Evidence map›Paper›PMID 36342106›Full record

ArticleOphthalmic genetics2022

Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma.

Shreya Sirivolu, Liya Xu, Mikako Warren, Rishvanth K Prabakar, Rachana Shah, Peter Kuhn, James Hicks, Jesse L Berry

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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.4field-weighted citation impact, top 20% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Blood-Based Cell-Free DNA in Ophthalmic Oncology.Translational vision science & technology · 2025
    Review
  2. Article
  3. Review
  4. 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

8 authors at 5 institutions in 1 country.

Shreya SirivoluThe Vision Center at Children's Hospital Los Angeles, Los Angeles, Califorina, USA.
Liya XuThe Vision Center at Children's Hospital Los Angeles, Los Angeles, Califorina, USA.
Mikako WarrenDepartment of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.
Rishvanth K PrabakarDepartment of Molecular and Computational Biology, University of Southern California, Los Angeles, California, USA.
Rachana ShahCancer and Blood Disease Institute at Children's Hospital Los Angeles, Los Angeles, California, USA.
Peter KuhnDepartment of Biological Sciences, Dornsife College of Letters, Arts, and Sciences, University of Southern California, Los Angeles, Califorina, USA.
James HicksDepartment of Biological Sciences, Dornsife College of Letters, Arts, and Sciences, University of Southern California, Los Angeles, Califorina, USA.
Jesse L BerryThe Vision Center at Children's Hospital Los Angeles, Los Angeles, Califorina, USA.
University of Southern California · USSouthern California Eye Institute · USCenter for Cancer and Blood Disorders · USChildren's Hospital of Los Angeles · USSouthern California University for Professional Studies · US

Funding

USC/NORRIS COMPREHENSIVE CANCER CENTER (CORE) SUPPORTP30CA014089 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Fumito Ito · 1985 to 2026
$181.4M
Ophthalmic Therapeutics Engineering CoreP30EY029220 · NEI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Mahnaz Shahidi · 2018 to 2026
$6.5M
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 CA014089NEI NIH HHS P30 EY029220
6 · The paper itself

Abstract

backgroundIn patients with retinoblastoma, gains of chromosome 6p have been associated with less differentiated tumors. In cell-free DNA from the aqueous humor (AH), 6p gain has been associated with an increased risk of enucleation. While the identification of somatic copy number alterations (SCNAs) via the AH has been well established, these alterations are not routinely identified in the blood due to low tumor fraction. MATERIALS AND

methodsSCNAs were considered positive at 20% deflection from the baseline. Somatic RB1 pathogenic variants were identified with targeted sequencing using a panel including all RB1 exons.

resultsA 24-month-old patient presented with unilateral retinoblastoma (Group D/AJCC Stage cT2B) and was treated with primary enucleation. In the peripheral blood, a heterozygous mutation (c.3920T>A) in the APC gene was reported. Genomic analysis of the tumor and AH revealed two novel somatic RB1 mutations (c.1589_1590del and c.2330dupC). Both also demonstrated highly recurrent RB-related SCNAs. Chromosome 6p gain was detected in the blood with an amplitude suggesting approximately 12% tumor fraction. At a follow-up of 24 months, there has been no evidence of metastatic disease.

conclusionsTo our knowledge, this is the first time an SCNA has been detected in the blood of an RB patient, suggesting in some advanced eyes there may be a high enough tumor fraction to detect these alterations (>5% needed). It remains unclear whether 6p gain or increased tumor fraction in the blood is indicative of increased risk of metastatic disease or new primary cancer; studies to address this are ongoing.

Indexed as

Cell-Free Nucleic AcidsRetinal NeoplasmsRetinoblastomaChild, PreschoolChromosome AberrationsChromosome DuplicationChromosomesGenes, RetinoblastomaHumansMutationCell-Free Nucleic Acidsaqueous humorbloodliquid biopsyRetinoblastomasomatic copy number alterations

Identifiers

PMID36342106
PMCPMC9877166
OpenAlexW4308365788

What OpenQuestion holds

Textmetadata
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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.