Diagnosis of the origin of an epibulbar melanocytic tumor with molecular genomics

Autor:	Ana Gonzalez-H.Leon, Yael Chavez, Zaid Saeed Kamil, Danny Ghazarian, Hatem Krema
Rok vydání:	2022
Předmět:	Uveal Neoplasms Ophthalmology Skin Neoplasms Nevus Blue Pediatrics Perinatology and Child Health Humans Female Genomics Middle Aged Melanoma Genetics (clinical)
Zdroj:	Ophthalmic genetics. 43(4)
ISSN:	1744-5094
Popis:	Uveal melanoma (UM) and conjunctival melanoma (CM) are distinct entities with different etiologies and genetic background. We present a case of an atypical subconjunctival melanoma arising from a blue nevus.A 61-year-old female presented with a partially melanocytic epibulbar mass with surrounding episcleral pigmented spots. The lesion was detached from the overlying conjunctiva without an intraocular component. Excisional biopsy revealed a predominantly epithelioid melanoma, that was suggested to be metastasic, although there was no evidence of a primary melanoma elsewhere.Molecular analysis identified GNAQ and BAP1 pathogenic variants, which strongly suggested the diagnosis as a primary epibulbar melanoma arising from episcleral blue nevus.This case demonstrates the value of tumor molecular analysis using Next Generation Sequencing (NGS) for differentiating the origin of an unusually located ocular melanoma.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebe7101bc7697af832f01cc7d91a6937 https://pubmed.ncbi.nlm.nih.gov/35258412 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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