ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2016
Pediatric thalamic glioma with H3F3A K27M mutation, which was detected before and after malignant transformation: a case report.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
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10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- Imaging features associated with H3 K27-altered and H3 G34-mutant gliomas: a narrative systematic review.Cancer imaging : the official publication of the International Cancer Imaging Society · 2022Pooled it
- Management of incidental brain tumors in children: a systematic review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Pooled it
- Pediatric thalamic incidentalomas: a retrospective analysis of their characteristics, evolution, management, and prognostic factors for progression.Acta neurochirurgica · 2025Article
- Incidental brain tumor findings in children: prevalence, natural history, management, controversies, challenges, and dilemmas.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Neuroradiological, genetic and clinical characteristics of histone H3 K27-mutant diffuse midline gliomas in the Kansai Molecular Diagnosis Network for CNS Tumors (Kansai Network): multicenter retrospective cohort.Acta neuropathologica communications · 2024Article
- H3 K27-altered diffuse midline glioma of the thalamus with formation of glio-fibrillary globular structures.International journal of clinical and experimental pathology · 2024Article
- Indolent presentation of a diffuse midline glioma, H3 K27-altered.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Article
- Oncohistones: a roadmap to stalled development.The FEBS journal · 2022Review
- Pediatric posterior fossa incidentalomas.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Malignant transformation of a conservatively managed incidental childhood cerebral mass lesion: controversy regarding management paradigm.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2017Article
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Authors and funding
12 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
purposeHistone H3.3 (H3F3A) mutation in the codon for lysine 27 (K27M) has been found as driver mutations in pediatric glioblastoma and has been suggested to play critical roles in the pathogenesis of thalamic gliomas and diffuse intrinsic pontine gliomas. We report a case of thalamic glioma with H3F3A K27M mutation, which was detected in both the primary tumor diagnosed as diffuse astrocytoma obtained during the first surgery and also in the tumor diagnosed as anaplastic astrocytoma obtained at the second surgery. CASE PRESENTATION: A 14-year-old girl presented with mild headache. Magnetic resonance imaging (MRI) showed a small intraaxial lesion in the left thalamus, which increased in size. Stereotactic tumor biopsy was performed 2 years after the initial diagnosis, and a pathological diagnosis of diffuse astrocytoma (WHO grade 2) was made. The tumor grew further and showed contrast enhancement on MRI despite 16 months of chemotherapy. Surgical removal via the transcallosal approach was then performed, and postoperative pathological diagnosis was anaplastic astrocytoma (WHO grade 3), indicating malignant transformation of the tumor. Molecular diagnosis of tumor tissue obtained at first and second surgeries revealed H3F3A K27M mutation in both primary and secondary specimens.
conclusionThis report demonstrates minute neuroradiological and pathological features of malignant transformation from thalamic low grade glioma with H3F3A K27M mutation. It is noteworthy that this mutation was found in this case when the tumor was still a low-grade glioma. Tissue sampling for genetic analysis is useful in patients with thalamic gliomas to predict the clinical course and efficacy of treatments.
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