ArticleActa neuropathologica communications2015
Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion.
Article in Acta neuropathologica communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 64 citations in OpenAlex.
- High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors.Research square · 2026Article
- High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors.medRxiv : the preprint server for health sciences · 2026Article
- Papillary glioneuronal tumor presenting with recurrent epileptic seizures in a 6-year-old boy: A case report and comprehensive literature review.Surgical neurology international · 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
- Synchronous intracranial arteriovenous malformation and papillary glioneuronal tumour: hypothesis or reality?Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Extra-temporal pediatric low-grade gliomas and epilepsy.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Low-grade glioma of the temporal lobe and tumor-related epilepsy in children.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Optimizing biomarkers for accurate ependymoma diagnosis, prognostication, and stratification within International Clinical Trials: A BIOMECA study.Neuro-oncology · 2023Article
- Rare Neuronal, Glial and Glioneuronal Tumours in Adults.Cancers · 2023Review
- Glioneuronal and Neuronal Tumors of the Central Nervous System.Advances in experimental medicine and biology · 2023Article
- The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases.Neuropathology and applied neurobiology · 2022Article
- Liquid biopsy detection of genomic alterations in pediatric brain tumors from cell-free DNA in peripheral blood, CSF, and urine.Neuro-oncology · 2022Article
- Overarching roles of diacylglycerol signaling in cancer development and antitumor immunity.Science signaling · 2022Review
- The oncogenic fusion landscape in pediatric CNS neoplasms.Acta neuropathologica · 2022Review
- Low-grade epilepsy-associated neuroepithelial tumors: Tumor spectrum and diagnosis based on genetic alterations.Frontiers in neuroscience · 2022Review
- The complexities of PKCα signaling in cancer.Advances in biological regulation · 2021Review
- The Essentials of Molecular Testing in CNS Tumors: What to Order and How to Integrate Results.Current neurology and neuroscience reports · 2020Review
- Low-grade developmental and epilepsy associated brain tumors: a critical update 2020.Acta neuropathologica communications · 2020Review
- A glioneuronal tumor withNPJ genomic medicine · 2020Article
- Anaplastic glioneuronal tumor withIntractable & rare diseases research · 2019Article
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Authors and funding
18 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionPapillary Glioneuronal Tumor (PGNT) is a grade I tumor which was classified as a separate entity in the World Health Organization Classification of the Central Nervous System 2007 in the group of mixed glioneuronal tumors. This tumor is rare and subclassifying PGNT represents a challenge. Recently, a fusion between SLC44A1 and PRKCA which encodes a protein kinase C involved in MAPK signaling pathway has been described in two studies (five cases). The current study aimed at raising the cytogenetic, histological and molecular profiles of PGNT and to determine if SLC44A1-PRKCA fusion represented a specific diagnostic marker to distinguish it from other glioneuronal tumors.
resultsWe report on four pediatric cases of PGNT, along with clinico-radiologic and immunohistological features for which SLC44A1-PRKCA fusion assessment by fluorescence in situ hybridization, BRAF V600E and FGFR1 mutation by immunohistochemistry and direct DNA sequencing and KIAA1549-BRAF fusion by RT-PCR were performed. MAPK signaling pathway activation was investigated using phospho-ERK immunohistochemistry and western blot. We analyzed fifteen cases of tumors with challenging histological or clinical differential diagnoses showing respectively a papillary architecture or periventricular location (PGNT mimics). fluorescence in situ hybridization analysis revealed a constant SLC44A1-PRKCA fusion signal in all PGNTs. None of PGNT mimics showed the SLC44A1-PRKCA fusion signal pattern. All PGNTs were negative for BRAF V600E and FGFR1 mutation, and KIAA1549-BRAF fusion. Phospho-ERK analysis provides arguments for the activation of the MAPK signaling pathway in these tumors.
conclusionsHere we confirmed and extended the molecular data on PGNT. These results suggest that PGNT belong to low grade glioma with MAPK signaling pathway deregulation. SLC44A1-PRKCA fusion seems to be a specific characteristic of PGNT with a high diagnostic value and detectable by FISH.
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