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At least 37 records · Page 2Linked to original sources
PubMed2026

A PMS2-deficient pediatric high-grade glioma with PI3K-pathway mutations and adjacent developmental venous anomaly suggestive of CMMRD.

PURPOSE: Constitutional mismatch repair deficiency (CMMRD) is a rare hereditary cancer predisposition syndrome that frequently manifests with pediatric high-grade gliomas. However, recognition remains challenging, particularly in the absence of a clear family history. We report a pediatric high-grade glioma with PMS2 deficiency and complex molecular alterations to highlight key diagnostic clues and the importance of routine mismatch repair assessment. METHODS: Clinical, radiological, histopathological, immunohistochemical, and molecular findings of an 8-year-old girl presenting with a high-grade glioma were retrospectively evaluated. Immunohistochemistry included glial and mismatch repair markers. Targeted next-generation sequencing was performed to assess tumor mutational burden and pathogenic variants. RESULTS: Neuroimaging revealed a right frontoparietal mass associated with an adjacent developmental venous anomaly. Histopathology demonstrated a diffuse pediatric-type high-grade glioma with pseudopapillary architecture and marked mitotic activity. Immunohistochemistry showed diffuse p53 overexpression in tumor cells and complete loss of PMS2 expression in both tumor and non-neoplastic cells, supporting constitutional mismatch repair deficiency. Molecular analysis revealed an ultra-hypermutated profile with a tumor mutational burden of 117.4 mutations/Mb, a pathogenic PMS2 frameshift variant, and co-occurring alterations in TP53, PIK3CA, PIK3R1, and PTEN. The presence of PI3K-pathway mutations alongside a venous anomaly suggested a potential biological association. CONCLUSION: This case illustrates the characteristic clinicopathological and molecular features of CMMRD-associated pediatric high-grade glioma and underscores the critical role of routine mismatch repair immunohistochemistry. Integrated histological and genomic evaluation is essential for accurate diagnosis, appropriate genetic counseling, and potential therapeutic implications. Key Points • This case represents a pediatric high-grade glioma arising in the setting of PMS2-related constitutional mismatch repair deficiency (CMMRD). • The tumor exhibited an ultra-hypermutated profile with co-occurring TP53, PIK3CA, PIK3R1, and PTEN mutations. • Loss of PMS2 expression in both tumor and non-neoplastic cells was critical in establishing the diagnosis of CMMRD. • The presence of a developmental venous anomaly may relate to underlying PIK3R1 pathway alterations. • Routine mismatch repair immunohistochemistry is essential in pediatric high-grade gliomas, even in the absence of a family history.

Humans↗
PubMed2025

A MGMT Enhancer Variant is Associated with Glioma Susceptibility and Progression.

The O6-methylguanine-DNA methyltransferase (MGMT) plays a significant role in the pathogenesis and progression of glioma. Numerous enhancer variants, including those within the MGMT gene region and adjacent gene regions, have been found to be associated with cancer development and progression. We investigated the significance of enhancer variants located in the intergenic spacer far from the MGMT gene in relation to glioma susceptibility and progression. We recruited 402 glioma patients and 654 controls for this investigation using Sequenom MassARRAY genotyping. We identified a significantly elevated risk of glioma among carriers with the rs11016629 TG genotype compared to those with the GG genotype (OR = 1.41, 95% CI 1.03-1.93; P = 0.034). Subgroup analyses revealed that rs11016629 was significantly associated with glioma risk in subjects with WHO grade IV tumor (OR = 1.59, 95% CI 1.07-2.38; P = 0.023) and high-grade glioma (OR = 1.57, 95% CI 1.11-2.21; P = 0.011). Patients who underwent gross total resection with TG/TT genotypes exhibited a 2.66-fold higher risk of disease progression than GG carriers (HR = 2.66, 95% CI 1.23-5.79; P = 0.014). The study demonstrates that a MGMT enhancer variant rs11016629 contributes to both glioma susceptibility and progression.

Humans↗
PubMed2026

Immunopeptidomics in gliomas: Decoding antigen presentation for precision immunotherapy.

