biostudies-literatureUnknown5(1)Richardson TE<h4>Background</h4>Mutations in mismatch repair (MMR) genes (<i>MSH2</i>, <i>MSH6</i>, <i>MLH1</i>, and <i>PMS2)</i> are associated with microsatellite instability and a hypermutator phenotype in numerous systemic cancers, and germline MMR mutations have been implicated in multi-organ tumor syndromes. In gliomas, MMR mutations can function as an adaptive response to alkylating chemotherapy, although there are well-documented cases of germline and sporadic mutations, with detrimental effects on patient survival.<h4>Methods</h4>The clinical, pathologic, and molecular features of 18 IDH-mutant astrocytomas and 20 IDH-wild-type glioblastomas with MMR mutations in the primary tumor were analyzed in comparison to 361 IDH-mutant and 906 IDH-wild-type tumors without MMR mutations. In addition, 12 Neuro-oncology advancesvdad085https://www.ebi.ac.uk/biostudies/studies/S-EPMC10406418biostudies-literatureMismatch repair protein mutations in isocitrate dehydrogenase (IDH)-mutant astrocytoma and IDH-wild-type glioblastoma.PMC10406418Snuderl MWalker JMTsankova NMYokoda RTRashidipour OUmphlett MAbdullah KGMcBrayer SKVij MRichardson TEHatanpaa KJBrem SfalseMismatch repair protein mutations in isocitrate dehydrogenase (IDH)-mutant astrocytoma and IDH-wild-type glioblastoma.<h4>Background</h4>Mutations in mismatch repair (MMR) genes (<i>MSH2</i>, <i>MSH6</i>, <i>MLH1</i>, and <i>PMS2)</i> are associated with microsatellite instability and a hypermutator phenotype in numerous systemic cancers, and germline MMR mutations have been implicated in multi-organ tumor syndromes. In gliomas, MMR mutations can function as an adaptive response to alkylating chemotherapy, although there are well-documented cases of germline and sporadic mutations, with detrimental effects on patient survival.<h4>Methods</h4>The clinical, pathologic, and molecular features of 18 IDH-mutant astrocytomas and 20 IDH-wild-type glioblastomas with MMR mutations in the primary tumor were analyzed in comparison to 361 IDH-mutant and 906 IDH-wild-type tumors without MMR mutations. In addition, 12 2023-01-01T00:00:00Z2023 Jan-Dec2025-05-29T20:49:15.662Z2025-05-29T20:49:15.662ZS-EPMC104064183755422210.1093/noajnl/vdad085