ArticleNeuro-oncology2025
Germline analysis of an international cohort of pediatric diffuse midline glioma patients.
Article in Neuro-oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Targeted therapies plus radiotherapy for diffuse intrinsic pontine glioma: the randomized phase 2 BIOMEDE trial.Nature medicine · 2026Trial
- The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists.Clinical neuroradiology · 2026Review
- Precision-guided therapy in H3K27-altered diffuse midline glioma.Nature communications · 2026Observational
- Berzosertib enhances the sensitivity of pediatric diffuse midline glioma H3K27-altered cells to radiotherapy.Cell death & disease · 2026Article
- Prevalence and Clinicoradiopathological Characterization of H3 K27-Altered Diffuse Midline Gliomas in Adults-A Retrospective Observational Study.Pathophysiology : the official journal of the International Society for Pathophysiology · 2026Article
- Germline Predisposition in Pediatric Central Nervous System Tumors: Insights from a Multigene Panel Study.Oncology research · 2026Article
- Molecular characterization and clinical features of diffuse midline glioma in the pediatric precision oncology registry INFORM.Acta neuropathologica · 2025Article
- Concordant high-grade glioma in monozygotic twins with germline variants in ATM, FANCC, and FANCM: a case report on combined DNA repair deficiency.Neuro-oncology advancesArticle
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Authors and funding
38 authors.
Funding
Abstract
backgroundFactors that drive the development of diffuse midline gliomas (DMG) are unknown. Our study aimed to determine the prevalence of pathogenic/likely pathogenic (P/LP) germline variants in pediatric patients with DMG.
methodsWe assembled an international cohort of 252 pediatric patients with DMG, including diffuse intrinsic pontine glioma (n = 153), with germline whole genome or whole exome sequencing.
resultsWe identified P/LP germline variants in cancer predisposition genes in 7.5% (19/252) of patients. Tumor profiles differed, with the absence of somatic drivers in the PI3K/mTOR pathway in patients with germline P/LP variants versus those without (P = .023). P/LP germline variants were recurrent in homologous recombination (n = 9; BRCA1, BRCA2, PALB2) and Fanconi anemia genes (n = 4). Somatic findings established that the germline variants definitively contributed to tumorigenesis in at least 1% of cases. One patient with recurrent DMG and pathogenic germline variants (BRCA2, FANCE) showed a near-complete radiological response to PARP and immune checkpoint inhibition.
conclusionsOur study determined the prevalence of pathogenic germline variants in pediatric DMG and suggests a role in tumorigenesis for a subset of patients.
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