Gliomas and particularly glioblastomas, represent the most aggressive and treatment-resistant brain tumours. Current standard treatments, including surgical resection, radiotherapy and chemotherapy, offer only limited long-term survival benefits. The highly immunosuppressive tumour microenvironment that characterizes gliomas enables immune evasion and limits the effectiveness of anti-tumour immune response, indicating the urgent need for identification of tumour antigens with clinical relevance to improve current immunotherapeutic strategies and enhance glioma immunogenicity. Immunopeptidomics, a mass spectrometry-based identification of peptides presented by HLA molecules, is a growing field of research for understanding the immunosurveillance of gliomas. By enabling the direct identification of naturally presented HLA-bound peptides from tumour tissue for T cell recognition, immunopeptidomics provide valuable insights into tumour antigen presentation and immune targeting. This review highlights the emerging role of immunopeptidomics in gliomas, covering the mechanisms of antigen processing and presentation by HLA class I and II molecules, the identification of glioma-associated antigens, the development of personalised peptide vaccines and the discovery of new targets for T cell-based immunotherapies. The potential of plasma-derived soluble HLA (sHLA) peptidomes as minimally invasive liquid-biopsy biomarkers is further discussed for disease monitoring and response to treatment. Overall, immunopeptidomics are foreseen as a powerful tool for the discovery of new tumour antigens leading to the development of more effective personalised glioma immunotherapies.

Humans↗
PubMed1977

Cerebellar gliomas in children.

We studied the relationship of histologic features to survival in a population of 132 children with cerebellar gliomas (excluding medulloblastomas). These children had their initial tumor operation at The Children's Hospital Medical Center of Boston between 1l927 and 1968. A classification system that accentuates differences in survival was derived on the basis of clustering of histologic features and survival. This division was supported by the existence of differentially distributed symptoms and signs and by differences in resectability. The two major subgroups of cerebellar gliomas had different patterns of clinical characteristics. Cerebellar glioma A had any of the four histologic features of microcyst, leptomeningeal deposit, Rosenthal fiber, or focus of oligodendroglia; children with glioma A had a 10-year survival rate of 94%. Glioma B, encompassing the histologic features of perivascular pseudorosette, high cell density, necrosis, mitosis, and calcification, was clearly defined but histologically less uniform; children with glioma B had a 10-year survival rate of 29%. These two groups accounted for 90% of the cerebellar gliomas in childhood.

Adolescent↗
PubMed1979

Ultrastructural features of cultured human glia and glioma cells.

The fine structure of three lines of human normal glial cells and eight established lines of malignant glioma cells are described. The glial cell lines were ultrastructurally very similar whereas the glioma cell lines differed greatly from one another. In sparse proliferating cultures there were no consistent findings which distinguished the glioma cell lines as a group from the normal glial cells. Only in post-confluent cultures could the consistently irregular cell surfaces and ruffling, both at the cell periphery and centrally on the upper cell surface, with associated pinocytosis, distinguish the glioma from the post-confluent glial cultures, which did not possess these properties. The common attributes of post-confluent glioma cells reflect the cells' continued proliferation. The glioma lines did display individual ultrastructural characteristics which appear to be stable, the glioma lines having retained these during a number of years of continual passage.

Cell Division↗
PubMed2026

A cuproptosis-related lncRNAs-based risk signature for predicting prognosis and immune status in glioma.

BACKGROUND: Glioma is one of the most prevalent primary malignant brain tumors, characterized by poor prognosis and limited treatment options. Recent studies have identified cuproptosis, a novel copper-dependent form of regulated cell death, as a critical mechanism involved in tumor progression. However, the role of cuproptosis-related long non-coding RNAs (lncRNAs) in glioma remains not fully clarified. This study aimed to develop and validate a prognostic model based on cuproptosis-associated lncRNAs to predict patient outcomes and guide individualizing therapeutic strategies. METHODS: Transcriptomic profiles and clinical data were obtained from The Cancer Genome Atlas (TCGA), The Genotype-Tissue Expression (GTEx), and the Chinese Glioma Genome Atlas (CGGA) databases. Cuproptosis -related prognostic lncRNAs were filtered via univariate and multivariate Cox and Least absolute shrinkage and selection operator (LASSO) regression analyses, which were selected to establish a prognostic model for glioma. Samples were divided into high- and low-risk groups, and the predictive performance of the prognostic model was evaluated based on receiver operating characteristic (ROC) curves, Kaplan-Meier (K-M) survival curves, and a nomogram. In addition, immune cell infiltration, tumor mutational burden (TMB), immunophenoscore (IPS), Tumor Immune Dysfunction and Exclusion (TIDE) and drug sensitivity were analyzed. Expression levels of selected lncRNAs and proteins were validated using quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR) and Western blotting. RESULTS: An 11-lncRNA signature associated with cuproptosis was established, and the risk score derived from this model was identified as an independent prognostic factor for glioma. The model exhibited excellent predictive ability, with area under the curve (AUC) values of 0.880, 0.913, and 0.866 for 1-, 3-, and 5-year survival, respectively. Higher TMB, immune checkpoint expression, and IPS were observed in the high-risk group and no significant difference was observed in TIDE between risk groups. Drug sensitivity analysis identified TPCA-1, KIN001-135, and ispinesib mesylate as potential therapeutic agents. Expression validation in glioma cells further supported the biological relevance of the selected lncRNAs. CONCLUSIONS: This cuproptosis-related lncRNA-based signature demonstrates strong prognostic value and may serve as a promising tool for glioma risk stratification and personalized treatment selection.

