Abstract
Purpose :
Understanding prognostic risk using next generation sequencing (NGS) will enable precision care of patients with uveal melanoma (UM). This study's aim is to determine the association between three previously described independent driver mutations: eukaryotic translation initiation factor 1A (EIF1AX), splicing factor 3B subunit 1 (SF3B1), and BRCA1-associated protein 1 (BAP1). We present a novel case series of patients with co-occurrence of either EIF1AX, SF3B1, or BAP1, previously thought to be mutually exclusive.
Methods :
Retrospective study of six patients with UM evaluated by a single ocular oncologist between August 2019 and November 2023. Charts were reviewed and data on medical history, demographics, tumor characteristics, genetic testing, follow up, as well as fundus photo and B-scan ocular ultrasound were collected.
Results :
The average age of the patients was 62 years old. Three patients had GNA11 mutations and three had GNAQ mutations. Three patients had a combination of EIF1AX and BAP1 mutations. Two patients had a combination of EIF1AX and SF3B1 mutations. One patient had a combination of SF3B1 and BAP1 mutations. Two patients had germline BAP1 mutations. Four had cytology results of spindle cells and two had results of mixed spindle and epithelioid cells. All patients were treated with I-125 plaque brachytherapy. No metastatic disease has been identified in any of the patients to date.
Conclusions :
We present a case series of patients with the co-occurrence of EIF1AX, SF3B1, or BAP1. With distinct genomic aberrations, transcriptional features, and clinical outcomes, EIF1AX, SF3B1, and BAP1 are thought to be mutually exclusive. The present case series challenges this narrative and speculates on the early development of UM.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.