Immunohistochemical and molecular pathology of ocular uveal melanocytoma: evidence for somatic GNAQ mutations.

doi:10.1136/bjophthalmol-2013-303291

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Article

Immunohistochemical and molecular pathology of ocular uveal melanocytoma: evidence for somatic GNAQ mutations.

The British journal of ophthalmology - 1 Jul 2013

Mudhar Hardeep Singh, Doherty Rachel, Salawu Abdulazeez, Sisley Karen, Rennie Ian G

Abstract excerpt

OBJECTIVE: Intraocular melanocytoma is a rare naevus variant that can be located at the optic disc or within the uvea, and belongs to the group of non-epithelial-associated melanocytic lesions. We wanted to gain an understanding of the role of GNAQ, GNA11 and BRAF V600E in the pathogenesis of uveal melanocytoma and in cases of transformation to uveal melanoma and also to perform a differential immunohistochemical...

Topics

Adolescent
Adult
Cell Transformation, Neoplastic
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 8
Cyclin D1
Cyclin-Dependent Kinase Inhibitor p27
GTP-Binding Protein alpha Subunits
GTP-Binding Protein alpha Subunits, Gq-G11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Immunoenzyme Techniques

In Situ Hybridization, Fluorescence

MART-1 Antigen

Male

Melanoma

Melanoma-Specific Antigens

Mutation

Nevus, Pigmented

Source

Open in PubMed

Identifiers

PMID: 23685997
DOI: 10.1136/bjophthalmol-2013-303291

Genes

GNAQ
BRAF
GNA11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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