Co-occurrence of EIF1AX, SF3B1, or BAP1 variants in uveal melanomas: A case series and review
We present a case series of patients with the co-occurrence of <i>EIF1AX</i>, <i>SF3B1</i>, or <i>BAP1</i>. With distinct genomic aberrations, transcriptional features, and clinical outcomes, <i>EIF1AX</i>, <i>SF3B1</i>, and <i>BAP1</i> are thought to be mutually exclusive. The present case series demonstrates rare exceptions to this general pattern and speculates on the early molecular steps of UM which may lead to these rare mutation combinations.
Authors
- Amy C Schefler (ORCID: https://orcid.org/0000-0001-9829-8164)
- Henry C. Skrehot (ORCID: https://orcid.org/0000-0003-4733-4131)
- Amer F. Alsoudi (ORCID: https://orcid.org/0000-0002-2492-1993)
Institutions
- Baylor College of Medicine (US)
- Retina Consultants of Texas (US)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2025-04-09
- DOI
- https://doi.org/10.1016/j.ajoc.2025.102327
- Citations
- 1
- Primary Topic
- Ocular Oncology and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.71