Abstract:
:The liver is the organ usually affected by metastatic uveal melanoma (MUM). Current treatments are almost always ineffective and mortality remains high. In this study, copy number variations (CNVs) were identified in 12 metastatic and five matched primary UMs (PUMs). Our data revealed a wide spectrum of genetic alterations in MUM. Most common were amplifications of chromosome (chr.) 8q; alterations on chr. 3 included monosomy, isodisomy, and large regions of homozygosity (ROH). Genomic profiles of PUM-MUM pairs varied in their degree of similarity and complexity. However, within the pairs, 135 genes were consistently altered. Protein expression of C-MYC and BAP1 was examined by immunohistochemistry (IHC); a positive association between IHC and CNVs was seen for C-MYC. This comprehensive catalogue of CNVs associated with MUM should facilitate the identification of key alterations that drive tumor growth. This would have the potential to select urgently needed novel, targeted, therapeutic regimens.
journal_name
Pigment Cell Melanoma Resjournal_title
Pigment cell & melanoma researchauthors
McCarthy C,Kalirai H,Lake SL,Dodson A,Damato BE,Coupland SEdoi
10.1111/pcmr.12433subject
Has Abstractpub_date
2016-01-01 00:00:00pages
60-7issue
1eissn
1755-1471issn
1755-148Xjournal_volume
29pub_type
杂志文章abstract::Binding of melanocortin peptide agonists to the melanocortin-1 receptor of melanocytes results in eumelanin production, whereas binding of the agouti signalling protein inverse agonist results in pheomelanin synthesis. Recently, a novel melanocortin-1 receptor ligand was reported. A β-defensin gene mutation was found ...
journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
pub_type: 杂志文章
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
pub_type: 杂志文章,评审
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
pub_type: 杂志文章
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更新日期:2018-05-01 00:00:00
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journal_title:Pigment cell & melanoma research
pub_type: 杂志文章,评审
doi:10.1111/pcmr.12267
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
pub_type: 杂志文章
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journal_title:Pigment cell & melanoma research
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journal_title:Pigment cell & melanoma research
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