Molecular and immunohistochemical analyses of uveal melanoma patient cohort

Helena C. Sarubi; Núbia B. Pereira; Carolina C. Gomes; Ricardo S. Gomez; Ana C.M. Carmo; Flavia M. Melo; Luciana Bastos-Rodrigues; Moisés S. Pedrosa; Eitan Friedman; Luiz De Marco

doi:10.1097/CMR.0000000000000523

Molecular and immunohistochemical analyses of uveal melanoma patient cohort

Helena C. Sarubi, Núbia B. Pereira, Carolina C. Gomes, Ricardo S. Gomez, Ana C.M. Carmo, Flavia M. Melo, Luciana Bastos-Rodrigues, Moisés S. Pedrosa, Eitan Friedman, Luiz De Marco^*

^*Corresponding author for this work

Clinical Departments

Universidade Federal de Minas Gerais

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

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.

Original language	English
Pages (from-to)	248-253
Number of pages	6
Journal	Melanoma Research
Volume	29
Issue number	3
DOIs	https://doi.org/10.1097/CMR.0000000000000523
State	Published - 1 Jun 2019

Funding

Funders	Funder number
Conselho Nacional de Desenvolvimento Cient?fico e Tecnol?gico
Pesquisa de Minas Gerais
Conselho Nacional de Desenvolvimento Científico e Tecnológico	405053/2013-4
Fundação de Amparo à Pesquisa do Estado de Minas Gerais	CDS-RED-00019-16

Keywords

BAP1
BRCA
GNA11
GNAQ
SF3B1
p53
uveal melanoma

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1097/CMR.0000000000000523

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title = "Molecular and immunohistochemical analyses of uveal melanoma patient cohort",

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.",

keywords = "BAP1, BRCA, GNA11, GNAQ, SF3B1, p53, uveal melanoma",

author = "Sarubi, {Helena C.} and Pereira, {N{\'u}bia B.} and Gomes, {Carolina C.} and Gomez, {Ricardo S.} and Carmo, {Ana C.M.} and Melo, {Flavia M.} and Luciana Bastos-Rodrigues and Pedrosa, {Mois{\'e}s S.} and Eitan Friedman and {De Marco}, Luiz",

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doi = "10.1097/CMR.0000000000000523",

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AU - Sarubi, Helena C.

AU - Pereira, Núbia B.

AU - Gomes, Carolina C.

AU - Gomez, Ricardo S.

AU - Carmo, Ana C.M.

AU - Melo, Flavia M.

AU - Bastos-Rodrigues, Luciana

AU - Pedrosa, Moisés S.

AU - Friedman, Eitan

AU - De Marco, Luiz

PY - 2019/6/1

Y1 - 2019/6/1

N2 - 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.

AB - 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.

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KW - BRCA

KW - GNA11

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KW - SF3B1

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ER -

Molecular and immunohistochemical analyses of uveal melanoma patient cohort

Abstract

Funding

Keywords

UN SDGs

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