Glioma↗
PubMed1979

[Glioma in the aged (author's transl)].

Glioma is the most frequent primary brain tumor in the aged which is originally much less frequent comparing that of younger generations. A large majority of gliomas in the aged is malignant. Besides the result of operation and follow-up result have been heretofore reported as more unfavorable. Fourteen cases of glioma in the aged, over 60 years of age, including 7 glioblastomas, 6 anaplastic astrocytomas and one unspecified malignant glioma, have been reported. Preoperative period varied from one month to 15 years and in 6 cases the period was less than 3 months. Poor preoperative state especially disturbance of consciousness mostly due to a markedly increased intracranial pressure, observed in 71% of the cases. The malignant gliomas which were frequently seen among the aged might be transformed tumors of more benign gliomas which originated in the younger generations and developed slowly and silently. Unfavorable prognosis of glioma in the aged might be closely related to the histological nature and poor preoperative state. However, delay of making correct diagnosis and rapidly progressive onset both of which have been mentioned as the speciality of brain tumor in the aged, were not closely related to the unfavorable prognosis.

Aged↗
PubMed1978

Cytolysis of rat glioma cells in vitro by autonomic drugs.

The results of glioma chemotherapy obtained so far have been rather disappointing. New attempts have been made to kill glioma cells with autonomic drugs. Experiments were done with rat C-6 glioma cells in the cell culture. Among all cholinergic blockers tested, only the irreversible cholinergic blockers such as bromoacetylcholine (BrACh), iodoacetylcholine and alphabungarotoxin were effective to inhibit glioma cells (with 50% cytolytic doses of 6.7 x 10(-6)M, 3.0 x 10(-6)M and 7.4 x 10(-5)M respectively). It is interesting to note that the hydrolytic product of BrACh, bromoacetate, was as potent as BrACh to inhibit glioma cells. Most of the adrenergic blockers, both reversible and irreversible ones, showed no cytolytic activity on glioma cells with concentrations up to 1.0 x 10(-4)M except phentolamine and propranolol which showed weak cytolytic activities. It is interesting to note, on the other hand, that 6-hydroxydopamine (an adrenergic neuron degenerating agent) and 5,6-dihydroxytryptamine (a serotonergic neuron degenerating agent) also showed mild cytolytic effects on glioma cells with 50% cytolytic doses of 5.0 x 10(-5)M and 5.3 x 10(-5)M, respectively.

Acetylcholine↗
PubMed2025

Integrative multi-omics analysis proposes a metabolic classification of gliomas: distinct metabolic states, immune infiltration, and prognosis.

