Dataset Information

Next-generation sequencing of a large uveal melanoma with whole genome doubling and a PBRM1 mutation.

ABSTRACT:

Purpose

To report a large uveal melanoma with extra-scleral extension which underwent spontaneous infarction and its unique molecular signature profile.

Observations

An 81-year-old female presented with a blind, painful eye. Intraocular pressure was 48 mm Hg. There was a large subconjunctival melanotic mass overlying a choroidal melanoma with anterior extension involving the ciliary body and the iridocorneal angle and iris. Ultrasonography confirmed a dome-shaped anterior cilio-choroidal mass with extra-scleral extension. The patient underwent enucleation and pathologic evaluation confirmed cilio-choroidal melanoma. The posterior half of the tumor involving the ciliary body and the extra-scleral component were spontaneously infarcted and were composed of large melanophages. Next-generation sequencing demonstrated a splice site mutation in PBRM1 and whole-genome doubling in addition to a GNAQ hotspot mutation, chromosome 3 loss and 8q gain.

Conclusions and importance

This case of a large, auto-infarcted uveal melanoma demonstrates a PBRM1 mutation and whole-genome doubling.

SUBMITTER: Ahmad TR

PROVIDER: S-EPMC10245097 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature

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Publications

Next-generation sequencing of a large uveal melanoma with whole genome doubling and a <i>PBRM1</i> mutation.

Ahmad Tessnim R TR Pekmezci Melike M Bloomer Michele M MM Grenert James P JP Afshar Armin R AR

American journal of ophthalmology case reports 20230527

<h4>Purpose</h4>To report a large uveal melanoma with extra-scleral extension which underwent spontaneous infarction and its unique molecular signature profile.<h4>Observations</h4>An 81-year-old female presented with a blind, painful eye. Intraocular pressure was 48 mm Hg. There was a large subconjunctival melanotic mass overlying a choroidal melanoma with anterior extension involving the ciliary body and the iridocorneal angle and iris. Ultrasonography confirmed a dome-shaped anterior cilio-ch ...[more]

PMID: 37293395

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