Abstract 4262: Genomic profiling of uveal melanoma patients using the GENIE database

Abstract

Abstract Uveal melanoma (UM) is the most common primary adult intraocular tumor. Frequently mutated genes in UM include BAP1, EIF1AX, GNA11, GNAQ CHEK2, and SF3B1. This study aims to investigate the genomic characteristics of UM patients using a large cohort of clinicogenomic data. We assessed the frequency of genetic mutations in UM patients obtained from the AACR Project Genomics Evidence Neoplasia Information Exchange (GENIE) cohort v12.1. We excluded patients with samples from a local recurrence, not otherwise specified tumor samples, and data not collected for sampling localization from our cohort. A total of 296 UM patients were included in this study, 164 (55.4%) of which were male and 131 (44.6%) were female. The sample mean age was 59.5 (SD: 14.1), and most patients were of white ethnicity (83.8%). Of 243 patients with known vital status, 32.1% (n = 78) of them were alive, while 67.9% (n = 165) of them were deceased. Sequencing samples were collected from the primary tumor in 141 patients, and from a metastatic nodule in 146 patients. We found that GNAQ and GNA11 were mutated in 43.9% and 43.6% of patients, respectively. BAP1 was mutated in 35.1%, SF3B1 in 22.3%, and EIF1AX in 13.2% of patients. No patients had GNAQ and GNA11 mutations concurrently. All patients had a median mutation count of 3, with no differences between the two genders. No significant differences were found in the frequency of mutations in regard to gender. GNAQ and GNA11 mutations were identified to be the most frequent mutations among UM patients, with a mutual exclusivity relationship between the two genes. New therapeutic modalities should consider the comprehensive genomic profiling of UM patients to improve their overall survival rate and quality of life. Citation Format: Shaden Tashtoush, Ashaar Al-Akhras, Alina Ghazou, Sebawe Syaj. Genomic profiling of uveal melanoma patients using the GENIE database. [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 4262.