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.
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.
Authors: Mary B Daly; Robert Pilarski; Jennifer E Axilbund; Saundra S Buys; Beth Crawford; Susan Friedman; Judy E Garber; Carolyn Horton; Virginia Kaklamani; Catherine Klein; Wendy Kohlmann; Allison Kurian; Jennifer Litton; Lisa Madlensky; P Kelly Marcom; Sofia D Merajver; Kenneth Offit; Tuya Pal; Boris Pasche; Gwen Reiser; Kristen Mahoney Shannon; Elizabeth Swisher; Nicoleta C Voian; Jeffrey N Weitzel; Alison Whelan; Georgia L Wiesner; Mary A Dwyer; Rashmi Kumar Journal: J Natl Compr Canc Netw Date: 2014-09 Impact factor: 11.908
Authors: Robert Pilarski; Randall Burt; Wendy Kohlman; Lana Pho; Kristen M Shannon; Elizabeth Swisher Journal: J Natl Cancer Inst Date: 2013-10-17 Impact factor: 13.506