Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “CNS tumors”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed2026

Cross-Platform Concordance in DNA Methylation Based Classification of CNS Tumors.

DNA methylation profiling enables precise classification of pediatric central nervous system (CNS) tumors. Oxford Nanopore Technologies (ONT) offers same-day, single-sample methylation readouts, but its concordance with Illumina EPIC arrays in routine diagnostic tasks remains incompletely defined. We profiled 23 pediatric tumors (18 CNS, 5 non-CNS) by EPIC arrays and ONT. Methylation profiles from both platforms were classified with crossNN (brain model or pan-cancer model); ONT data were additionally classified with Rapid-CNS2 and Sturgeon. We compared (i) classifier agreement with integrated histology (w/o NGS) at family/class levels, (ii) pass-rate above platform-specific score cutoffs, (iii) cross-platform concordance of copy-number variation (CNV), and MGMT promoter methylation status. In CNS cases, ONT and EPIC methylation profiles demonstrated strong correlation, except for a single outlier (P2), which was excluded from further analysis. Comparative assessment of the two platforms showed that: (a) Molecular classification of CNS tumors using the crossNN classifier was consistent with histology (w/o NGS) at the family level in all cases. (b) Copy-number profiles showed high concordance between platforms. (c) MGMT promoter methylation status matched in 94% of cases (16/17). When comparing ONT-specific analysis pipelines using the ONT data, the Rapid-CNS2 pipeline yielded the most reliable class level assignments with 94% (16/17) concordance with the histopathological diagnosis, which marginally exceeded the crossNN and sturgeon classifiers. In non-CNS tumors, the pan-cancer model produced low-confidence outputs with poor agreement with histology (w/o NGS) (only 1/5 concordant), indicating limited readiness for these entities. In conclusion, ONT enables same-day, clinically reliable family-level CNS tumor classification with high concordance to arrays, while EPIC retains a modest class-level edge. A key limitation of ONT is its reliance on fresh-frozen DNA and on classifiers originally built around array-derived CpG sites, rather than on models developed natively from ONT data.

DNA methylation↗
PubMed2026

"Updates on diagnostic and prognostic molecular biomarkers of CNS tumors".

The diagnosis and classification of central nervous system (CNS) tumors has undergone a paradigm shift over the past decade, evolving from a purely histology-based approach to an integrated framework that incorporates molecular and epigenetic features. This review summarizes recent updates in key genomic and epigenomic biomarkers across major CNS tumor categories, with a focus on their diagnostic, prognostic, and therapeutic implications. DNA methylation profiling has emerged as a valuable tool for tumor classification, subgrouping, and grading, complementing traditional histopathologic assessment. Across diffuse gliomas, newly characterized molecular alterations have refined grading criteria and clarified the boundaries between tumor types, including important caveats about the use of individual molecular features as sole diagnostic criteria. In ependymomas, medulloblastomas, atypical teratoid/rhabdoid tumors, meningiomas, pineal tumors, and embryonal tumors, methylation profiling now defines biologically and clinically meaningful subgroups that inform risk stratification and treatment selection. The emerging recognition of mismatch repair-deficient gliomas and fusion-driven tumor entities further underscores the expanding complexity of CNS tumor taxonomy. As molecular technologies continue to advance, the integration of genomic, epigenomic, histopathologic, and clinical data will be essential to improving diagnostic precision, guiding therapy, and ultimately enhancing patient outcomes.

Embryonal↗
PubMed2026

A MAGIBU-based model for pediatric and juvenile CNS tumors: an in-house epigenetic decision-support framework compared with online DNA methylation classifiers.

