Adult-Onset Giant Cell Glioblastoma with Biallelic PMS2 Inactivation in Lynch Syndrome

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ID: 333700
2026
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Abstract
Abstract Mismatch repair-deficient glioblastomas represent a rare molecular subset with important hereditary and therapeutic implications. We report a 58-year-old man with adult-onset giant cell glioblastoma showing isolated PMS2 loss, MSI-H status, ultra-high tumor mutational burden, and confirmed biallelic PMS2 inactivation from a likely pathogenic germline PMS2 splice-site variant and somatic PMS2 nonsense mutation, revealing previously unrecognized Lynch syndrome. DNA methylation profiling classified the tumor as high-grade glioma with mismatch repair deficiency, with a methylation match to diffuse high-grade glioma, IDH-wildtype, subtype E. Given MGMT promoter unmethylation and mismatch repair deficiency, temozolomide was omitted, and the patient received adjuvant radiation therapy with concurrent and maintenance pembrolizumab. Surveillance MRI at five months after gross total resection showed no evidence of recurrence. This case highlights giant cell morphology and ultra-high tumor mutational burden as potential clues to underlying mismatch repair deficiency and supports consideration of reflex MMR immunohistochemistry, germline evaluation, and immune checkpoint inhibition in selected dMMR/MSI-H glioblastomas.
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Authors Muhammed Onel, Luke Gingell, Aysegul Kasay, Mohammad Muhsin Chisti
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Journal Neuro-Oncology Advances
Year 2026
DOI
10.1093/noajnl/vdag256
URL
https://doi.org/10.1093/noajnl/vdag256
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