Article

A PMS2-Deficient Pediatric High-Grade Glioma with PI3K-Pathway Mutations and Adjacent Developmental Venous Anomaly Suggestive of CMMRD

2026-02-06

Abstract excerpt

<title>Abstract</title> <p> <bold>Purpose</bold> 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 highlig...

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Literature Corpus work: 7a79751e-af5e-50e8-8783-d5e78259d973
DOI: 10.21203/rs.3.rs-8436645/v1

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