Background: DNA methylation profiling is a tool that provides key support for central nervous system (CNS) tumor classification. However, diagnostically ambiguous pediatric cases may result in discordant outputs across classifiers. We developed MAGIBU, a cross-platform, projection-based framework that embeds individual methylomes into a fixed CNS reference landscape, ranking diagnostic entities by local epigenetic proximity to support clinician-led integrative diagnosis. Methods: As a proof-of-concept, we evaluated MAGIBU in eight morphologically challenging pediatric/juvenile CNS tumors with unresolved diagnoses after institutional and central pathology review. To establish a benchmark in the absence of a definitive histopathological ground truth, a consensus epigenetic reference was defined a priori for cases showing concordant results between the Heidelberg CNS Tumor Methylation Classifier and Methylscape Analysis. Comparisons were also performed with Epigenomic Digital Pathology (EpiDiP). To validate MAGIBU beyond this discovery cohort, performance was assessed at the family level across the CNS methylation spectrum (n = 678, 28 methylation families), on non-array platforms (whole-genome bisulfite sequencing and Oxford Nanopore), and in a focused analysis of the low-grade glioma and diffuse midline glioma compartment across four independent cohorts (n = 670). Results: In the discovery cohort, MAGIBU achieved high concordance with the consensus reference (Cohen's κ = 0.855), outperforming EpiDiP (κ = 0.278), which frequently placed low-grade tumors in proximity to higher-grade reference regions. Conclusions: MAGIBU provides a stable, quantitative differential diagnosis framework that mitigates the limitations of rigid categorical assignments. By leveraging a distance-based proximity metric, it offers a transparent decision-support tool that integrates effectively with clinical, radiological, and molecular data. While performance is inherently dependent on reference atlas composition, MAGIBU represents a robust complementary approach for the diagnostic workup of ambiguous CNS tumors.

Brain↗
PubMed1979

The immunocytochemical localization of GFA protein in experimental murine CNS tumors.

Immunocytochemical localization of GFA protein in formalin-fixed, paraffin-embedded tissue sections by the peroxidase-antiperoxidase method of Sternberger was used to study experimental murine CNS tumors. Transplacental tumor induction in rats by ethylnitrosourea produced oligodendrogliomas and mixed gliomas in the cerebrum and spinal cord, and malignant Schwannomas of the trigeminal nerve. A methylcholanthrene-induced mouse "ependymoblastoma" inoculated intracerebrally in normal and in toxoplasma-infected mice was also studied. A positive reaction of GFA protein antibody was seen in the astrocytic portion of the mixed gliomas; the oligodendrogliomas, the malignant Schwannomas and the mouse "ependymoblastoma" were negative. Staining for GFA protein delineated the astrocytic reaction of neural tissue adjacent to the tumors. The reaction was markedly intensified in the brains of mice infected with toxoplasma. Additionally, ependymal cells near the tumors stained positively for GFA protein; normal ependyma at a distance from tumor remained negative. The technique, which combines a high degree of specificity with great sensitivity and is readily adaptable to routinely processed tissue, should prove a valuable tool in experimental oncology of the central nervous system.

Animals↗
PubMed2026

Methylation profiling in CNS tumor diagnostics: a single-centre real-world experience from Central Europe.

Genome-wide DNA methylation profiling has transformed neuro-oncology by providing an objective, machine learning-based taxonomy that mitigates interobserver variability and refines the histo-molecular criteria of the current WHO classification. We evaluate the real-world diagnostic performance and clinical utility of this modality in a prospective, consecutively accrued three-year cohort of 291 central nervous system (CNS) tumors across a mixed adult-pediatric population. Successful profiling was completed in 95.9% of cases. Using the Epignostix classifier, a high-confidence diagnostic match (calibrated score [CS]&#x2009;&#x2265;&#x2009;0.84) was achieved in 70.3% of analyzable samples, while 26.5% returned lower-confidence scores (&#x2265;&#x2009;0.3 to <&#x2009;0.84) and only 3.2% remained completely unclassifiable (CS&#x2009;<&#x2009;0.3). When integrated into a comprehensive diagnostic framework, methylation profiling provided clinically useful results in 81.1% of cases, establishing diagnoses in 70 cases submitted for molecular subclassification and resolving diagnostic uncertainty or prompting major revisions in 149 histologically challenging tumors. Within truly ambiguous lesions, integration of methylome data dictated tumor grade modifications in 38.8% of cases (upgrading in 29.4% and downgrading in 9.4%), shifting patient risk stratification. Crucially, over half (52.7%) of the lower-confidence cases yielded meaningful clinical integration when supported by histomorphology and ancillary genetic or immunohistochemical markers, demonstrating that rigid score cutoffs should not dictate assay failure. Discrepant or misleading classifications occurred in 1.9%. Updating bioinformatic pipelines from version 11b4 to 12.8 rescued multiple ambiguous entries, increasing overall clinical utility to 84.1%. These findings demonstrate that integrating computational epigenomics with classical neuropathology enhances diagnostic precision, while highlighting the ongoing need for careful clinical-pathological correlation.

