Genomic Profiling of Intraocular Leiomyomas Reveals Recurrent Copy Number Alterations.

ABSTRACT:

Purpose

Leiomyomas are benign smooth muscle tumors that commonly present in the uterus, soft tissue, skin, and gastrointestinal tract but in rare cases can also arise within the eye. Notably, intraocular leiomyomas often show slightly different histopathologic and immunohistochemical features, referred to as mesectodermal morphology, given their presumed neural crest origin. Genetic and cytogenetic alterations of intraocular leiomyomas, as well as their association with various clinical and histopathologic features, have not been previously studied.

Methods

We identified eight patients diagnosed with intraocular leiomyoma and performed targeted next-generation sequencing, whole transcriptome RNA sequencing, and chromosomal copy number analysis on those with sufficient residu

SUBMITTER: Tang V 

PROVIDER: S-EPMC12636993 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature