Evidence map›Paper›PMID 36314385›Full record

ArticleOphthalmic genetics2022

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 Pike, Rahul Iyengar, Chen-Ching Peng, Patricia Chevez-Barrios, Brianne Brown, Rachana Shah, Jaclyn Biegel, Venkata Yellapantula, Aaron Nagiel, Bibiana Jin Reiser and 2 more

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Ophthalmic genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.2field-weighted citation impact, top 22% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 3 institutions in 1 country.

Sarah PikeThe Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, USA.ORCID 0000-0003-1154-7629
Rahul IyengarThe Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-1178-1717
Chen-Ching PengThe Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-2703-1275
Patricia Chevez-BarriosDepartment of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX, USA.
Brianne BrownThe Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Rachana ShahCancer and Blood Disease Institute Retinoblastoma Program, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Jaclyn BiegelCenter for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Venkata YellapantulaCenter for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Aaron NagielThe Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, USA.ORCID 0000-0001-7275-6980
Bibiana Jin ReiserThe Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Liya XuThe Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-5501-2039
Jesse L BerryThe Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-8907-9100
University of Southern California · USChildren's Hospital of Los Angeles · USMethodist Hospital · US

Funding

USC/NORRIS COMPREHENSIVE CANCER CENTER (CORE) SUPPORTP30CA014089 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI William Dean Wallace · 1985 to 2026
$181.4M
Development of a surrogate liquid biopsy from the aqueous humor in retinoblastoma eyes.K08CA232344 · NCI · CHILDREN'S HOSPITAL OF LOS ANGELES · PI BERRY, JESSE L · 2018 to 2022
$1.1M
NCI NIH HHS K08 CA232344NCI NIH HHS P30 CA014089
6 · The paper itself

Abstract

backgroundIntraocular, 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

methodsOcular 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.

resultsA 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.

conclusionsWe 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.

Indexed as

CataractCell-Free Nucleic AcidsNeuroectodermal Tumors, PrimitiveUveal NeoplasmsAqueous HumorChild, PreschoolCiliary BodyDNA Copy Number VariationsHumansMaleCell-Free Nucleic Acidsaqueous humor liquid biopsyintraocular ciliary body medulloepitheliomaMalignant teratoid medulloepitheliomasomatic copy number alteration profile

Identifiers

PMID36314385
PMCPMC9877122
OpenAlexW4307889865

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.