ArticleCommunications biology2024
A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma.
Article in Communications biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- 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
- MYCN Amplification Drives Ferroptosis Susceptibility via Cysteine Metabolism in Retinoblastoma.Investigative ophthalmology & visual science · 2026Article
- Retinoblastoma: unveiling molecular pathogenesis and pioneering organoid-driven therapeutic innovations.Stem cell research & therapy · 2026Review
- Human Retinal Organoid Modeling Defines Developmental Window and Therapeutic Vulnerabilities in MYCN-Amplified Retinoblastoma.International journal of molecular sciences · 2025Article
- Mucinous cystic neoplasms and simple mucinous cysts are two distinct precursors of pancreatic cancer: clinicopathological, genomic, and transcriptomic characterization.The Journal of pathology · 2025Article
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- Editorial: The immunosuppressive microenvironment in pediatric cancers: applications and considerations in immunotherapy.Frontiers in oncology · 2025Article
- [Liquid biopsy in retinoblastomas].Die Ophthalmologie · 2024Review
Corrections and comments
- Erratum issued
Authors and funding
20 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinoblastoma are childhood eye tumors arising from retinal precursor cells. Two distinct retinoblastoma subtypes with different clinical behavior have been described based on gene expression and methylation profiling. Using consensus clustering of DNA methylation analysis from 61 retinoblastomas, we identify a MYCN-driven cluster of subtype 2 retinoblastomas characterized by DNA hypomethylation and high expression of genes involved in protein synthesis. Subtype 2 retinoblastomas outside the MYCN-driven cluster are characterized by high expression of genes from mesodermal development, including NKX2-5. Knockdown of MYCN expression in retinoblastoma cell models causes growth arrest and reactivates a subtype 1-specific photoreceptor signature. These molecular changes suggest that removing the driving force of MYCN oncogenic activity rescues molecular circuitry driving subtype 1 biology. The MYCN-RB gene signature generated from the cell models better identifies MYCN-driven retinoblastoma than MYCN amplification and can identify cases that may benefit from MYCN-targeted therapy. MYCN drives tumor progression in a molecularly defined retinoblastoma subgroup, and inhibiting MYCN activity could restore a more differentiated and less aggressive tumor biology.
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