Multiple genetically distinct uveal melanomas arise in the same eye of two patients with melanosis oculi

Sushant Wagley, Peter J Belin, James J Dollar, J. William Harbour, Amy Maltry, Prithvi Mruthyunjaya, Amy C Schefler, Peter H Tang

Research output: Contribution to journalArticlepeer-review

Abstract

PURPOSE: To determine whether unilateral multifocal uveal melanomas (UM) in the setting of ocular melanosis (melanosis oculi) represent genetically independent tumors.

DESIGN: Clinical case series.

METHODS: Two patients with unilateral multifocal UM in the setting of melanosis oculi were included. Tumors were evaluated for gene expression profile (GEP) and next generation sequencing (NGS) for uveal melanoma-associated mutations. Histopathologic analysis of enucleated specimens was also performed when available.

RESULTS: Patients were both female, ages 73 and 83 years. In Patient #1, the tumors both exhibited Class 2 GEP but each harbored a unique BAP1 mutation. In Patient #2, one tumor was Class 1 and harbored an SF3B1 mutation, whereas the other tumor was Class 2 and harbored a BAP1 mutation.

CONCLUSIONS: Unilateral multifocal UM in the setting of melanosis oculi can arise due to the development of genetically independent primary tumors, which is detectable based on the mutation profile of each tumor. This is the first report of genetically-confirmed independent primary tumors in the setting of unilateral multifocal UM.
Original languageEnglish (US)
Pages (from-to)1-5
Number of pages5
JournalAmerican journal of ophthalmology
Volume234
Early online dateJul 17 2021
DOIs
StateE-pub ahead of print - Jul 17 2021

Bibliographical note

Funding Information:
Funding/Support No financial source supported this work.

Publisher Copyright:
© 2021 Elsevier Inc.

Keywords

  • BAP1
  • cancer
  • choroidal melanoma
  • GNAQ
  • melanoma
  • oculodermal melanocytosis
  • PRAME
  • SF3B1
  • tumor
  • Uveal melanoma

PubMed: MeSH publication types

  • Journal Article

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