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Presumed Melanoma of Unknown Primary Origin Metastatic to the Choroid Mimics Primary Uveal Melanoma
Journal article   Open access   Peer reviewed

Presumed Melanoma of Unknown Primary Origin Metastatic to the Choroid Mimics Primary Uveal Melanoma

John M Rieth, Randy Chris Bowen, Mohammed M Milhem, H. Culver Boldt and Elaine M Binkley
Case reports in ophthalmology, Vol.12(3), pp.987-993
12/28/2021
DOI: 10.1159/000521199
PMCID: PMC8787565
PMID: 35111035
url
https://doi.org/10.1159/000521199View
Published (Version of record) Open Access

Abstract

We describe the case of a 69-year-old woman who presented with a decline in vision in the left eye and was found to have a choroidal lesion with clinical and echographic features concerning for primary uveal melanoma. Systemic imaging identified numerous metastases to the liver, kidneys, paratracheal lymph nodes, lung, and brain. The hepatic lesion was biopsied, and genetic analysis identified a Val600Glu (c.1799T>A) BRAF mutation, consistent with a cutaneous primary malignancy, although no primary tumor was identified. This case highlights that metastasis to the choroid is a rare presentation of nonuveal melanoma that can mimic primary uveal melanoma. Genetic analysis of tumor tissue can identify the origin of the melanoma and guide treatment options. Systemic imaging should be performed prior to intervention for choroidal neoplasms.

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