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Multiple Genetically Distinct Uveal Melanomas Arise in the Same Eye of Two Patients with Melanosis Oculi.

Publication ,  Journal Article
Wagley, S; Belin, PJ; Dollar, JJ; Harbour, JW; Maltry, AC; Mruthyunjaya, P; Schefler, AC; Tang, PH
Published in: Am J Ophthalmol
February 2022

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.

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Published In

Am J Ophthalmol

DOI

EISSN

1879-1891

Publication Date

February 2022

Volume

234

Start / End Page

1 / 5

Location

United States

Related Subject Headings

  • Uveal Neoplasms
  • Ubiquitin Thiolesterase
  • Tumor Suppressor Proteins
  • Ophthalmology & Optometry
  • Mutation
  • Melanosis
  • Melanoma
  • Humans
  • Female
  • Aged, 80 and over
 

Citation

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MLA
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Wagley, S., Belin, P. J., Dollar, J. J., Harbour, J. W., Maltry, A. C., Mruthyunjaya, P., … Tang, P. H. (2022). Multiple Genetically Distinct Uveal Melanomas Arise in the Same Eye of Two Patients with Melanosis Oculi. Am J Ophthalmol, 234, 1–5. https://doi.org/10.1016/j.ajo.2021.06.037
Wagley, Sushant, Peter J. Belin, James J. Dollar, J William Harbour, Amanda C. Maltry, Prithvi Mruthyunjaya, Amy C. Schefler, and Peter H. Tang. “Multiple Genetically Distinct Uveal Melanomas Arise in the Same Eye of Two Patients with Melanosis Oculi.Am J Ophthalmol 234 (February 2022): 1–5. https://doi.org/10.1016/j.ajo.2021.06.037.
Wagley S, Belin PJ, Dollar JJ, Harbour JW, Maltry AC, Mruthyunjaya P, et al. Multiple Genetically Distinct Uveal Melanomas Arise in the Same Eye of Two Patients with Melanosis Oculi. Am J Ophthalmol. 2022 Feb;234:1–5.
Wagley, Sushant, et al. “Multiple Genetically Distinct Uveal Melanomas Arise in the Same Eye of Two Patients with Melanosis Oculi.Am J Ophthalmol, vol. 234, Feb. 2022, pp. 1–5. Pubmed, doi:10.1016/j.ajo.2021.06.037.
Wagley S, Belin PJ, Dollar JJ, Harbour JW, Maltry AC, Mruthyunjaya P, Schefler AC, Tang PH. Multiple Genetically Distinct Uveal Melanomas Arise in the Same Eye of Two Patients with Melanosis Oculi. Am J Ophthalmol. 2022 Feb;234:1–5.
Journal cover image

Published In

Am J Ophthalmol

DOI

EISSN

1879-1891

Publication Date

February 2022

Volume

234

Start / End Page

1 / 5

Location

United States

Related Subject Headings

  • Uveal Neoplasms
  • Ubiquitin Thiolesterase
  • Tumor Suppressor Proteins
  • Ophthalmology & Optometry
  • Mutation
  • Melanosis
  • Melanoma
  • Humans
  • Female
  • Aged, 80 and over