Evidence map›Paper›PMID 41465072›Full record

ArticleGenes2025

A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.

Simona Innamorato, Simona L Basso, Omaima Belakhdar, Mirella Bruttini, Chiara Fallerini, Heyran Huseynli, Giulia Caccialupi, Elena Pasquinelli, Mariarosaria Adduci, Giorgio Signori and 12 more

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In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
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0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

22 authors.

Simona InnamoratoMedical Genetics, University of Siena, 53100 Siena, Italy.ORCID 0009-0004-9641-7616
Simona L BassoMedical Genetics, University of Siena, 53100 Siena, Italy.
Omaima BelakhdarMedical Genetics, University of Siena, 53100 Siena, Italy.ORCID 0009-0003-6725-2093
Mirella BruttiniMedical Genetics, University of Siena, 53100 Siena, Italy.
Chiara FalleriniMedical Genetics, University of Siena, 53100 Siena, Italy.ORCID 0000-0002-7386-3224
Heyran HuseynliMedical Genetics, University of Siena, 53100 Siena, Italy.
Giulia CaccialupiMedical Genetics, University of Siena, 53100 Siena, Italy.
Elena PasquinelliMedical Genetics, University of Siena, 53100 Siena, Italy.ORCID 0009-0001-9368-3423
Mariarosaria AdduciMedical Genetics, University of Siena, 53100 Siena, Italy.
Giorgio SignoriMedical Genetics, University of Siena, 53100 Siena, Italy.
Felice ArcuriUnit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Valeria MalagninoUnit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Maria Chiara SicilianoMedical Genetics, University of Siena, 53100 Siena, Italy.
Stefano LazziUnit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.ORCID 0000-0002-2218-3771
Simone PesaresiMedical Genetics, University of Siena, 53100 Siena, Italy.
Daniela GalimbertiUnit of Pediatrics, Department of Maternal, Newborn and Child Health, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Paolo GalluzziUnit of NeuroImaging and NeuroIntervention, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Sonia De FrancescoUnit of Ophthalmology, Department of Medicine, Surgery and Neuroscience, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Theodora HadijstillanouUnit of Ophthalmology, Department of Medicine, Surgery and Neuroscience, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Anna Maria PintoGenetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.ORCID 0000-0001-6259-6901
Alessandra RenieriMedical Genetics, University of Siena, 53100 Siena, Italy.ORCID 0000-0002-0846-9220
Francesca ArianiMedical Genetics, University of Siena, 53100 Siena, Italy.

Funding

ERDERA Diagnostic Research Workstream ERDERALiquid Eye Project - Development of new strategies for saving eye in retinoblastoma relapse I74I18000190002PNRR THE - TUSCANY HEALTH ECOSYSTEM HA PARLATO N. 7 MEDICINA TRASLAZIONALE PER MALATTIE RARE, ONCOLOGICHE E INFETTIVE SPOKE N. 7PROGETTO EU H2020-SC1-FA-DTS-2018-2020, International consortium for integrative genomics prediction - Grant Agreement No. 101016775 101016775PROGETTO GENERA FSC 2014-2020 - Genoma mEdiciNa pERsonalizzatA , - POS-Ministero della Salute T3-AN-04 T3-AN-04PROGETTO PNC-E.3 INNOVA Ecosistema innovativo della Salute - Missione 6 - Componente 2 - Innovazione, ricerca e digitalizzazione del servizio sanitario nazionale - HUB LIFE SCIENCE - Advanced Diagnostic. PNC-E.3PROGETTO PNRR - NEXT GENERATION EU: MISSIONE 4 COMPONENTE 2 (M4C2) - INVESTIMENTO 1.4 - ACRONIMO MNRA - SPOKE 1 NATIONAL CENTER FOR GENE THERAPY AND DRUGS BASED ON RNA TECHNOLOGY M4C2PROGETTO UE SCREEN4CARE - NEWBORN GENETIC SCREENING FOR PREVENTION AND TREATMENT OF RARE GENETIC DISEASES N. PROPOSAL NUMBER 101034427-1 101034427-1
6 · The paper itself

Abstract

backgroundComplex cases of retinoblastoma (RB) often require integrative molecular approaches to define tumor etiology and guide clinical management. PURPOSE: Our aim was to evaluate the usefulness of combining aqueous humor (AH)/plasma cell-free DNA next-generation sequencing (cfDNA-NGS) and long-read-whole-genome sequencing (LR-WGS) to resolve diagnostically challenging RB cases. CASE DESCRIPTION: We report the case of a 3-year-old Caucasian girl, conceived by heterologous assisted reproductive technology (ART), presenting with unilateral, widely infiltrative RB in the right eye. She exhibited limited verbal communication, a glabellar angioma extending to the nasal bridge and philtrum, and mild hypertelorism. Standard blood testing revealed no pathogenic SNVs, CNVs, or methylation abnormalities in the

conclusionsThis experience tells us that a combined approach with TSO500 Illumina NGS on cfDNA, along with LR-WGS, is able to help solve complex cases and define the appropriate treatment and surveillance strategy.

Indexed as

Aqueous HumorCell-Free Nucleic AcidsRetinal NeoplasmsRetinoblastomaRetinoblastoma Binding ProteinsChild, PreschoolFemaleHigh-Throughput Nucleotide SequencingHumansUbiquitin-Protein LigasesWhole Genome SequencingCell-Free Nucleic AcidsRB1 protein, humanRetinoblastoma Binding ProteinsUbiquitin-Protein LigasesbioinformaticscfDNAgenetic diagnosisliquid biopsylong-read–whole-genome sequencingnext-generation sequencingrare genetic diseasessingle-nucleotide variantsstructural variantsvariant interpretation

Identifiers

PMID41465072
PMCPMC12732515

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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.