Multiple Genetically Distinct Uveal Melanomas Arise in the Same Eye of Two Patients with Melanosis Oculi - 02/02/22

Doi : 10.1016/j.ajo.2021.06.037

Sushant Wagley ¹, Peter J. Belin ¹, James J. Dollar ², J. William Harbour ², Amanda C. Maltry ^3,⁴, Prithvi Mruthyunjaya ⁵, Amy C. Schefler ⁶, Peter H. Tang ^1,^3,^⁎
¹ VitreoRetinal Surgery, P.L.L.C., Minneapolis, MN, USA (S.W., P.J.B., P.H.T.)
² Bascom Palmer Eye Institute and the Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, FL, USA (J.J.D., J.W.H.)
³ Department of Ophthalmology & Visual Neurosciences, University of Minnesota School of Medicine, Minneapolis, MN, USA (A.C.M., P.H.T.)
⁴ Department of Laboratory Medicine and Pathology, University of Minnesota School of Medicine, Minneapolis, MN, USA (A.C.M.)
⁵ Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, USA (P.M.)
⁶ Retina Consultants of Texas, Houston, TX, USA (A.C.S.)

^⁎Inquiries to Peter H. Tang, M.D., Ph.D., VitreoRetinal Surgery, P.L.L.C., 3601 West 76^th Street, Suite 300, Edina, MN 55435; Telephone: 651-361-8100; Fax: 651-361-8101VitreoRetinal Surgery, P.L.L.C.3601 West 76th Street, Suite 300EdinaMN55435

Résumé

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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KEYWORDS : Uveal melanoma, PRAME, BAP1, SF3B1, GNAQ, oculodermal melanocytosis, choroidal melanoma, tumor, cancer, melanoma

Plan

Supplemental Material available at AJO.com.

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Vol 234

P. 1-5 - février 2022 Retour au numéro

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Multiple Genetically Distinct Uveal Melanomas Arise in the Same Eye of Two Patients with Melanosis Oculi - 02/02/22

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