DeParis Sarah W, Bloomer Michele, Han Ying, Vagefi M Reza, Shieh Joseph T C, Solomon David A, Grenert James, de Alba Campomanes Alejandra G
Department of Ophthalmology, University of California, San Francisco, CA, USA.
Department of Pediatrics, University of California, San Francisco, CA, USA.
Ocul Oncol Pathol. 2017 Jul;3(2):122-128. doi: 10.1159/000450552. Epub 2016 Nov 22.
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.
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.
A germline nonsense mutation in the 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.
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.
葡萄膜神经节瘤是一种罕见肿瘤，通常与1型神经纤维瘤病相关。在此，我们报告一例罕见的葡萄膜神经节瘤病例，该病例导致了肿瘤易感性疾病考登综合征的诊断。
一名5岁女孩因弥漫性虹膜和脉络膜增厚继发单侧难治性青光眼，患眼失明且疼痛。遂行眼球摘除术，组织病理学检查显示整个葡萄膜被含有混合神经节细胞的肿瘤性梭形细胞浸润，诊断为葡萄膜神经节瘤。对肿瘤组织和外周血进行了510个癌症相关基因的靶向二代测序。
在该基因中发现了一个种系无义突变，同时肿瘤出现杂合性缺失。诊断为考登综合征，患者家属为此寻求遗传咨询并开始了推荐的癌症筛查。
发现葡萄膜神经节瘤与考登综合征之间存在新的关联，强调了基因组织检测在罕见眼部肿瘤患者管理中的价值。
