ArticleNature communications2021
A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.
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Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
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76citing papers in PubMed, 2 pooled it
14.2field-weighted citation impact, top 1% of its field
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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.
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Who cites it
76 citing papers in PubMed, 2 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- The role of Trefoil Family Factor 1 (TFF1) as a potential marker for retinoblastoma: a systematic review and meta-analysis.BMC ophthalmology · 2026Pooled it
- Practical guidelines on imaging of retinoblastoma: a 2025 update on behalf of the European Retinoblastoma Imaging Collaboration and the European Retinoblastoma Group.European radiology · 2026Guideline
- Eye Salvage and Vision Preservation in High-Risk Intraocular Retinoblastoma Patients: Long-Term Results From the Prospective Phase II AIEOP RTB 012 Study.Cancer medicine · 2025Trial
- Targeting MYCN Degradation by HLB-0532259 Induces Senescence in Retinoblastoma.Investigative ophthalmology & visual science · 2026Article
- Epigenetic Factor Dysregulation and Distinct Expression Signatures in Retinoblastoma: A Transcriptomic Analysis.Investigative ophthalmology & visual science · 2026Article
- Definition of parameters and thresholds to detect MYCN amplification in retinoblastomas.Virchows Archiv : an international journal of pathology · 2026Article
- Integrating spatial and single-cell transcriptomics analysis reveals MYCN-UBE2C-TFRC signaling endows ferroptosis resistance in neuroectodermal tumors.Science China. Life sciences · 2026Article
- Management of Retinoblastoma: A Challenge in Pediatric Ophthalmology.Life (Basel, Switzerland) · 2026Review
- Retinal organoid screening reveals ABT-737 and luminespib as potential agents against a cone- precursor-derived subtype of retinoblastoma.Molecular therapy. Oncology · 2026Article
- Retinoblastoma: unveiling molecular pathogenesis and pioneering organoid-driven therapeutic innovations.Stem cell research & therapy · 2026Review
- Safety Assessment of Aqueous Humor Liquid Biopsy in Retinoblastoma: A Multicenter Study of 1203 Procedures.Ophthalmology · 2026Article
- The role of SALL1-MGST1 axis-mediated ferroptosis inhibition in chemoresistance of retinoblastoma.PloS one · 2026Article
- Targeting MCM6 Enhances Melphalan Chemosensitivity in Retinoblastoma by Modulating DNA Damage Response.Investigative ophthalmology & visual science · 2025Article
- Diffuse infiltrating retinoblastoma: a multicentre, international, data-sharing study.The British journal of ophthalmology · 2025Article
- Comprehensive analysis of single-cell and bulk RNA sequencing uncover tumor microenvironment diversity in invasive Retinoblastoma.Scientific reports · 2025Article
- BCOR loss promotes both retinoblastoma growth and susceptibility to IGF1R inhibition.Neuro-oncology · 2025Article
- Human Retinal Organoid Modeling Defines Developmental Window and Therapeutic Vulnerabilities in MYCN-Amplified Retinoblastoma.International journal of molecular sciences · 2025Article
- Spatial transcriptomics of retinoblastoma: a visual window on intra-patient heterogeneity.BMC cancer · 2025Article
- Global research landscape of retinoblastoma biomarkers: a multidisciplinary bibliometric analysis based on multiple databases (2005-2025).Journal of cancer research and clinical oncology · 2025Article
- Aqueous Humor Liquid Biopsy Identifies Murine Double Minute 4 Segmental Gain in Retinoblastoma: Implications for Chemotherapy Response and Precision Oncology.JCO precision oncology · 2025Article
16 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
60 authors at 11 institutions in 3 countries.
Jing Liu *Institut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.ORCID http://orcid.org/0000-0002-8290-3494
Daniela Ottaviani *Institut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.ORCID http://orcid.org/0000-0001-6573-162X
Meriem Sefta *Institut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.
Céline DesbroussesInstitut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.ORCID http://orcid.org/0000-0003-1664-5148
Elodie ChapeaublancInstitut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.ORCID http://orcid.org/0000-0002-9668-7753
Rosario AscheroPathology Service, Hospital J.P. Garrahan, Buenos Aires, Argentina.ORCID http://orcid.org/0000-0001-5971-3417
Nanor SirabInstitut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.ORCID http://orcid.org/0000-0003-4799-2425
Fabiana LubienieckiPathology Service, Hospital J.P. Garrahan, Buenos Aires, Argentina.
