ReviewNeuro-oncology advances
An update on central nervous system tumors in germline replication-repair deficiency syndromes.
Review in Neuro-oncology advances. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Should checkpoint inhibitors be reserved for biomarker-selected pediatric brain tumors?Journal of neuro-oncology · 2026Pooled it
- Outcomes of immunotherapy in medulloblastoma: a systematic review.The oncologist · 2026Pooled it
- Clinical and Paraclinical Characteristics Relevant to NeuroRehabilitation and Their Outcomes in Postoperative Glioblastoma Patients: A PRISMA Systematic Literature Review.Life (Basel, Switzerland) · 2026Review
- The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists.Clinical neuroradiology · 2026Review
- Pediatric high-grade gliomas in patients with neurofibromatosis type 1-A collaborative cohort study from the SIOPE HGG/DIPG working group.Neuro-oncology practice · 2026Article
- Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma.Nature genetics · 2026Article
- Mutation patterns drive mismatch repair-deficient glioma evolution.Nature genetics · 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
- Central Nervous System Tumors in Adolescents and Young Adults.Current neurology and neuroscience reports · 2025Review
- The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.Acta neuropathologica · 2025Article
- Multidisciplinary adolescent and young adult neuro-oncology clinic: Clinical cases, practice challenges, and future perspectives.Neuro-oncology advancesArticle
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA replication-repair deficiency (RRD) arises from pathogenic variants in the mismatch repair and/or polymerase-proofreading genes. Multiple germline cancer predisposition syndromes in children and young adults, including constitutional mismatch repair deficiency (CMMRD), Lynch, polymerase-proofreading deficiency, and rare digenic syndromes can lead to RRD cancers. The most frequent brain tumors in these children are high-grade gliomas. Embryonal tumors like medulloblastoma have also been described. Lower-grade tumors are reported from cancer surveillance initiatives. The latter has an extremely high rate of malignant transformation. Novel functional assays quantifying the genomic microsatellite indel load have been demonstrated to be highly sensitive and specific for the diagnosis of RRD cancers and children with germline CMMRD. Importantly, RRD brain tumors uniformly harbor high mutation and microsatellite burden. High T-cell infiltration makes these aggressive cancers amenable to immune checkpoint inhibition, irrespective of their germline genetic background. Synergistic combinations are reported to be successful in patients failing checkpoint inhibitor monotherapy. Future directions include the development of innovative approaches to improve immune surveillance for RRD brain cancers. Additionally, the use of novel tools including circulating tumor DNA and quantifying microsatellite indel load over time can be useful to monitor disease burden and treatment responses in patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.