Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma

Wojtek Drabarek, Job van Riet, Josephine Q N Nguyen, Kyra N Smit, Natasha M van Poppelen, Rick Jansen, Eva Medico-Salsench, Jolanda Vaarwater, Frank J Magielsen, Tom Brands, Bert Eussen, Thierry P P van den Bosch, Robert M Verdijk, Nicole C Naus, Dion Paridaens, Annelies de Klein, Erwin Brosens, Harmen J G van de Werken, Emine Kilic, Rotterdam Ocular Melanoma Study Group

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Approximately 25% of all uveal melanoma (UM) contain driver mutations in the gene encoding the spliceosome factor SF3B1, and whilst patients with such SF3B1 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 SF3B1-mutated (SF3B1mut) UM patients. We collected 146 SF3B1mut UM from our Rotterdam Ocular Melanoma Studygroup (ROMS) database and external published datasets. After stratification of all SF3B1mut 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 SF3B1mut group vs. the long PFS group (mean: 14.7 (±3.7 SD, p = 0.001). Combined ROMS and The Cancer Genome Atlas (TCGA) transcriptomic data were evaluated, and we identified SF3B1mut-specific canonical transcripts (e.g., a low expression of ABHD6 indicative for early-onset metastatic disease) or distinct expression of SF3B1mut UM aberrant transcripts, indicative of early- or late-onset or no metastatic SF3B1mut UM.

Originele taal-2Engels
Pagina's (van-tot)846
Nummer van het tijdschrift3
StatusGepubliceerd - 8 feb. 2022


  • Aberrant splicing
  • Early metastasis
  • RNA-seq
  • SF3B1 mutation
  • Uveal melanoma


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