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

*Korrespondierende/r Autor/-in für diese Arbeit


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.

ZeitschriftFrontiers in Oncology
PublikationsstatusVeröffentlicht - 25.05.2022

Strategische Forschungsbereiche und Zentren

  • Querschnittsbereich: Medizinische Genetik
  • Profilbereich: Lübeck Integrated Oncology Network (LION)
  • Zentren: Universitäres Cancer Center Schleswig-Holstein (UCCSH)