Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma

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...

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書目詳細資料
發表在:Frontiers in Oncology
Main Authors: Michelle Prasuhn, Josephine Christin Freitag, Sabine Lüken, Vinodh Kakkassery, Hartmut Merz, Almuth Caliebe, Malte Spielmann, Mahdy Ranjbar, Felix Rommel
格式: Article
語言:英语
出版: Frontiers Media S.A. 2022-05-01
主題:
在線閱讀:https://www.frontiersin.org/articles/10.3389/fonc.2022.873252/full
實物特徵
總結: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.
ISSN:2234-943X