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Journal of Neurosurgical Sciences Feb 2018Ependymoma can arise throughout all compartments of the central nervous system with prevalence for intracranial and spinal location in children and adults, respectively.... (Review)
Review
Ependymoma can arise throughout all compartments of the central nervous system with prevalence for intracranial and spinal location in children and adults, respectively. The current histopathology based WHO grading system distinguishes grade I, II 'classic', and III 'anaplastic' ependymoma. However, analysis of multiple cohorts of intracranial ependymoma demonstrate a wide variance in the utility of the grade II versus grade III distinction as a prognostic marker that may additionally be confounded by the anatomic compartment. Recent (epi)genomic profiling efforts have identified molecularly distinct groups of ependymoma arising from all three anatomic compartments of the central nervous system that outperform the current histopathological classification regarding clinical associations. These advances have led to the cognition that molecular classification should be part of all future clinical trials in ependymoma patients. Clinical management of intracranial ependymomas (WHO Grade II/III) is challenging and molecular classification based risk stratification may help to intensify treatment and surveillance in high-risk patients but to de-escalate therapy in certain patient groups at low risk for recurrence. Finally, experience of neurosurgeons, and other disciplines, as well as intensified co-operation between all stakeholders involved hold promise to finally improve outcome of patients affected with ependymoma.
Topics: Adolescent; Adult; Central Nervous System Neoplasms; Child; Ependymoma; Female; Humans; Incidence; Male; Molecular Epidemiology; Neoplasm Grading; World Health Organization; Young Adult
PubMed: 28895660
DOI: 10.23736/S0390-5616.17.04152-2 -
Indian Journal of Pathology &... 2022Ependymomas are more common in the pediatric population, in whom they are commonly infratentorial. Extra axial location of a supratentorial ependymoma is extremely rare.
INTRODUCTION
Ependymomas are more common in the pediatric population, in whom they are commonly infratentorial. Extra axial location of a supratentorial ependymoma is extremely rare.
DIAGNOSIS
Radiologically these tumors are often misdiagnosed as meningioma or other extra axial lesions owing to their unusual location and lack of any pathognomonic features. Hence, histopathological examination becomes imperative for proper evaluation and an adequate diagnosis.
CASE
Herein we report a case of a supratentorial extra axial anaplastic ependymoma misdiagnosed as a metastatic tumor on radiological examination and mimicking meningioma intra operatively, located in the frontal and temporal region in a 20 year old man.
Topics: Adult; Child; Ependymoma; Humans; Male; Meningeal Neoplasms; Meningioma; Supratentorial Neoplasms; Young Adult
PubMed: 35900497
DOI: 10.4103/ijpm.ijpm_372_21 -
APMIS : Acta Pathologica,... Apr 2005A 76-year-old woman presented with a large calcifying mass behind the bladder. The tumor contained solid areas of a yellowish white color. Microscopic examination...
A 76-year-old woman presented with a large calcifying mass behind the bladder. The tumor contained solid areas of a yellowish white color. Microscopic examination revealed highly cellular solid areas with many typical ependymal perivascular pseudorosettes. The cells contained uniform round-to-oval nuclei, some of which had irregular contours, clumped chromatin and occasional prominent nucleoli. There was widespread geographic necrosis and there were 5 atypical mitotic figures per 10 high power fields. Glial fibrillary acidic protein (GFAP) immunopositivity was observed in the cytoplasm of the tumor cells. Based on the histopathologic and immunohistochemical features, the tumor was diagnosed as an anaplastic ependymoma. This is to the best of our knowledge only the second case of anaplastic ependymoma in the medical literature.
Topics: Aged; Ependymoma; Female; Glial Fibrillary Acidic Protein; Humans; Immunohistochemistry; Ovarian Neoplasms
PubMed: 15865613
DOI: 10.1111/j.1600-0463.2005.apm_10.x -
Child's Nervous System : ChNS :... Apr 2006Rasmussen's encephalitis (RE) is a form of chronic encephalitis presenting with intractable seizures and progressive neurological deficits in children. The occurrence of... (Review)
Review
BACKGROUND
Rasmussen's encephalitis (RE) is a form of chronic encephalitis presenting with intractable seizures and progressive neurological deficits in children. The occurrence of anaplastic ependymoma in a diagnosed case of RE has not been reported in the literature.
CASE REPORT
We report an eight and a half year-old boy, a diagnosed case of RE, suffering from intractable right-sided focal seizures, who developed features of raised intracranial pressure during follow-up. Repeat imaging revealed left fronto-temporoparietal mass for which near-total decompression was done. Histopathology of the mass revealed anaplastic ependymoma.
