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Updated: Sep 26, 2026

Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis
Published on: September 7, 2021
Do children with optic pathway tumors have an increased frequency of other central nervous system tumors?
David N Korones1, Jeannie Padowski, Brad A Factor
1University of Rochester School of Medicine and Dentistry, NY 14642, USA. david_korones@urmc.rochester.edu
Abstract:
We questioned whether children with optic pathway tumors (OPTs) have an increased frequency of other CNS tumors on the basis of experience with a number of such children treated at our institution. The medical records of all patients with OPTs treated at Golisano Children's Hospital at Strong at the University of Rochester from 1957 to 2000 were reviewed to determine the incidence of additional CNS tumors in these children and whether the occurrence of these other CNS tumors is associated with any risk factors. Twenty-six children had OPTs. Twelve of the 26 children had biopsy-proved tumors; the remaining 14 were diagnosed on the basis of CT or MRI scans. Eight of the 26 patients (31%) had a total of 11 additional CNS tumors. (One child had 2 additional CNS neoplasms, and a second child had 3.) Nine were biopsy proved (3 glioblastoma, 3 anaplastic astrocytoma, 3 low-grade astrocytoma), and 2 were diagnosed by imaging studies alone (acoustic neuromas). Eight of the 11 tumors occurred at a median of 5 years (0.8-25 years) subsequent to the diagnosis of the OPTs; 3 were diagnosed simultaneously with the OPT. Of the 17 children with neurofibromatosis (NF) and OPTs, 8 (47%) had additional CNS tumors, while none of the 9 children (0%) without NF had other CNS tumors (P = 0.023). There was no association between radiation treatment of the primary OPT and subsequent development of other CNS tumors in the group as a whole, or when the analysis was confined to children with NF. Despite this lack of statistical association, all 7 CNS tumors that occurred following radiation arose in irradiated areas. The risk of simultaneous or subsequent CNS tumors in children with NF and OPTs is high. These children should be closely monitored for the simultaneous or subsequent occurrence of other CNS tumors.
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