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

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, paratrachea...

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Autores principales: Rieth, John M., Bowen, Randy Chris, Milhem, Mohammed M., Boldt, H. Culver, Binkley, Elaine M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8787565/
https://www.ncbi.nlm.nih.gov/pubmed/35111035
http://dx.doi.org/10.1159/000521199
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author Rieth, John M.
Bowen, Randy Chris
Milhem, Mohammed M.
Boldt, H. Culver
Binkley, Elaine M.
author_facet Rieth, John M.
Bowen, Randy Chris
Milhem, Mohammed M.
Boldt, H. Culver
Binkley, Elaine M.
author_sort Rieth, John M.
collection PubMed
description 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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spelling pubmed-87875652022-02-01 Presumed Melanoma of Unknown Primary Origin Metastatic to the Choroid Mimics Primary Uveal Melanoma Rieth, John M. Bowen, Randy Chris Milhem, Mohammed M. Boldt, H. Culver Binkley, Elaine M. Case Rep Ophthalmol Case Report 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. S. Karger AG 2021-12-28 /pmc/articles/PMC8787565/ /pubmed/35111035 http://dx.doi.org/10.1159/000521199 Text en Copyright © 2021 by The Author(s). Published by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Rieth, John M.
Bowen, Randy Chris
Milhem, Mohammed M.
Boldt, H. Culver
Binkley, Elaine M.
Presumed Melanoma of Unknown Primary Origin Metastatic to the Choroid Mimics Primary Uveal Melanoma
title Presumed Melanoma of Unknown Primary Origin Metastatic to the Choroid Mimics Primary Uveal Melanoma
title_full Presumed Melanoma of Unknown Primary Origin Metastatic to the Choroid Mimics Primary Uveal Melanoma
title_fullStr Presumed Melanoma of Unknown Primary Origin Metastatic to the Choroid Mimics Primary Uveal Melanoma
title_full_unstemmed Presumed Melanoma of Unknown Primary Origin Metastatic to the Choroid Mimics Primary Uveal Melanoma
title_short Presumed Melanoma of Unknown Primary Origin Metastatic to the Choroid Mimics Primary Uveal Melanoma
title_sort presumed melanoma of unknown primary origin metastatic to the choroid mimics primary uveal melanoma
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8787565/
https://www.ncbi.nlm.nih.gov/pubmed/35111035
http://dx.doi.org/10.1159/000521199
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