ABSTRACT
Background
Intraocular, ciliary body, medulloepithelioma (CBME) is a rare tumor of the nonpigmented ciliary body epithelium, typically presenting in childhood. We describe a case of CBME.
Materials and Methods
Ocular examination and imaging guided diagnostic and treatment decisions. Aqueous humor (AH) liquid biopsy was collected from the affected eye at eventual enucleation. Whole genome sequencing (WGS) was employed to determine somatic copy number alterations (SCNA) in AH cell-free DNA (cfDNA). Tumor sample was analyzed using various assays to evaluate for oncogenic mutations and SCNAs. Histopathology determined diagnosis.
Results
A 5-year-old male with glaucoma and cataract in the left eye (OS) experienced worsening left eye pain and redness. There was no light perception OS and the eye was hypotonus. Anterior segment exam showed complete cataract and rubeosis iridis. Ocular B-scan ultrasound OS revealed an intraocular lesion with calcifications and retinal detachment. Orbital MRI suggested left globe hypercellularity. An infiltrative lesion involving the ciliary body was seen in the left eye on examination under anesthesia. Left eye enucleation was performed in the setting of pain, blindness, and tumor, with anterior chamber paracentesis for AH liquid biopsy collection. SCNA profile of AH cfDNA demonstrated loss of copy of chromosomes 4, 6, and 9. Tumor was negative for clinically significant mutations or SCNAs. Histopathology diagnosed malignant teratoid CBME.
Conclusions
We present a case of CBME and include the unique SCNA profile of AH cfDNA from the enucleated eye. This case suggests utility of AH liquid biopsy in distinguishing between differential diagnoses for intraocular mass lesions.
Acknowledgments
Dr. Berry has grant support not directly related to the scope of this report from: National Cancer Institute of the National Institute of Health Award Number K08CA232344, The Wright Foundation, Children’s Oncology Group/St. Baldrick’s Foundation, The Knights Templar Eye Foundation, Hyundai Hope on Wheels, Childhood Eye Cancer Trust, and Children’s Cancer Research Fund. Other research support comes from The Berle & Lucy Adams Chair in Cancer Research, The Larry and Celia Moh Foundation, The Institute for Families, Inc., The A. Linn Murphree, MD, Chair in Ocular Oncology, Children’s Hospital Los Angeles, An unrestricted departmental grant from Research to Prevent Blindness, and The National Cancer Institute P30CA014089. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.
Disclosure statement
Drs. Berry and Xu have filed a provisional patent application entitled Aqueous Humor Cell-Free DNA for Diagnostic and Prognostic Evaluation of Ophthalmic Disease 62/654,160 (Berry, Xu, Hicks).