剜除术
GNAQ公司
黑色素瘤
睫状体
医学
葡萄膜
病理
上皮样细胞
突变
癌症研究
生物
免疫组织化学
外科
基因
生物化学
作者
Michelle Prasuhn,Josephine Christin Freitag,Sabine Lüken,Vinodh Kakkassery,Hartmut Merz,Almuth Caliebe,Malte Spielmann,Mahdy Ranjbar,Felix Rommel
标识
DOI:10.3389/fonc.2022.873252
摘要
The molecular mechanisms for uveal ring melanoma are still unclear until today. In this case report, we describe a patient with a malignant uveal melanoma with exudative retinal detachment that had been treated with plaque brachytherapy, resulting in successful tumor regression. After 1 year, a ring-shaped recurrence with extraocular extension appeared, and the eye required enucleation. Histological and molecular genetic analyses revealed an epithelioid-cell-type melanoma with complete circumferential involvement of the ciliary body and, so far, unreported GNAQ and SF3B1 mutations in ring melanoma. Therefore, this report gives new genetic background information on this ocular tumor usually leading to enucleation.
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