Central nervous system tumors↗
PubMed1978

[Conservative therapy of CNS-tumors in children. I. Intrduction (author's transl)].

A successful conservative therapy of brain tumors presupposes an early diagnosis as well as radical tumor removal as far as possible. The previously unisatisfactory results of treatment are still often attributable to late diagnosis. With new diagnostic methods of low risk, e.g. computerized tomography, an earlier begin of therapy should be attainable. Improved results of treatment can be expected only by the cooperation of all regional centers in prospective therapy studies and continuous cooperation of all faculties involved.

Age Factors↗
PubMed1977

Lysozyme activity in cerebrospinal fluid. Studies in inflammatory and non-inflammatory CNS disorders.

Lysozyme activity was measured in cerebrospinal fluid (CSF) from 114 patients with inflammatory (bacterial and serous meningitis, polyradiculitis, encephalitis) and non-inflammatory (multiple sclerosis, CNS tumors, cerebral vascular diseases) CNS diseases. Highly elevated values were found consistently in patients with bacterial meningitis. Elevated values were found also in patients with encephalitis, polyradiculitis, multiple sclerosis and CNS tumors, but a considerable overlapping between these groups and normal controls precludes the use of CSF lysozyme measurements as a diagnostic aid in the latter disease groups. Simultaneous measurements of lysozyme, albumin and IgG in CSF and serum suggested that the mechanism for increased CSF lysozyme values in bacterial meningitis is mainly a breakdown of the blood/brain barrier, whereas the increased CSF lysozyme values in the remaining groups of patients are more likely caused by production of lysozyme by cells within the meninges (neutrophilic granulocytes, monocytes?).

Blood-Brain Barrier↗
PubMed1977

The ethnic distribution of primary central nervous system tumors: AFIP, 1958 to 1970.

A retrospective ethnic study was made of 16,311 cases of primary central nervous system (CNS) tumors seen at the Armed Forces Institute of Pathology (AFIP), Washington, D.C., from 1958 to 1970. Results showed a considerably higher Caucasian:Negro (C:N) case ratio (13.7:1) than the C:N population ratio (8.4:1), indicating a higher relative frequency of primary CNS tumors in American Caucasians as compared to American Negroes. The glioma was significantly more frequent in Caucasians than in Negroes (p less than 0.005). In contrast, Negroes had an excess of the pituitary adenoma as compared to Caucasians (P less than 0.01). The proportional frequencies of the meningioma and the nerve sheath tumor were also higher in Negroes than in Caucasians. When this pattern of the tumor distribution of American Negroes was compared to that of African Negroes (a composite African series), the preponderance of the pituitary adenoma and the meningioma and the relative paucity of the glioma in the Negro race as compared to Caucasians were again confirmed. The differences in the relative frequency and the tumor distribution between American Negroes and Caucasians and the considerable similarity of the tumor distribution between American and African Negroes emphasize the importance of genetic factors in the development of at least some primary CNS tumors.

Adolescent↗
PubMed1979

Biochemical markers of central nervous system tumors measured in cerebrospinal fluid and their potential use in diagnosis and patient management: a review.

The concept of tumor markers was reviewed, and the potential uses of markers of central nervous system (CNS) tumors and methods for their evaluation were discussed. Markers examined included lactate dehydrogenase, aspartate aminotransferase, fructose-bisphosphate aldolase, the polyamines, desmosterol, and several other enzymatic, nonenzymatic, and immunologic markers. Data collated from the clinical studies surveyed showed isocitrate dehydrogenase, desmosterol, and the polyamines to have the greatest potential utility in the diagnosis of CNS tumors.

Antigens, Neoplasm↗
PubMed1978

Distribution of beta2-microglobulin in cerebrospinal fluid and in cystic fluid of brain tumors. A preliminary study.

