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

Michelle Prasuhn; Josephine Christin Freitag; Sabine Lüken; Vinodh Kakkassery; Hartmut Merz; Almuth Caliebe; Malte Spielmann; Mahdy Ranjbar; Felix Rommel

doi:10.3389/fonc.2022.873252

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

Front Oncol. 2022 May 25:12:873252. doi: 10.3389/fonc.2022.873252. eCollection 2022.

Authors

Michelle Prasuhn¹, Josephine Christin Freitag¹, Sabine Lüken¹, Vinodh Kakkassery¹, Hartmut Merz², Almuth Caliebe³, Malte Spielmann³, Mahdy Ranjbar¹, Felix Rommel¹

Affiliations

¹ Department of Ophthalmology, University Hospital Schleswig-Holstein, University of Lübeck, Lübeck, Germany.
² Hämatopathologie Lübeck, Reference Centre for Lymph Node Pathology andHematopathology, Lübeck, Germany.
³ Institute of Human Genetics, University Hospital of Schleswig-Holstein, University of Lübeck, Lübeck, Germany.

Abstract

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.

Keywords: GNAQ; SF3B1; brachytherapy; case report; ring melanoma; uveal melanoma.

Publication types

Case Reports