BACKGROUND: The tumor microenvironment (TME) of glioma harbors diverse cell types; however, cell metabolic heterogeneity remains to be explored. This study aims to characterize the metabolic features of different cell types in the TME by integrating multiple datasets, including genomics, bulk and single-cell transcriptomics, and metabolomics. METHODS: Unsupervised machine learning was used to construct an energy metabolic classifier based on the metabolic pathways identified from bulk RNA-seq of gliomas in the TCGA dataset. The classifier was externally validated using multiple datasets, including genomics, bulk RNA-seq, snRNA-seq, and the metabolomics data. Furthermore, metabolic heterogeneity associated with the classifier was further characterized at single-cell resolution. RESULTS: The energy metabolism-based classifier stratified patients into two prognostic clusters: patients in cluster 1 were characterized by high pathway activity of glycolysis, the pentose phosphate pathway (PPP), and fatty acid oxidation (FAO), whereas patients in cluster 2 exhibited higher activity in glutaminolysis. This metabolic classifier revealed both intratumoral and intertumoral metabolic heterogeneity, and the complexity was further validated by the metabolomics profiling and snRNA-seq data from the CPTAC dataset. Notably, OSMR, highly expressed in cluster 1, showed significant co-expression with key glycolytic enzyme genes. The OSM/OSMR/JAK1/STAT3 axis potently drives malignant progression of glioma cells, specially enhancing their invasive and migratory capabilities. Single-cell resolution analyses demonstrated that tumor metabolic heterogeneity is primarily driven by malignant cells rather than non-malignant components, while tumor microenvironment (TME) factors were also found to modulate malignant cell metabolism. Significantly, glycolytic activity in glioma cells increased during the phenotypic transition from PN (proneural) to MES (mesenchymal), with cluster 1 metabolic phenotypes predominating in the tumor core. Compared to cluster 2, cluster 1 patients exhibited higher mRNA expression of immunosuppressive checkpoint genes, which correlated with pronounced immunosuppression in the TME. Furthermore, various immune cells demonstrated distinct metabolic preferences at single-cell resolution. CONCLUSIONS: This study developed an energy metabolic-based classifier for gliomas with prognostic and therapeutic potential. Metabolic reprogramming was linked with the PN-to-MES transition of glioma cells and immunosuppression in the tumor microenvironment. Multi-omics data, especially snRNA-seq, offered insights into metabolism heterogeneity at single-cell resolution, enabling personalized treatment strategies.

Humans↗
PubMed1978

Phosphoryl group transfer from Ehrlich cells prelabeled in vivo with (32P)-orthophosphate and (14C)-glucose to unlabeled glioma cells.

A transfer of (32P)-labeled phosphoryl groups has been demonstrated to occur between prelabeled Ehrlich cells (donor cells) and glioma cells (acceptor cells). The Ehrlich cells were generally prelabeled in vivo by an intraabdominal injection of (32P)-orthophosphate 24 hours prior to scarifice of the tumor-bearing mice. In some experiments two injections of (14C)-glucose were given to the animals in addition to the injection of (32P)-orthophosphate prior to sacrifice. The prelabeled Ehrlich cells were mixed with the glioma cells, that were still attached to the culture plates, and incubation took place in vitro. Labeled (32P)-phosphoryl (14C)-serine was isolated from the glioma cells as well as from the Ehrlich cells. The 32P/14C-ratio of (32P)-phosphoryl (14C)-serine of the glioma cells (acceptor cells) was significantly higher than found for the Ehrlich cells (donor cells). This was indicative of an interactive mechanism between the cells partly due to binding of membrane fragments from the Ehrlich cells on to the surface of the glioma cells and partly due to a phosphoryl group transfer between the two types of cells. Interaction experiments with a plasma membrane fraction prepared from the prelabeled Ehrlich cells vis à vis the glioma cells clearly showed that the phosphoryl group transfer mechanism between the cells was dominating and only a minor part of the interaction was due to adhesion. This transphosphorylation reaction represents a new type of interaction between cells. It was not influenced by either adenosine 3', 5'-monophosphate or adenosine 5'-diphosphate.

Animals↗
PubMed2024

Comparative genomic landscape of lower-grade glioma and glioblastoma.

Biomarkers for classifying and grading gliomas have been extensively explored, whereas populations in public databases were mostly Western/European. Based on public databases cannot accurately represent Chinese population. To identify molecular characteristics associated with clinical outcomes of lower-grade glioma (LGG) and glioblastoma (GBM) in the Chinese population, we performed whole-exome sequencing (WES) in 16 LGG and 35 GBM tumor tissues. TP53 (36/51), TERT (31/51), ATRX (16/51), EFGLAM (14/51), and IDH1 (13/51) were the most common genes harboring mutations. IDH1 mutation (c.G395A; p.R132H) was significantly enriched in LGG, whereas PCDHGA10 mutation (c.A265G; p.I89V) in GBM. IDH1-wildtype and PCDHGA10 mutation were significantly related to poor prognosis. IDH1 is an important biomarker in gliomas, whereas PCDHGA10 mutation has not been reported to correlate with gliomas. Different copy number variations (CNVs) and oncogenic signaling pathways were identified between LGG and GBM. Differential genomic landscapes between LGG and GBM were revealed in the Chinese population, and PCDHGA10, for the first time, was identified as the prognostic factor of gliomas. Our results might provide a basis for molecular classification and identification of diagnostic biomarkers and even potential therapeutic targets for gliomas.

Humans↗
PubMed1979

[Mitotic index modifications in a series of gliomas related to degree of malignancy].

