ArticleActa neuropathologica communications2021
Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation.
Article in Acta neuropathologica communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- FOXR2-activated CNS neuroblastoma: Characterized by variable structural disruption of theNeuro-oncology pediatrics · 2026Article
- Molecular and clinical stratification of astroblastomas: Three distinct fusion-defined groups informing risk-adapted treatment strategies.Neuro-oncology · 2026Article
- Use of DNA Methylation Profiling as a Molecular Classification Tool for Paediatric Central Nervous System Tumours: A Middle-Income Country Population-Based Study.Neuropathology and applied neurobiology · 2025Article
- FOXR2 activation is not exclusive of CNS neuroblastoma.Neuro-oncology · 2025Article
- Diffuse hemispheric glioma, H3 G34-mutant: defining the clinical picture through a single institution case series and literature analysis.Journal of neuro-oncology · 2025Review
- A novel TRKB-activating internal tandem duplication characterizes a new mechanism of receptor tyrosine kinase activation.NPJ precision oncology · 2025Article
- FOXR2 Targets LHX6+/DLX+ Neural Lineages to Drive Central Nervous System Neuroblastoma.Cancer research · 2025Article
- Sex chromosomes/hormones and the tumor microenvironment of non-reproductive cancers.Frontiers in immunology · 2025Review
- FOXR2 in cancer development: emerging player and therapeutic opportunities.Oncology research · 2025Review
- Article
- Current status of DNA methylation profiling in neuro-oncology as a diagnostic support tool: A review.Neuro-oncology practice · 2023Review
- Neoadjuvant Chemotherapy with Laser Interstitial Thermal Therapy in Central Nervous System Neuroblastoma: Illustrative Case and Literature Review.Brain sciences · 2023Article
- Review
- CNS neuroblastoma, FOXR2-activated and its mimics: a relevant panel approach for work-up and accurate diagnosis of this rare neoplasm.Acta neuropathologica communications · 2023Article
- Intracranial Tumors in the First Year of Life.Advances and technical standards in neurosurgery · 2023Article
- The 2021 World Health Organization Classification of Tumors of the Central Nervous System: What Neuroradiologists Need to Know.AJNR. American journal of neuroradiology · 2022Review
- Molecular landscape of pediatric type IDH wildtype, H3 wildtype hemispheric glioblastomas.Laboratory investigation; a journal of technical methods and pathology · 2022Article
- Adult cerebellar glioblastoma categorized into a pediatric methylation class with a unique radiological and histological appearance: illustrative case.Journal of neurosurgery. Case lessons · 2022Article
- MYCN in Neuroblastoma: "Old Wine into New Wineskins".Diseases (Basel, Switzerland) · 2021Review
- Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment.Cancers · 2021Review
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17 authors.
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Abstract
Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly malignant neoplasms posing diagnostic challenge due to a lack of defining molecular markers. CNS neuroblastoma with forkhead box R2 (FOXR2) activation (CNS_NBL) emerged as a distinct pediatric brain tumor entity from a pool previously diagnosed as primitive neuroectodermal tumors of the central nervous system (CNS-PNETs). Current standard of identifying CNS_NBL relies on molecular analysis. We set out to establish immunohistochemical markers allowing safely distinguishing CNS_NBL from morphological mimics. To this aim we analyzed a series of 84 brain tumors institutionally diagnosed as CNS-PNET. As expected, epigenetic analysis revealed different methylation groups corresponding to the (1) CNS-NBL (24%), (2) glioblastoma IDH wild-type subclass H3.3 G34 (26%), (3) glioblastoma IDH wild-type subclass MYCN (21%) and (4) ependymoma with RELA_C11orf95 fusion (29%) entities. Transcriptome analysis of this series revealed a set of differentially expressed genes distinguishing CNS_NBL from its mimics. Based on RNA-sequencing data we established SOX10 and ANKRD55 expression as genes discriminating CNS_NBL from other tumors exhibiting CNS-PNET. Immunohistochemical detection of combined expression of SOX10 and ANKRD55 clearly identifies CNS_NBL discriminating them to other hemispheric CNS neoplasms harboring "PNET-like" microscopic appearance. Owing the rarity of CNS_NBL, a confirmation of the elaborated diagnostic IHC algorithm will be necessary in prospective patient series.
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