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Genomic Profiling of Intraocular Leiomyomas Reveals Recurrent Copy Number Alterations.
Vivian Tang1, Yubai Chou2, Cuyan Demirkesen3
1Department of Pathology, University of California, San Francisco, San Francisco, CA, USA.
Translational Vision Science & Technology
|November 18, 2025
Summary
Intraocular leiomyomas exhibit unique genetic changes, including widespread chromosome losses, distinguishing them from other leiomyomas. These chromosomal alterations, rather than gene mutations, may be key diagnostic markers.
Area of Science:
- Ophthalmology
- Oncology
- Genetics
Background:
- Intraocular leiomyomas are rare benign smooth muscle tumors originating in the eye.
- They can exhibit distinct histopathologic features, termed mesectodermal morphology, suggesting a neural crest origin.
- Previous studies have not investigated the genetic and cytogenetic alterations in intraocular leiomyomas.
Purpose of the Study:
- To investigate the genetic and cytogenetic alterations in intraocular leiomyomas.
- To compare these alterations with those found in uterine and deep soft tissue leiomyomas, as well as uveal melanocytic tumors.
Main Methods:
- Eight patients with intraocular leiomyoma were identified.
- Targeted next-generation sequencing, whole transcriptome RNA sequencing, and chromosomal copy number analysis were performed.
Main Results:
- Copy number analysis revealed recurrent whole-chromosome losses (e.g., chromosomes 1, 2, 3, 10, 15q, 22q), indicating near haploidization.
- No pathogenic single-nucleotide variants, deep deletions, amplifications, structural rearrangements, or gene fusions were detected.
- No significant differences in copy number profiles were observed between mesenchymal and mesectodermal morphologies or based on the presence of worrisome histologic features.
Conclusions:
- Intraocular leiomyomas possess distinct genetic and cytogenetic profiles compared to leiomyomas from other sites and uveal melanocytic tumors.
- Recurrent whole-chromosome losses are a common feature of intraocular leiomyomas, even without detectable mutations or fusions.
- These chromosomal losses may serve as diagnostic aids for intraocular leiomyomas.
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