CONCLUSION
The etiology of such a co-existence or development of malignancy in a pre-existing RE is yet to be completely understood. Both these entities could have a common etiology of viral- or autoimmune-mediated process, but no definite conclusion can be drawn with all the literature available at the moment.
Topics: Atrophy; Brain Neoplasms; Cerebral Cortex; Child; Child, Preschool; Encephalitis; Ependymoma; Humans; Infant; Male; Tomography, X-Ray Computed
PubMed: 15928965
DOI: 10.1007/s00381-005-1170-0 -
F1000Research 2019Ependymomas are glial tumors derived from differentiated ependymal cells. In contrast to other types of brain tumors, histological grading is not a good prognostic...
Ependymomas are glial tumors derived from differentiated ependymal cells. In contrast to other types of brain tumors, histological grading is not a good prognostic marker for these tumors. In order to determine genomic changes in an anaplastic ependymoma, we analyzed its mutation patterns by next generation sequencing (NGS). Tumor DNA was sequenced using an Ion PI v3 chip on Ion Proton instrument and the data were analyzed by Ion Reporter 5.6. NGS analysis identified 19 variants, of which four were previously reported missense variants; c.395G>A in , c.1173A>G in , c.1416A>T in and c.215C>G in . The frequencies of the three missense mutations ( c.1173A>G, c.1416A>T, , c.215C>G) were high, suggesting that these are germline variants, whereas the variant frequency was low (4.81%). However, based on its FATHMM score of 0.94, only the variant is pathogenic; other variants , and had FATHMM scores of 0.22, 0.56 and 0.07, respectively. Eight synonymous mutations were found in , , , , , , and genes. The mutation in p.(Val592Val) was the only novel variant found. Additionally, two known intronic variants in were found and intronic variants were also found in and . A known splice site mutation at an acceptor site in , a 3'-UTR variant in the gene and a 5'_UTR variant in the gene were also identified. The p-values were below 0.00001 for all variants and the average coverage for all variants was around 2000x. In this grade III ependymoma, one novel synonymous mutation and one deleterious missense mutation is reported. Many of the variants reported here have not been detected in ependymal tumors by NGS analysis previously and we therefore report these variants in brain tissue for the first time.
Topics: Brain Neoplasms; DNA Mutational Analysis; Ependymoma; High-Throughput Nucleotide Sequencing; Humans; Mutation
PubMed: 32612806
DOI: 10.12688/f1000research.18721.2 -
Molecular Cancer Research : MCR Jun 2009Pediatric ependymomas are enigmatic tumors that continue to present a clinical management challenge despite advances in neurosurgery, neuroimaging techniques, and... (Meta-Analysis)
Meta-Analysis Review
Pediatric ependymomas are enigmatic tumors that continue to present a clinical management challenge despite advances in neurosurgery, neuroimaging techniques, and radiation therapy. Difficulty in predicting tumor behavior from clinical and histological factors has shifted the focus to the molecular and cellular biology of ependymoma in order to identify new correlates of disease outcome and novel therapeutic targets. This article reviews our current understanding of pediatric ependymoma biology and includes a meta-analysis of all comparative genomic hybridization (CGH) studies done on primary ependymomas to date, examining more than 300 tumors. From this meta-analysis and a review of the literature, we show that ependymomas in children exhibit a different genomic profile to those in adults and reinforce the evidence that ependymomas from different locations within the central nervous system (CNS) are distinguishable at a genomic level. Potential biological markers of prognosis in pediatric ependymoma are assessed and the ependymoma cancer stem cell hypothesis is highlighted with respect to tumor resistance and recurrence. We also discuss the shifting paradigm for treatment modalities in ependymoma that target molecular alterations in tumor-initiating cell populations.
Topics: Adolescent; Biomarkers, Tumor; Child; Child, Preschool; Comparative Genomic Hybridization; Ependymoma; Genomics; Humans; Infant
PubMed: 19531565
DOI: 10.1158/1541-7786.MCR-08-0584 -
Journal of Neurosurgical Sciences Mar 2000The spinal seeding from brain tumors sometimes mimicks fungal meningitis on examination of cerebrospinal fluid. (Review)
Review
BACKGROUND
The spinal seeding from brain tumors sometimes mimicks fungal meningitis on examination of cerebrospinal fluid.
