{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T10:18:22Z","timestamp":1771928302461,"version":"3.50.1"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T00:00:00Z","timestamp":1769731200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>\n                    This case report describes a 38-year-old Chinese male with Lynch syndrome (LS)-associated glioblastoma (GBM), harboring concurrent germline NM_000251.3:c.942 + 3A&amp;gt;T and somatic NM_000179.3:c.3261dup mutations. The patient presented with progressive headaches, and imaging revealed a right frontal lobe mass with features suggestive of high-grade glioma. Histopathological and molecular analyses confirmed glioblastoma (WHO grade IV), microsatellite instability-high (MSI-H), and mismatch repair deficiency (dMMR). Familial cancer history, including colorectal and gallbladder malignancies in first-degree relatives, aligned with LS diagnostic criteria. The co-occurrence of\n                    <jats:italic>MSH2<\/jats:italic>\n                    splicing disruption and\n                    <jats:italic>MSH6<\/jats:italic>\n                    frameshift mutation synergistically exacerbated genomic instability, highlighting a potential mechanism for LS-driven gliomagenesis. This case underscores the importance of genetic screening in young-onset or familial GBM patients, advocates for integrating molecular profiling into therapeutic decision-making, and expands the understanding of LS-associated CNS tumorigenesis.\n                  <\/jats:p>","DOI":"10.3389\/fonc.2026.1727445","type":"journal-article","created":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T05:25:49Z","timestamp":1769750749000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: A case of Lynch syndrome-related glioblastoma with coexisting MSH2 splicing defect and MSH6 frameshift mutation"],"prefix":"10.3389","volume":"16","author":[{"given":"Liwei","family":"Huang","sequence":"first","affiliation":[{"name":"Youjiang Medical University for Nationalities","place":["Baise, Guangxi, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaochun","family":"Tang","sequence":"additional","affiliation":[{"name":"Baise People\u2019s Hospital","place":["Baise, Guangxi, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Demin","family":"Cao","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Pathology in Tumors of Guangxi","place":["Baise, Guangxi, China"]},{"name":"Clinical Pathological Diagnosis & Research Center, The Affiliated Hospital of Youjiang Medical University for Nationalities","place":["Baise, Guangxi, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulei","family":"Li","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Pathology in Tumors of Guangxi","place":["Baise, Guangxi, China"]},{"name":"Clinical Pathological Diagnosis & Research Center, The Affiliated Hospital of Youjiang Medical University for Nationalities","place":["Baise, Guangxi, 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