Evidence map›Paper›PMID 41716777›Full record

ArticleScienceBank2025

The use of aqueous humor cfDNA for low-pass whole genome sequencing as a clinical test to identify intraocular retinoblastoma recurrence.

Douglas Chigane, Drishti Pandya, Brianne Brown, Michelle Lin, Alexander Tseng, Rachana Shah, Rima Jubran, Matthew Snider, Patrick Peng, Muskaan Singh and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in ScienceBank, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
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

14 authors.

Douglas ChiganeThe Vision Center at Children's Hospital Los Angeles, Los Angeles, CA, USA.
Drishti PandyaThe Vision Center at Children's Hospital Los Angeles, Los Angeles, CA, USA.
Brianne BrownThe Vision Center at Children's Hospital Los Angeles, Los Angeles, CA, USA.
Michelle LinThe Vision Center at Children's Hospital Los Angeles, Los Angeles, CA, USA.
Alexander TsengRoski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Rachana ShahDivision of Hematology-Oncology, Cancer and Blood Disease Institute, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Rima JubranDivision of Hematology-Oncology, Cancer and Blood Disease Institute, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Matthew SniderThe Vision Center at Children's Hospital Los Angeles, Los Angeles, CA, USA.
Patrick PengThe Vision Center at Children's Hospital Los Angeles, Los Angeles, CA, USA.
Muskaan SinghThe Vision Center at Children's Hospital Los Angeles, Los Angeles, CA, USA.
Venkata YellapantulaDepartment of Pathology and Laboratory Medicine, Children's Hospital Los Angeles and Keck School of Medicine at University of Southern California, Los Angeles, CA, USA.
Jaclyn A BiegelDepartment of Pathology and Laboratory Medicine, Children's Hospital Los Angeles and Keck School of Medicine at University of Southern California, Los Angeles, CA, USA.
Liya XuThe Vision Center at Children's Hospital Los Angeles, Los Angeles, CA, USA.
Jesse L BerryThe Vision Center at Children's Hospital Los Angeles, Los Angeles, CA, USA.

Funding

Validation of an aqueous humor liquid biopsy for molecular prognostication and monitoring of children with retinoblastoma.R01CA282759 · NCI · CHILDREN'S HOSPITAL OF LOS ANGELES · PI Jesse L Berry · 2023 to 2026
$2.2M
NCI NIH HHS R01 CA282759
6 · The paper itself

Abstract

Objective: Patients with retinoblastoma (RB) require serial examinations under anesthesia (EUA) to assess for response to treatment and disease recurrence. Monitoring for disease recurrence is complicated in patients with loss of fundoscopic view, such as with vitreous hemorrhage (VH) or cataract. Herein, we report a case of a 13-month-old male diagnosed with sporadic bilateral retinoblastoma, wherein the aqueous humor liquid biopsy was used to detect an occult tumor recurrence after 3.5 years of disease stability. Methodology: Case report. Results: A 13-month-old male diagnosed with sporadic bilateral retinoblastoma, International Intraocular Retinoblastoma Classification (IIRC) Group D1 in the right eye and Group E in the left eye, was initially treated with intravenous chemotherapy, intravitreal chemotherapy, and local consolidation. After 3.5 years of disease stability, the patient developed a massive vitreous hemorrhage in the left eye, which precluded a view of the posterior segment. EUA, B-scan ultrasonography, and magnetic resonance imaging (MRI) of the brain and bilateral orbits were inconclusive for recurrence. Aqueous humor liquid biopsy, LBSeq4Kids, is an analytically validated College of American Pathologists / Clinical Laboratory Improvement Amendments (CAP/CLIA) laboratory test available for clinical use at Children's Hospital Los Angeles. Low pass whole-genome sequencing of aqueous humor cell-free DNA (cfDNA) demonstrated the presence of circulating tumor DNA consistent with an active intraocular recurrence. Enucleation of the left eye was performed and the histopathology confirmed active RB recurrence with massive choroidal invasion. Conclusions: Aqueous humor liquid biopsy can be used to guide clinical decision-making in RB, especially when there is a loss of fundus view and intraocular recurrence is suspected.

Indexed as

aqueous humorliquid biopsyretinoblastomavitreous hemorrhage

Identifiers

PMID41716777
PMCPMC12914873

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Registered trials

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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.