We have measured on semi-thin sections, the mitotic index in 5 benign gliomas and 5 malignant gliomas among a whole of about 80,000 cells in each group, divided into fields of 750 cells on an average. We have differentiated between normal mitoses and abnormal mitoses on one hand, between viable and adequate mitoses and non-viable mitoses on the other. If we take into account the total number of mitoses, the mitotic index is not greatly different between the 2 groups of tumors (about 5 per thousand), although slightly superior in the benign gliomas. If we take into account the viable or adequate mitoses only, the mitotic index is greatly superior among the benign gliomas. These results are discussed according to other data related with the kinetics of proliferation of gliomas and according to the possibility of cellular fusions as a process of a minor spreading of malignant gliomas.

Cell Fusion↗
PubMed2009

Directed evolution of adeno-associated virus for glioma cell transduction.

Glioblastoma multiforme (GBM) is a serious form of brain cancer for which there is currently no effective treatment. Alternative strategies such as adeno-associated virus (AAV) vector mediated-genetic modification of brain tumor cells with genes encoding anti-tumor proteins have shown promising results in preclinical models of GBM, although the transduction efficiency of these tumors is often low. As higher transduction efficiency of tumor cells should lead to enhanced therapeutic efficacy, a means to rapidly engineer AAV vectors with improved transduction efficiency for individual tumors is an attractive strategy. Here we tested the possibility of identifying high-efficiency AAV vectors for human U87 glioma cells by selection in culture of a newly constructed chimeric AAV capsid library generated by DNA shuffling of six different AAV cap genes (AAV1, AAV2, AAV5, AAVrh.8, AAV9, AAVrh.10). After seven rounds of selection, we obtained a chimeric AAV capsid that transduces U87 cells at high efficiency (97% at a dose of 10(4) genome copies/cell), and at low doses it was 1.45-1.6-fold better than AAV2, which proved to be the most efficient parental capsid. Interestingly, the new AAV capsid displayed robust gene delivery properties to all glioma cells tested (including primary glioma cells) with relative fluorescence indices ranging from 1- to 14-fold higher than AAV2. The selected vector should be useful for in vitro glioma research when efficient transduction of several cell lines is required, and provides proof-of-concept that an AAV library can be used to generate AAV vectors with enhanced transduction efficiency of glioma cells.

Capsid Proteins↗
PubMed2026

Beyond motor: clinical manifestations of right hemisphere gliomas - a systematic review.

PURPOSE: Right-hemisphere gliomas have traditionally been regarded as less eloquent than left-sided lesions, influencing surgical decision-making and anesthetic approach. However, these tumors produce diverse non-motor manifestations affecting cognition, behavior, and socio-emotional functioning with important consequences for quality of life. This review aimed to characterize these manifestations and their implications for functional eloquence. METHODS: Following PRISMA guidelines, PubMed, Scopus, and Embase were searched using predefined terms for right-hemisphere gliomas and their manifestations. Eligible studies included patients with supratentorial right-hemisphere gliomas reporting motor and/or non-motor clinical manifestations. Studies were excluded if the clinical presentation was incompletely described or if glioma pathology lacked histopathological confirmation. Extracted data included tumor location, histopathology, clinical manifestations, neuropsychological assessments, and functional outcomes. RESULTS: A total of 372 patients from 88 studies were included. Median age was 42 years (range, 11-87), with slight male predominance (49% vs. 48% female). Preoperative non-motor manifestations were common and heterogeneous, most frequently compromising cognition and executive performance (43%), followed by vision and visuospatial deficits (28.4%) and language deficits (24%). Postoperatively, the most common deficits involved language (46%), followed by vision and visuospatial deficits (40%), and cognition and executive dysfunction (23.1%). Analyses relating extent of resection to postoperative deficits were considered exploratory because reporting of extent of resection and postoperative outcome assessment were incomplete and heterogeneous. CONCLUSIONS: Right-hemisphere gliomas carry a substantial and under-recognized burden of non-motor manifestations that challenge conventional definitions of functional eloquence and support the expansion of functional assessment and surgical planning encompassing right-hemisphere cognitive and behavioral networks.

Humans↗
PubMed1977

Immunofluorescence study of lymphocytic infiltration in gliomas. Identification of T-lymphocytes.

