Abstract:
:Uveal melanoma is a rare form of melanoma and the most frequent primary eye malignancy in adults. The major molecular alterations underlying uveal melanoma pathogenesis affect mainly the GNAQ, GNA11, SF3B1, and BAP1 genes. In this study, we somatically genotyped 31 Brazilian uveal melanomas for BRAF, GNA11, GNAQ, SF3B1, and BAP1 gene mutations and assessed BRCA2 and p53 protein expression. GNAQ and GNA11 mutations were detected in 60%, and SF3B1 mutation rate was 30%. p53 Immunostaining was markedly positive in 5/31, and 3/31 samples showed negative BRCA2 expression. This study supports the importance of these key genes in uveal melanoma tumorigenesis; p53 and BRCA pathways seem to play a role in a subset of patients, possibly heralding unfavorable prognosis.
journal_name
Melanoma Resjournal_title
Melanoma researchauthors
Sarubi HC,Pereira NB,Gomes CC,Gomez RS,Carmo ACM,Melo FM,Bastos-Rodrigues L,Pedrosa MS,Friedman E,De Marco Ldoi
10.1097/CMR.0000000000000523subject
Has Abstractpub_date
2019-06-01 00:00:00pages
248-253issue
3eissn
0960-8931issn
1473-5636journal_volume
29pub_type
杂志文章abstract::The aim of our study was to evaluate the clinical and morphological features of primary malignant melanomas of the urinary bladder. We obtained information on five such cases from three different institutions. These were three men and two women between 52 and 76 years of age. Three tumors presented with hematuria, one...
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journal_title:Melanoma research
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journal_title:Melanoma research
pub_type: 杂志文章
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doi:10.1097/00008390-200412000-00019
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journal_title:Melanoma research
pub_type: 临床试验,杂志文章,多中心研究
doi:
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journal_title:Melanoma research
pub_type: 杂志文章
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journal_title:Melanoma research
pub_type: 杂志文章
doi:10.1097/00008390-199802000-00002
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pub_type: 杂志文章
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journal_title:Melanoma research
pub_type: 杂志文章
doi:10.1097/00008390-200108000-00002
更新日期:2001-08-01 00:00:00
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journal_title:Melanoma research
pub_type: 杂志文章,meta分析,评审
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更新日期:2016-04-01 00:00:00
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journal_title:Melanoma research
pub_type: 杂志文章
doi:10.1097/00008390-199712000-00006
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journal_title:Melanoma research
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journal_title:Melanoma research
pub_type: 杂志文章
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journal_title:Melanoma research
pub_type: 杂志文章
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journal_title:Melanoma research
pub_type: 杂志文章
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journal_title:Melanoma research
pub_type: 杂志文章,评审
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