Wagley Sushant, Belin Peter J, Dollar James J, Harbour J William, Maltry Amanda C, Mruthyunjaya Prithvi, Schefler Amy C, Tang Peter H
VitreoRetinal Surgery, P.L.L.C., Minneapolis, MN, USA (S.W., P.J.B., P.H.T.).
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.).
Am J Ophthalmol. 2022 Feb;234:1-5. doi: 10.1016/j.ajo.2021.06.037. Epub 2021 Jul 18.
To determine whether unilateral multifocal uveal melanomas (UM) in the setting of ocular melanosis (melanosis oculi) represent genetically independent tumors.
Clinical case series.
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.
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.
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.
确定眼部黑变病（眼黑变病）背景下的单侧多灶性葡萄膜黑色素瘤（UM）是否代表基因独立的肿瘤。
临床病例系列。
纳入两名眼黑变病背景下的单侧多灶性UM患者。对肿瘤进行基因表达谱（GEP）评估和葡萄膜黑色素瘤相关突变的二代测序（NGS）。如有可用的眼球摘除标本，也进行组织病理学分析。
两名患者均为女性，年龄分别为73岁和83岁。在患者1中，两个肿瘤均表现为2类GEP，但每个肿瘤都有独特的BAP1突变。在患者2中，一个肿瘤为1类，携带SF3B1突变，而另一个肿瘤为2类，携带BAP1突变。
眼黑变病背景下的单侧多灶性UM可能是由于基因独立的原发性肿瘤发展而来，这可以根据每个肿瘤的突变谱检测到。这是关于单侧多灶性UM背景下基因确诊的独立原发性肿瘤的首次报告。
