ArticleActa neuropathologica communications2022
Posterior fossa ependymoma H3 K27-mutant: an integrated radiological and histomolecular tumor analysis.
Article in Acta neuropathologica communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 27 citations in OpenAlex.
- Targeted therapies plus radiotherapy for diffuse intrinsic pontine glioma: the randomized phase 2 BIOMEDE trial.Nature medicine · 2026Trial
- Complementary use of the DNA methylation-based tumor classification by the Bethesda v3 classifier in routine diagnostics: evaluation in a series of 516 cases.Acta neuropathologica · 2026Article
- De novo H3.3K27M-altered diffuse midline glioma in human brainstem organoids to dissect GD2 CAR T cell function.Nature cancer · 2026Article
- EZHIP in Pediatric Brain Tumors: From Epigenetic Mimicry to Therapeutic Vulnerabilities.International journal of molecular sciences · 2026Review
- Thoracic metastasis of a pediatric posterior fossa group A ependymoma: a rare case and literature review.World journal of pediatric surgery · 2026Article
- cIMPACT-NOW update 11: Proposal on adaptation of diagnostic criteria for IDH- and H3-wildtype diffuse high-grade gliomas and for posterior fossa ependymal tumors.Brain pathology (Zurich, Switzerland) · 2026Article
- Utility of Immunohistochemistry in Subtyping Posterior Fossa Group A Ependymoma: A Retrospective Study.Asian journal of neurosurgery · 2025Article
- Co-detection of mutations and methylations in cerebrospinal fluid ctdna for minimally-invasive diagnosis of brainstem glioma.Journal of experimental & clinical cancer research : CR · 2025Article
- Advances in molecular prognostication and treatments in ependymoma.Journal of neuro-oncology · 2025Review
- Rapid intraoperative amplicon sequencing of CNS tumor markers.Computational and structural biotechnology journal · 2024Article
- Origins of Second Malignancies in Children and Mutational Footprint of Chemotherapy in Normal Tissues.Cancer discovery · 2024Article
- Case report: Polymorphous low-grade neuroepithelial tumor of the young and supratentorial ependymoma diagnosed in an adult male.Frontiers in neurology · 2024Article
- The pontine diffuse midline glioma, EGFR-subtype with ependymal features: Yet another face of diffuse midline glioma, H3K27-altered.Brain pathology (Zurich, Switzerland) · 2024Article
- Oncohistones and disrupted development in pediatric-type diffuse high-grade glioma.Cancer metastasis reviews · 2023Review
- Newly Recognized CNS Tumors in the 2021 World Health Organization Classification: Imaging Overview with Histopathologic and Genetic Correlation.AJNR. American journal of neuroradiology · 2023Review
- Common molecular features of H3K27M DMGs and PFA ependymomas map to hindbrain developmental pathways.Acta neuropathologica communications · 2023Article
- Pediatric diffuse midline glioma H3K27- altered: A complex clinical and biological landscape behind a neatly defined tumor type.Frontiers in oncology · 2022Review
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Authors and funding
14 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Posterior fossa group A ependymomas (EPN_PFA) are characterized by a loss of H3 K27 trimethylation due to either EZHIP overexpression or H3 p.K27M mutation, similar to H3 K27-altered diffuse midline gliomas (DMG), but in reverse proportions. Very little data is available in the literature concerning H3 K27M-mutant EPN_PFA. Here, we retrospectively studied a series of nine pediatric tumors initially diagnosed as H3 K27M-mutant EPN_PFA to compare them to EZHIP-overexpressing EPN_PFA in terms of radiology, follow-up, histopathology, and molecular biology (including DNA-methylation profiling). Seven tumors clustered within EPN_PFA by DNA-methylation analysis and t-distributed stochastic neighbor embedding. Among the two remaining cases, one was reclassified as a DMG and the last was unclassified. H3 K27M-mutant EPN_PFA cases were significantly older than their counterparts with an EZHIP overexpression. Radiological and histopathological central review of our seven H3 K27M-mutant EPN_PFA cases found them to be similar to their counterparts with an EZHIP overexpression. Sequencing analyses revealed HIST1H3B (n = 2), HIST1H3C (n = 2), H3F3A (n = 1), and HIST1H3D (n = 1) K27M mutations (no sequencing analysis available for the last case which was immunopositive for H3K27M). Consequently, HIST1H3C/D mutations are more frequently observed in EPN_PFA than in classic pontine DMG, H3K27-mutant. Overall survival and event-free survival of EZHIP-overexpressing and H3 K27M-mutant EPN_PFA were similar. After surgery and radiation therapy, 5/7 patients were alive at the end of the follow-up. In summary, the diagnosis of EPN_PFA must include tumor location, growth pattern, Olig2 expression, and DNA-methylation profiling before it can be differentiated from DMG, H3 K27-altered.
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