ArticleLaboratory investigation; a journal of technical methods and pathology2022
Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.
Article in Laboratory investigation; a journal of technical methods and pathology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.
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Who cites it
44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- Diagnostic and predictive molecular biomarkers in brain tumors across the lifespan: an age-stratified consensus statement.Journal of neuro-oncology · 2025Pooled it
- Imaging features associated with H3 K27-altered and H3 G34-mutant gliomas: a narrative systematic review.Cancer imaging : the official publication of the International Cancer Imaging Society · 2022Pooled it
- "Updates on diagnostic and prognostic molecular biomarkers of CNS tumors".Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Review
- Review
- Diffuse Midline Gliomas: Clinical, Diagnostic, and Therapeutic Perspectives.Biomedicines · 2026Review
- Assessment of the Type and Degree of Genomic Instability in Gliomas.International journal of molecular sciences · 2026Article
- Clinicopathologic, molecular and tumor immune microenvironment features of mismatch repair-deficient glioblastomas in Lynch syndrome: a multicenter study of 29 cases with therapeutic implications.Acta neuropathologica communications · 2026Article
- Intraventricular glioblastoma in Lynch syndrome: a case report.Acta neurologica Belgica · 2026Article
- High-grade gliomas and Lynch syndrome: A retrospective descriptive study with a literature review.Neuro-oncology practice · 2026Article
- Primary and metastatic brain tumours in hereditary cancer syndromes: case reports with and literature review.Hereditary cancer in clinical practice · 2026Article
- Lynch syndrome withOpen life sciences · 2026Article
- Lynch Syndrome in Focus: A Multidisciplinary Review of Cancer Risk, Clinical Management, and Special Populations.Cancers · 2025Review
- Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.Nature communications · 2025Article
- Unique Genetic and Epigenetic Alterations in Glioblastoma Long-Term Survivors: Insights From Two Clinical Cases.Journal of cellular and molecular medicine · 2025Article
- A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.Discover oncology · 2025Article
- Diffuse glioneuronal tumor in Lynch syndrome: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Ionizing Radiation May Induce Tumors Partly Through the Alteration or Regulation of Mismatch Repair Genes.Cancers · 2025Review
- MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.Acta neuropathologica · 2025Article
- A rare case of sporadic metastatic colorectal cancer with glioblastoma multiforme: a challenging clinical scenario.Journal of surgical case reports · 2025Article
- Inorganic and hybrid nanomaterials for NIR-II fluorescence imaging-guided therapy of Glioblastoma and perspectives.Theranostics · 2025Review
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Authors and funding
13 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mismatch repair-deficient (MMRD) brain tumors are rare among primary brain tumors and can be induced by germline or sporadic mutations. Here, we report 13 MMRD-associated (9 sporadic and 4 Lynch syndrome) primary brain tumors to determine clinicopathological and molecular characteristics and biological behavior. Our 13 MMRD brain tumors included glioblastoma (GBM) IDH-wildtype (n = 9) including 1 gliosarcoma, astrocytoma IDH-mutant WHO grade 4 (n = 2), diffuse midline glioma (DMG) H3 K27M-mutant (n = 1), and pleomorphic xanthoastrocytoma (PXA) (n = 1). Next-generation sequencing using a brain tumor-targeted gene panel, microsatellite instability (MSI) testing, Sanger sequencing for germline MMR gene mutation, immunohistochemistry of MMR proteins, and clinicopathological and survival analysis were performed. There were many accompanying mutations, suggesting a high tumor mutational burden (TMB) in 77%, but TMB was absent in one case of GBM, IDH-wildtype, DMG, and PXA, respectively. MSH2, MLH1, MSH6, and PMS2 mutations were found in 31%, 31%, 31% and 7% of patients, respectively. MSI-high and MSI-low were found in 50% and 8% of these gliomas, respectively and 34% was MSI-stable. All Lynch syndrome-associated GBMs had MSI-high. In addition, 77% (10/13) had histopathologically multinucleated giant cells. The progression-free survival tended to be poorer than the patients with no MMRD gliomas, but the number and follow-up duration of our patients were insufficient to get statistical significance. In the present study, we found that the most common MMRD primary brain tumor was GBM IDH-wildtype. The genetic profile of MMRD GBM was different from that of conventional GBM. MMRD gliomas with TMB and MSI-H may be sensitive to immunotherapy but resistant to temozolomide. Our findings can help develop better treatment options.
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