Natasha M van Poppelen, Nathalie Cassoux, Joni A Turunen, Nicole C Naus, Robert M Verdijk, Jolanda Vaarwater, Victoria Cohen, Vasilios P Papastefanou, Hayyam Kiratli, Svetlana V Saakyan, Alexander Y Tsygankov, Iwona Rospond-Kubiak, Hardeep S Mudhar, Sachin M Salvi, Jens F Kiilgaard, Steffen Heegaard, Alexandre P Moulin, Maria A Saornil, Ciro Garciá-Alvarez, Maria Fili, Nils A Eide, Peter Meyer, Tero T Kivelä, Annelies de Klein, Emine Kilic, Rana'a T Al-Jamal
PURPOSE: To explore the genetic background of choroidal and ciliary body melanoma among children and young adults, with special focus on BAP1 germline variants in this age group. METHODS: Patients under the age of 25 and with confirmed choroidal or ciliary body melanoma were included in this retrospective, multicenter observational study. Nuclear BAP1 immunopositivity was used to evaluate the presence of functional BAP1 in the tumor. Next-generation sequencing using Ion Torrent platform was used to determine pathogenic variants of BAP1, EIF1AX, SF3B1, GNAQ and GNA11 and chromosome 3 status in the tumor or in DNA extracted from blood or saliva...
April 1, 2024: Investigative Ophthalmology & Visual Science