Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma.

Approximately 25% of all uveal melanoma (UM) contain driver mutations in the gene encoding the spliceosome factor , and whilst patients with such mutations generally have an intermediate risk on developing metastatic disease, a third of these patients develop early metastasis within 5 years after diagnosis. We therefore investigated whether clinical and/or genetic variables could be indicative of short progression-free survival (PFS < 60 months) or long PFS (PFS ≥ 60 months) for -mutated () UM patients. We collected 146 UM from our Rotterdam Ocular Melanoma Studygroup (ROMS) database and external published datasets. After stratification of all UM using short PFS vs. long PFS, only largest tumor diameter (LTD) was significantly larger (mean: 17.7 mm (±2.8 SD) in the short PFS group vs. the long PFS group (mean: 14.7 (±3.7 SD, = 0.001). Combined ROMS and The Cancer Genome Atlas (TCGA) transcriptomic data were evaluated, and we identified -specific canonical transcripts (e.g., a low expression of indicative for early-onset metastatic disease) or distinct expression of UM aberrant transcripts, indicative of early- or late-onset or no metastatic UM.