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Child's Nervous System : ChNS :... Aug 2021Pediatric ependymomas comprise biologically distinct tumor entities with different (epi)genetics, age distribution and localization, as well as a different prognosis.... (Review)
Review
Pediatric ependymomas comprise biologically distinct tumor entities with different (epi)genetics, age distribution and localization, as well as a different prognosis. Regarding risk stratification within these biologically defined entities, histopathological features still seem to be relevant. The mainstay of treatment is gross total resection (GTR) if possible, achieved with intraoperative monitoring and neuronavigation-and if necessary second surgery-followed by adjuvant radiation therapy. However, there is growing evidence that some ependymal tumors may be cured by surgery alone, while others relapse despite adjuvant treatment. To date, the role of chemotherapy is not clear. Current therapy achieves reasonable survival rates for the majority of ependymoma patients. The next challenge is to go beyond initial tumor control and use risk-adapted therapy to reduce secondary effect and therapy-induced morbidity for low-risk patients and to intensify treatment for high-risk patients. With identification of specific alterations, targeted therapy may represent an option for individualized treatment modalities in the future.
Topics: Child; Ependymoma; Humans; Morbidity; Neoplasm Recurrence, Local; Prognosis; Survival Rate
PubMed: 34008056
DOI: 10.1007/s00381-021-05207-7 -
Expert Review of Neurotherapeutics Oct 2013Ependymomas are among the most challenging childhood brain tumors. Although 50-70% of ependymomas are cured with surgery and irradiation, a significant percentage of... (Review)
Review
Ependymomas are among the most challenging childhood brain tumors. Although 50-70% of ependymomas are cured with surgery and irradiation, a significant percentage of tumors recur. