584. PMC 3107972. PMID 21083380.
- ↑ Van Raamsdonk CD, Bezrookove V, Green G, Bauer J, Gaugler L, O'Brien JM; et al. (2009). "Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi". Nature. 457 (7229): 599–602. doi:10.1038/nature07586. PMC 2696133. PMID 19078957.
- ↑ Shoushtari AN, Carvajal RD (2014). "GNAQ and GNA11 mutations in uveal melanoma". Melanoma Res. 24 (6): 525–34. doi:10.1097/CMR.0000000000000121. PMID 25304237.
- ↑ McGrath JJ (1986). "Nicotine and carbon monoxide: effects on the isolated rat heart". Alcohol. 3 (2): 157–60. PMID 3087380.
- ↑ Gupta MP, Lane AM, DeAngelis MM, Mayne K, Crabtree M, Gragoudas ES; et al. (2015). "Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations". JAMA Ophthalmol. 133 (8): 881–7. doi:10.1001/jamaophthalmol.2015.1119. PMID 25974357.