Abstract
Purpose: Uveal ganglioneuroma is a rare tumor that usually occurs in association with neurofibromatosis type 1. Here, we present a rare case of a uveal ganglioneuroma leading to a diagnosis of the tumor predisposition condition Cowden syndrome. Procedures: A 5-year-old girl with unilateral refractory glaucoma secondary to diffuse iris and choroidal thickening developed a blind, painful eye. Enucleation was performed, and histopathology revealed infiltration of the entire uveal tract by neoplastic spindle cells containing admixed ganglion cells diagnostic of uveal ganglioneuroma. Targeted next-generation sequencing of 510 cancer-associated genes was performed on tumor tissue and peripheral blood. Results: A germline nonsense mutation in the PTEN gene was found, accompanied by loss of heterozygosity in the tumor. A diagnosis of Cowden syndrome was made, for which the family sought genetic counseling and initiated the recommended cancer screening. Conclusions: A novel association is found between uveal ganglioneuroma and Cowden syndrome, emphasizing the value of genetic tissue testing in managing patients with rare ocular tumors.
Original language | English (US) |
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Pages (from-to) | 122-128 |
Number of pages | 7 |
Journal | Ocular Oncology and Pathology |
Volume | 3 |
Issue number | 2 |
DOIs | |
State | Published - Jul 1 2017 |
Keywords
- Cowden syndrome
- Ocular oncology
- PTEN mutation
- Uveal ganglioneuroma
ASJC Scopus subject areas
- General Nursing