Gabriela LamasPathology Service, Hospital J.P. Garrahan, Buenos Aires, Argentina.
Laurie TononSynergie Lyon Cancer, Plateforme de Bioinformatique "Gilles Thomas", Centre Léon Bérard, 69008, Lyon, France.
Catherine DehainaultDépartement de Biologie des Tumeurs, Institut Curie, 75005, Paris, France.
Clément HuaInstitut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.ORCID http://orcid.org/0000-0003-0745-960X
Paul FréneauxDépartement de Biologie des Tumeurs, Institut Curie, 75005, Paris, France.
Sacha ReichmanInstitut de la Vision, Sorbonne Université, INSERM, CNRS, 75012, Paris, France.ORCID http://orcid.org/0000-0003-1776-6339
Narjesse KarboulInstitut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.
Anne BitonInstitut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.ORCID http://orcid.org/0000-0002-3814-4195
Liliana Mirabal-OrtegaInstitut Curie, CNRS, UMR3347, PSL Research University, 91405, Orsay, France.ORCID http://orcid.org/0000-0001-8464-867X
Magalie LarcherInstitut Curie, CNRS, UMR3347, PSL Research University, 91405, Orsay, France.
Céline BrulardInstitut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.
Sandrine ArrufatDépartement de Biologie des Tumeurs, Institut Curie, 75005, Paris, France.
André NicolasDépartement de Biologie des Tumeurs, Institut Curie, 75005, Paris, France.
Nabila ElarouciProgramme Cartes d'Identité des Tumeurs, Ligue Nationale Contre le Cancer, 75013, Paris, France.
Tatiana PopovaInstitut Curie, PSL Research University, INSERM U830, 75005, Paris, France.
Fariba NématiDépartement de Recherche Translationnelle, Institut Curie, 75005, Paris, France.ORCID http://orcid.org/0000-0001-8879-7592
Didier DecaudinDépartement de Recherche Translationnelle, Institut Curie, 75005, Paris, France.
David GentienDépartement de Recherche Translationnelle, Institut Curie, 75005, Paris, France.
Sylvain BaulandeInstitut Curie, PSL Research University, NGS Platform, 75005, Paris, France.ORCID http://orcid.org/0000-0003-3104-1684
Odette MarianiDépartement de Biologie des Tumeurs, Institut Curie, 75005, Paris, France.
Florent DufourInstitut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.ORCID http://orcid.org/0000-0003-2671-5576
Sylvain GuibertGeCo Genomics Consulting, Integragen, 91000, Evry, France.
Céline VallotGeCo Genomics Consulting, Integragen, 91000, Evry, France.ORCID http://orcid.org/0000-0003-1601-2359
Livia Lumbroso-Le RouicDépartement de Chirurgie, Service d'Ophtalmologie, Institut Curie, 75005, Paris, France.
Alexandre MatetDépartement de Chirurgie, Service d'Ophtalmologie, Institut Curie, 75005, Paris, France.ORCID http://orcid.org/0000-0002-9721-777X
Laurence DesjardinsDépartement de Chirurgie, Service d'Ophtalmologie, Institut Curie, 75005, Paris, France.
Guillem Pascual-PastoInstitut de Recerca Sant Joan de Déu, 08950, Barcelona, Spain.
Mariona SuñolInstitut de Recerca Sant Joan de Déu, 08950, Barcelona, Spain.
Jaume Catala-MoraInstitut de Recerca Sant Joan de Déu, 08950, Barcelona, Spain.ORCID http://orcid.org/0000-0002-9386-5980
Genoveva Correa LlanoInstitut de Recerca Sant Joan de Déu, 08950, Barcelona, Spain.
Jérôme CouturierDépartement de Biologie des Tumeurs, Institut Curie, 75005, Paris, France.
Emmanuel BarillotInstitut Curie, PSL Research University, INSERM, U900, 75005, Paris, France.ORCID http://orcid.org/0000-0003-2724-2002
Paula SchaiquevichPathology Service, Hospital J.P. Garrahan, Buenos Aires, Argentina.ORCID http://orcid.org/0000-0002-2568-4731
Marion Gauthier-VillarsDépartement de Biologie des Tumeurs, Institut Curie, 75005, Paris, France.
