ArticleHGG advances2026
Pediatric high-grade gliomas and cancer predisposition syndromes: A retrospective study.
Article in HGG advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The relationship between pediatric and adolescent/young adult (AYA) patients with high-grade gliomas (pediatric high-grade gliomas [pHGGs]) and cancer predisposition syndromes (CPSs) remains insufficiently explored, despite the increasing use of massive parallel sequencing in the diagnostic setting. We retrospectively analyzed sequencing data from 95 pediatric patients diagnosed with HGGs to investigate the presence of germline variants associated with cancer risk. The presence of somatic variants was also evaluated in 15 affected individuals. In silico and in vitro studies were performed to reclassify one variant of uncertain significance (VUS). We identified 80 variants across the 95 patients, including 17 pathogenic (P), 2 likely pathogenic (LP), 60 VUSs, and 1 likely benign (LB), after reclassification. Notably, 23.7% of the P/LP variants were found in genes associated with CPSs. While the distribution of these variants did not show significant differences across tumor subtypes, the highest proportion of P/LP variants was observed in diffuse midline gliomas. Functional studies led to the reclassification of one LZTR1 variant from a VUS to LP. The collected data revealed that 18.9% of patients had P/LP variants; notably, among the 11.6% of patients carrying P/LP variants, there were variants in genes known to be associated with the development of central nervous system (CNS) tumors in pediatric and AYA patients, a rate higher than the 10% incidence typically reported in the literature for pediatric CNS tumors. This finding underscores the value of our comprehensive analysis for germline variants in HGG, suggesting a greater prevalence of CPS in these patients than previously reported.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.