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

Autor: Gonzalez-H Leon A; Ocular Oncology Service, Princess Margaret Cancer Centre, Toronto, Ontario, Canada., Chavez Y; Ocular Oncology Service, Princess Margaret Cancer Centre, Toronto, Ontario, Canada., Kamil ZS; Laboratory Medicine & Pathobiology, Princess Margaret Hospital Cancer Centre, Toronto, Ontario, Canada., Ghazarian D; Laboratory Medicine & Pathobiology, Princess Margaret Hospital Cancer Centre, Toronto, Ontario, Canada., Krema H; Ocular Oncology Service, Princess Margaret Cancer Centre, Toronto, Ontario, Canada.
Jazyk: angličtina
Zdroj: Ophthalmic genetics [Ophthalmic Genet] 2022 Aug; Vol. 43 (4), pp. 518-521. Date of Electronic Publication: 2022 Mar 08.
DOI: 10.1080/13816810.2022.2039719
Abstrakt: Background: 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.
Patients and Methods: 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.
Results: Molecular analysis identified GNAQ and BAP1 pathogenic variants, which strongly suggested the diagnosis as a primary epibulbar melanoma arising from episcleral blue nevus.
Conclusion: 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: MEDLINE
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