Dominique Stoppa-LyonnetDépartement de Biologie des Tumeurs, Institut Curie, 75005, Paris, France.ORCID http://orcid.org/0000-0002-5438-8309
Lisa GolmardDépartement de Biologie des Tumeurs, Institut Curie, 75005, Paris, France.
Claude HoudayerDépartement de Biologie des Tumeurs, Institut Curie, 75005, Paris, France.
Hervé BrisseDépartement d'Imagerie Médicale, Institut Curie, 75005, Paris, France.ORCID http://orcid.org/0000-0003-2794-5875
Isabelle Bernard-PierrotInstitut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.ORCID http://orcid.org/0000-0002-8967-5092
Eric LetouzéCentre de Recherche des Cordeliers, Sorbonne Universités, INSERM, 75006, Paris, France.ORCID http://orcid.org/0000-0002-6369-2839
Alain ViariSynergie Lyon Cancer, Plateforme de Bioinformatique "Gilles Thomas", Centre Léon Bérard, 69008, Lyon, France.
Simon SauleInstitut Curie, CNRS, UMR3347, PSL Research University, 91405, Orsay, France.
Xavier Sastre-GarauDépartement de Biologie des Tumeurs, Institut Curie, 75005, Paris, France.
François DozUniversité de Paris, Paris, France.
Angel M CarcabosoInstitut de Recerca Sant Joan de Déu, 08950, Barcelona, Spain.ORCID http://orcid.org/0000-0002-8485-426X
Nathalie CassouxDépartement de Chirurgie, Service d'Ophtalmologie, Institut Curie, 75005, Paris, France.
Celio PouponnotInstitut Curie, CNRS, UMR3347, PSL Research University, 91405, Orsay, France.
Olivier GoureauInstitut de la Vision, Sorbonne Université, INSERM, CNRS, 75012, Paris, France.
Guillermo ChantadaPrecision Medicine, Hospital J.P. Garrahan, Buenos Aires, Argentina.ORCID http://orcid.org/0000-0002-9375-9336
Aurélien de ReynièsProgramme Cartes d'Identité des Tumeurs, Ligue Nationale Contre le Cancer, 75013, Paris, France.
Isabelle AertsInstitut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France.
François RadvanyiInstitut Curie, CNRS, UMR144, Equipe Labellisée Ligue contre le Cancer, PSL Research University, 75005, Paris, France. francois.radvanyi@curie.fr.ORCID http://orcid.org/0000-0002-5696-6424
Centre National de la Recherche Scientifique · FRInstitut Curie · FRHospital Sant Joan de Déu Barcelona · ESInserm · FRGarrahan Hospital · ARUniversité Paris Cité · FRCentre Léon Bérard · FRIntegraGen (France) · FRLa Ligue Contre le Cancer · FRHôpital Intercommunal de Créteil · FRUniversité Paris Sciences et Lettres · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinoblastoma is the most frequent intraocular malignancy in children, originating from a maturing cone precursor in the developing retina. Little is known on the molecular basis underlying the biological and clinical behavior of this cancer. Here, using multi-omics data, we demonstrate the existence of two retinoblastoma subtypes. Subtype 1, of earlier onset, includes most of the heritable forms. It harbors few genetic alterations other than the initiating RB1 inactivation and corresponds to differentiated tumors expressing mature cone markers. By contrast, subtype 2 tumors harbor frequent recurrent genetic alterations including MYCN-amplification. They express markers of less differentiated cone together with neuronal/ganglion cell markers with marked inter- and intra-tumor heterogeneity. The cone dedifferentiation in subtype 2 is associated with stemness features including low immune and interferon response, E2F and MYC/MYCN activation and a higher propensity for metastasis. The recognition of these two subtypes, one maintaining a cone-differentiated state, and the other, more aggressive, associated with cone dedifferentiation and expression of neuronal markers, opens up important biological and clinical perspectives for retinoblastomas.
Indexed as
Biomarkers, TumorCell DedifferentiationChild, PreschoolDNA MethylationFemaleGene ExpressionGenetic HeterogeneityHumansInfantMaleMutationNeoplasm MetastasisN-Myc Proto-Oncogene ProteinRetinal Cone Photoreceptor CellsRetinal Ganglion CellsRetinal NeoplasmsBiomarkers, TumorMYCN protein, humanN-Myc Proto-Oncogene Protein
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What Socratic holds
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