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Ophthalmic Genetics Volume 43, 2022 - Issue 6: Special Issue: Festschrift: Dedicated to the life and work of A. Linn Murphree, MD
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Case Report

Malignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA

Sarah Pikea The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USAORCID Iconhttps://orcid.org/0000-0003-1154-7629View further author information
ORCID Icon,
Rahul Iyengara The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USAORCID Iconhttps://orcid.org/0000-0002-1178-1717View further author information
ORCID Icon,
Chen-Ching Penga The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USAORCID Iconhttps://orcid.org/0000-0002-2703-1275View further author information
ORCID Icon,
Patricia Chevez-Barriosc Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX, USAView further author information
,
Brianne Browna The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USAView further author information
,
Rachana Shahd Cancer and Blood Disease Institute Retinoblastoma Program, Children’s Hospital Los Angeles, Los Angeles, CA, USAView further author information
,
Jaclyn Biegele Center for Personalized Medicine, Children’s Hospital Los Angeles, Los Angeles, CA, USAView further author information
,
Venkata Yellapantulae Center for Personalized Medicine, Children’s Hospital Los Angeles, Los Angeles, CA, USAView further author information
,
Aaron Nagiela The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA;f The Saban Research Institute, Children’s Hospital Los Angeles, Los Angeles, CA, USAORCID Iconhttps://orcid.org/0000-0001-7275-6980View further author information
ORCID Icon,
Bibiana Jin Reisera The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA;f The Saban Research Institute, Children’s Hospital Los Angeles, Los Angeles, CA, USAView further author information
,
Liya Xua The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USAORCID Iconhttps://orcid.org/0000-0002-5501-2039View further author information
ORCID Icon &
Jesse L. Berrya The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA;f The Saban Research Institute, Children’s Hospital Los Angeles, Los Angeles, CA, USA;g Norris Comprehensive Cancer Center, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USACorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-8907-9100View further author information
ORCID Icon show all
Pages 855-861 | Received 04 Oct 2022, Accepted 14 Oct 2022, Published online: 31 Oct 2022
 
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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).

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.

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