The concentrations of immuno-reactive beta2-microglobulin (beta2m) were measured in the cerebrospinal fluid (CSF) and the cystic fluid (CF) of Central Nervous System (CNS) tumours (gliomas, n = 5; craniopharyngiomas, n = 5) and in the culture medium of established cell lines derived from CNS tumors. These data are compared with plasma and CSF values of beta2m in normal subjects (n = 15) and in a group of peripheral solid tumors (metastatic breast carcinomas, n = 9). In the control group the absence of correlation between plasma and CSF values, suggests an independant production of beta2m in the two compartments considered. The capacity of CNS tumor cells to synthesize beta2m is demonstrated in vitro. In vitro beta-2m concentrations in the CF embryonic tumors (craniopharyngiomas) is significantly more elevated than in non malignant astrocytomas.

Beta-Globulins↗
PubMed2026

Spinal low-grade ependymal tumors harboring telomerase reverse transcriptase promoter mutation and chromosome 7 gain with methylation profile of spinal subependymoma.

Spinal intramedullary tumors comprise a heterogeneous group of entities with diverse histopathological features, making their diagnosis particularly challenging. With the introduction of DNA methylation profiling, the underlying biological diversity of these tumors has been increasingly clarified and systematized; however, owing to the rarity of these tumors, case accumulation remains limited, and significant challenges persist. In this study, we identified two cases of spinal ependymal tumors exhibiting a methylation profile of spinal (SP-) subependymoma (SEPN). Both cases occurred in elderly patients and demonstrated circumscribed growth consistent with low-grade ependymal tumors; however, these tumors did not exhibit the typical histopathological features required for a diagnosis of SEPN in the 2021 WHO classification of central nervous system (CNS) tumors, showing indistinct cluster formation, an astrocytic immunohistochemical profile suggested by Olig2 expression, and relatively elevated Ki-67 labeling indices of 4.5% and 3.1%. At the molecular level, both cases harbored telomerase reverse transcriptase promoter mutations and whole chromosome 7 gain. On two-dimensional t-distributed stochastic neighbor embedding analysis, both clustered within the SP-SEPN methylation class at its periphery, with low classifier calibration scores (0.70 and 0.69). According to the current WHO classification, these cases are designated as low-grade ependymal tumors (CNS WHO grade 2) with methylation profile of SP-SEPN because they do not meet the essential WHO histopathological criteria. Ependymal tumors exhibiting a methylation profile consistent with SEPN, but discordant histopathological features have been increasingly recognized, and the appropriate classification of such tumors remains a subject of ongoing debate. These cases provide important insights into the histopathological diversity of ependymal tumors and contribute to establishing a more comprehensive and systematic classification of ependymal tumors.

Aged↗
PubMedDate not supplied

Cytologic diagnosis of pineal germinoma in cerebrospinal fluid and sputum.

The cytologic findings in an unusual case of primary germinoma of the pineal region which metastasized to the lungs are presented and compared with those in a case of typical testicular seminoma metastatic to the central nervous system (CNS). Tumor cells in Papanicolaou- or Wright's-stained cytocentrifuge preparations and Papanicolaou-stained sputum smears could all be readily compared to biopsies of the primary tumors. Large round nuclei with dispersed chromatin and multiple, prominent nucleoli were important identifying features. The cytoplasm was usually scanty and often vacuolated. Human chorionic gonadotropin (HCG) (8 ng/ml of the beta subunit) appeared in the cerebrospinal fluid (CSF) of the patient with pineal germinoma, indicating that trophoblasts were present in the tumor even though none were seen in the biopsy or cytologic preparations. CSF polyamine levels, a test with 81% sensitivity and 66% specificity for brain tumors, were normal in the same patient. A comparison of tumor cells from both cases illustrates the similarity of germinoma cells from pineal primary tumors and testicular tumors metastic to the CNS. Although the identification of malignant germ cells in body fluids remains a grave prognostic sign, treatment with vincristine, bleomycin and cis-platinum is now inducing progressively longer remissions. Cytology should play an increasingly greater role in monitoring disease activity in patients receiving long-term treatment for malignant germ cell tumors in all locations.

Adult↗
PubMed1978

Combination chemotherapy with MOPP in children with recurrent brain tumors.