Five human brain tumours (3 glioblastomas and 2 astrocytomas) and 5 rat brain tumours induced in Sprague--Dawley animals by systemic administration of N-methyl-N-nitrosourea (3 pleomorphic gliomas and 2 mixed gliomas) were studied. The human brain tumours were surgical specimens excised from patients with no cranial surgery prior to their disease. The experimental brain tumour had been adapted to tissue culture, propagated in vitro and then transplanted to immunocompetent and immunodeficient rats of the same stock. The above-described material was selected in consideration of the mononuclear cell infiltrates occurring in these tumours. Frozen sections of human and rat gliomas, the latter both primary and transplanted, were prepared and investigated as to the presence of T-lymphocytes within the mononuclear round cell infiltrates. This was done with the indirect immunofluorescence method using rabbit antisera against man and rat T-lymphocytes. With this technique a variable percentage of T-lymphocytes was demonstrated in the cell infiltrates of human and rat gliomas alike. The tumour transplanted in thymectomized rats showed only isolated, scattered, positive-reacting cells, i.e., cells recognizable as T-lymphocytes by the above method. The results can be interpreted as circumstantial evidence for the occurrence of tumour-specific and/or tumour-associated antigens in the parenchymal cells of spontaneous and chemically-induced gliomas.

Animals↗
PubMed1975

Cyclic AMP-mediated induction of ornithine decarboxylase of glioma and neuroblastoma cells.

The activity of ornithine decarboxylase (EC 4.1.1.17; L-ornithine carboxy-lyase) of C6-BU-1 glioma and N115 neuroblastoma cells increases significantly when confluent cultures are treated with compounds that increase cellular cAMP levels. These include norepinephrine or isoproterenol, and prostaglandin E1 or adenosine, which stimulate ornithine decarboxylase activity in C6-BU-1 glioma and N115 neuroblastoma cells, respectively. Ornithine decarboxylase activity is also elevated in confluent C6-BU-1 glioma cells treated with dibutyrylcAMP and theophylline, or after the glioma cells are fed with a serum-depleted medium in the presence of catecholamines and inhibitors of cyclic nucleotide phosphodiesterase. The activity of the enzyme increases 500- to 1000-fold, 2-6 hr after stationary-phase N115 neuroblastoma cells are fed with a serum-free medium, supplemented with phosphodiesterase inhibitors, adenosine, or prostaglandin E1. This stimulation is antagonized by carbamoyl choline and is blocked by actinomycin D or cycloheximide. These results suggest that the synthesis of ornithine decarboxylase of C6-BU-1 glioma and N115 neuroblastoma cells is controlled by cAMP.

4-(3-Butoxy-4-methoxybenzyl)-2-imidazolidinone↗
PubMed1977

Secular trends of cerebellar gliomas in children.

Temporal changes in the histologic composition of cerebellar gliomas were examined in a population of 132 children operated on between 1927 and 1968 at The Children's Hospital Medical Center of Boston. Linear trends with time were examined for clinical features, histologic features, and tumor types. We found evidence of an increasing occurrence of glioma A and its associated features during the 41-year study period. This tumor type is associated with a good prognosis and is histologically well defined. Glioma B, a tumor type associated with a poor prognosis, was relatively stable with respect to time and, therefore, differed markedly from glioma A. Foci of oligodendroglia, a glioma A feature, clustered by year of surgery within a relatively short time span. This feature had a survival rate and a male sex proportion quite different from those of the other histologic features investigated.

Cerebellar Neoplasms↗
PubMed2026

Primary mismatch repair deficient glioma, IDH-wildtype and H3-wildtype: A giant cell tumor with potential for long-term survival occurring at all ages.

BACKGROUND: Replication repair deficiency is associated with increased risk of developing malignant gliomas. The aim of this study was to investigate primary mismatch repair deficient gliomas (PMMRDGs), a group of IDH-wildtype and H3-wildtype gliomas that is enriched among patients with CMMRD and Lynch syndrome. METHODS: We investigated how PMMRDGs differ from other gliomas with respect to DNA methylation profile, genomic alterations, histopathology, and clinical outcomes. RESULTS: PMMRDGs occur in pediatric, adolescents and the elderly, falling in two related methylation clusters and are characterized by a high frequency of replication repair deficiency. Histology showed multinucleated giant cells, and immunohistochemistry demonstrated loss of MMR protein expression. Survival analysis revealed long-term survival in patients with high mutational burden (>50 mut/Mb) and an intact chromosome 9p region, which was validated in an independent reference cohort. CONCLUSIONS: Overall, our findings indicate that PMMRDGs represent a distinct type of IDH-wildtype gliomas with potential for long-term survival likely driven by immune activation.

Humans↗