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Article

A PMS2-deficient pediatric high-grade glioma with PI3K-pathway mutations and adjacent developmental venous anomaly suggestive of CMMRD.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 26 Mar 2026

Erbağcı Ahmet, Akkurt Tuçe Söylemez, Atalay Başak, Gürbüz Mehmet Sabri, Aksu Muhammed Emin, Çakır Fatma Betül, Ay Gülnihal

Abstract excerpt

PURPOSE: Constitutional mismatch repair deficiency (CMMRD) is a rare hereditary cancer predisposition syndrome that frequently manifests with pediatric high-grade gliomas. However, recognition remains challenging, particularly in the absence of a clear family history. We report a pediatric high-grade glioma with PMS2 deficiency and complex molecular alterations to highlight key diagnostic clues and the importance...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41886087
DOI: 10.1007/s00381-026-07230-y

Genes

PMS2
PIK3CA
PTEN
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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A PMS2-deficient pediatric high-grade glioma with PI3K-pathway mutations and adjacent developmental venous anomaly suggestive of CMMRD.PMID 41886087Read ↗

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