METHODS AND RESULTS
A 19-year-old woman gradually developed increased intracranial hypertension. MRI identified a mass in the right parieto-occipital area. It was totally removed and histologically diagnosed as an anaplastic ependymoma. Radiation- and chemotherapy were administered postoperatively. The patient reported low back pain 5 months after the surgical treatment. MRI disclosed neither spinal dissemination nor tumor recurrence at the primary site. Lumbar puncture was performed and the cerebrospinal fluid (CSF) was found to have an extremely low glucose level (5 mg/dl); no tumor cells were identified. Blood samples were obtained and a relative increase of WBC and CRP was noted. A slight degree of inflammation and low-grade fever were recorded. A tentative diagnosis of fungal meningitis was made and anti-fungal therapy was administered transventricularly and transvenously. However, her neurological condition continued to deteriorate gradually. Sequential CSF studies showed that the glucose level remained extremely low, it even decreased to 0 mg/dl Eight months after the surgical treatment, MRI with Gd-DTPA revealed marked subarachnoid enhancement in both intracranial and spinal areas. An open biopsy was performed and a histological diagnosis of intracranial and spinal seeding of the anaplastic ependymoma was returned.
CONCLUSIONS
We report a patient with intracranial and spinal seeding of an anaplastic ependymoma that mimicked fungal meningitis. We discuss the difficulty of obtaining a differential diagnosis in this case and describe the mechanism of the decreased CSF glucose level.
Topics: Adult; Ependymoma; Female; Glucose; Humans; Magnetic Resonance Imaging; Meningeal Neoplasms; Meningitis, Fungal; Neoplasm Seeding
PubMed: 10961497
DOI: No ID Found -
Neoplasma Jan 2021Ependymoma (EPN) is a type of tumor that occurs in the central nervous system of children and adults. EPN produces resistance to chemotherapy, and there are no targeted...
Ependymoma (EPN) is a type of tumor that occurs in the central nervous system of children and adults. EPN produces resistance to chemotherapy, and there are no targeted drugs available as a proper cure. Therefore, the use of high-throughput sequencing technologies to elucidate pathogenic mechanisms is of prime importance to identify potential tumor target genes helpful for developing effective therapeutic approaches against EPN. With this objective, we used RNA-seq analysis to identify differentially expressed genes (DEGs) and pathways in 4 pairs of EPN tissues and adjacent tissues. In total, we found 5,445 differentially expressed genes. The synaptic vesicle cycle and extracellular matrix (ECM) receptor interaction pathways were highly enriched in the ependymoma group. Nine differentially expressed genes (SNAP25, GRM4, CELSR1, LAMA1, WNT5A, ROR2, CCND1, EPHB2, FOXJ1) were randomly verified by RT-qPCR, supporting the authenticity of our sequencing results. This study provides global gene information and some new potential biomarkers for the diagnosis and therapeutic targets of ependymoma.
Topics: Adult; Central Nervous System Neoplasms; Child; Ependymoma; Gene Expression Profiling; High-Throughput Nucleotide Sequencing; Humans; Transcriptome
PubMed: 32940047
DOI: 10.4149/neo_2020_200529N581 -
Turkish Neurosurgery 2023To establish a model of intracranial and spinal cord anaplastic ependymomas, and to find out their independent prognostic factors.
AIM
To establish a model of intracranial and spinal cord anaplastic ependymomas, and to find out their independent prognostic factors.
MATERIAL AND METHODS
Data from 305 patients with anaplastic ependymoma in the brain and spinal cord from the Surveillance, Epidemiology, and End Results (SEER) database between 1988 and 2015 were retrospectively extracted and analyzed using the R software. Statistical significance indicators were identified using the Cox regression analysis. The nomogram visualized the model and was corrected using the concordance index (C-index), area under the curve (AUC), and calibration curve.
RESULTS
Analysis revealed that age and treatment were found to be of statistical significance in this study. On the basis of the results of the present study, the model's C-index was 0.777 and the AUC value of the time-dependent receiver operating characteristic curve at 2, 3, and 5 years were 0.758, 0.775, and 0.788, respectively, demonstrating a decent discriminatory ability. Finally, a nomogram was constructed and validated using a validation curve.
CONCLUSION
In summary, the present study revealed the two risk factors (including age and treatment) as independent prognostic factors for patients with anaplastic ependymoma in the spinal cord and brain. The suggested model can accurately assess the disease-specific survival rate of these patients and can provide recommendations for optimal treatment options.
Topics: Humans; Nomograms; Retrospective Studies; Brain; Ependymoma; Spinal Cord Neoplasms
PubMed: 36622192
DOI: 10.5137/1019-5149.JTN.41103-22.1 -
Medical and Pediatric Oncology Nov 2003
Topics: Adolescent; Biopsy, Needle; Brain Neoplasms; Disease Progression; Ependymoma; Fatal Outcome; Humans; Immunohistochemistry; Lung Neoplasms; Male; Neoplasm Staging; Pleural Effusion, Malignant; Recurrence; Respiratory Insufficiency; Tomography, X-Ray Computed
PubMed: 14515389
DOI: 10.1002/mpo.10379