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

Autor: Wagley S; VitreoRetinal Surgery, P.L.L.C., Minneapolis, MN, USA (S.W., P.J.B., P.H.T.)., Belin PJ; VitreoRetinal Surgery, P.L.L.C., Minneapolis, MN, USA (S.W., P.J.B., P.H.T.)., Dollar JJ; 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.)., Harbour JW; 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.)., Maltry AC; Department of Ophthalmology & Visual Neurosciences, University of Minnesota School of Medicine, Minneapolis, MN, USA (A.C.M., P.H.T.); Department of Laboratory Medicine and Pathology, University of Minnesota School of Medicine, Minneapolis, MN, USA (A.C.M.)., Mruthyunjaya P; Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, USA (P.M.)., Schefler AC; Retina Consultants of Texas, Houston, TX, USA (A.C.S.)., Tang PH; VitreoRetinal Surgery, P.L.L.C., Minneapolis, MN, USA (S.W., P.J.B., P.H.T.); Department of Ophthalmology & Visual Neurosciences, University of Minnesota School of Medicine, Minneapolis, MN, USA (A.C.M., P.H.T.). Electronic address: peter.tang.mdphd@gmail.com.
Jazyk: angličtina
Zdroj: American journal of ophthalmology [Am J Ophthalmol] 2022 Feb; Vol. 234, pp. 1-5. Date of Electronic Publication: 2021 Jul 18.
DOI: 10.1016/j.ajo.2021.06.037
Abstrakt: 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.
(Copyright © 2021 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: