Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma.

doi:10.1038/s41588-025-02420-x

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Article

Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma.

Nature genetics - 1 Jan 2026

Fernandez Nicholas R, Chang Yuan, Nunes Nuno M, Dimayacyac Jose R, Levine Adrian, Ringel Amit, Negm Logine, Ercan Ayse Bahar, Hess Julian M, Ahmad Olfat, Lee Caitlin, Stengs Lucie, Bianchi Vanessa, Edwards Melissa, Doherty Sheradan, Chung Jiil, Nobre Liana, Bennett Julie, Dodgshun Andrew J, Jones David T W, Pfister Stefan M, Villani Anita, Malkin David, Ramaswamy Vijay, Huang Annie, Bouffet Eric, Aronson Melyssa, Dirks Peter B, Shlien Adam, Getz Gad, Maruvka Yosef E, Ertl-Wagner Birgit, Hawkins Cynthia, Das Anirban, Tabori Uri

Abstract excerpt

Primary mismatch-repair-deficient high-grade gliomas (priMMRD-HGG) are lethal tumors characterized by hypermutation, resistance to chemoradiation and variable response to immunotherapy. To investigate the mechanisms governing the emergence of driver mutations and their impact on gliomagenesis and patient outcomes, we analyzed genomic and clinical data from 162 priMMRD-HGG. Here we identified three subgroups...

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Identifiers

PMID: 41430480
DOI: 10.1038/s41588-025-02420-x

Genes

IDH1
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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