Twenty-three children with CNS tumors were treated with combination chemotherapy including nitrogen mustard, vincristine sulfate, procarbazine, and prednisone (MOPP). All but one had progressive or recurrent tumors following surgery and irradiation. In addition, nine of these patients had prior chemotherapy. Seventeen out of 23 patients (73.4%) responded to MOPP chemotherapy including seven patients who had prior chemotherapy with single or multiple agents such as VCR, nitrosoureas, intrathecal methotrexate, and VM-26. Three comatose patients who were being kept on Decadron without benefit recovered from coma. At the time of this report 8 of the 17 responders are surviving without evidence of recurrence 7--30 months from the start of MOPP chemotherapy. In two of these children chemotherapy has been completely stopped.

Adolescent↗
PubMed1975

Radiation therapy of tumors of the central nervous system in childhood.

The results of radiation therapy for CNS tumors of childhood are presented and discussed according to histologic type. In this material the 5-year recurrence-free survival rates were about 35% for medulloblastomas, 48% for the hypothalamic and brain stem tumors, 86% for lowgrade ependymomas, and 57% for germinomas. Complications or CNS injury from irradiation were rare and the quality of life in survivors was generally good. Current methods of radiation therapy may possibly improve these results. Tumors of the CNS in children do not necessarily carry a hopeless prognosis; aggressive therapy is indicated.

Astrocytoma↗
PubMed1976

Neurologic manifestations of glomus tumors in the head and neck.

In 75 patients with glomus tumors in the head and neck region, 57 tumors arose from the jugular bulb region, 11 from the middle ear, and seven from the vagus nerve. Thirty-seven percent (28 patients) had cranial nerve paralysis, and 14.6% (11) had intracranial tumor extension. The jugular foramen syndrome was associated with a 50% (two of four patients) incidence, and hypoglossal nerve paralysis with a 75% (three of four) incidence of posterior fossa tumor invasion. Horner syndrome and labyrinthine destruction had a 50% (two of four) incidence of a middle cranial fossa tumor invasion. The incidence of central nervous system (CNS) invasion with cranial nerve paralysis (excluding the seventh nerve) was 52% (11 of 21). Otologic findings and seventh nerve paralysis did not correlate with CNS tumor extension.

Abducens Nerve↗
PubMed1976

Treatment of Burkitt's lymphoma: randomized clinical trial of single-agent versus combination chemotherapy.

A randomized clinical trial designed to compare the effectiveness of cytoxan (CTX) alone versus a combination consisting of CTX, vincristine (Oncovin) and methotrexate (COM) in the treatment of Burkitt's lymphoma (BL) was carried out. Nineteen patients were selected at random to receive CTX alone while 21 received COM. The two treatment regimens were equally effective in inducing remissions, and complete response rates of 83.3% and 84.3% were observed for CTX- and COM-treated patients, respectively. The relapse frequencies were also equal but the pattern of relapse was clearly different. Seven out of 8 (87.5%) in the CTX group relapsed with systemic and central nervous system (CNS) tumor, while 8 out of 10 (80%) in the COM group relapsed with CNS disease only. This difference is highly significant p = 0.008. The remission durations and survival to date are the same.

Burkitt Lymphoma↗
PubMed1977

Short and long term effects of methyl- and ethylnitrosourea (MNU & ENU) on the developing nervous system of the rat. I. Long term effects: the induction of (multiple) gliomas.

Single injections on ENU to WAG-rats were given in the perinatal period and repeated injections of MNU to adult WAG-rats. In the tables illustrating the various experiments, the occurrence of tumors is given for each animal; the tumors are classified according to their sites. For the brain tumors a subdivision is made between those macroscopically visible and those discovered only under microscopy. It is noteworthy that the ratio between neural and extraneural tumors in the perinatally exposed animals is rather constant (about 90 and 10 per cent, respectively). In the experiments on young adult rats neural tumors still predominate, but estraneural ones rise to about 40 per cent. The incidence of neural tumors is impressively high in perinatal induction experiments (greater than 95 per cent). Almost all CNS tumors showed the characteristics of oligodendrogliomas; highly differentiated in the smaller tumors and more anaplastic with regressive changes in the larger ones.

Age Factors↗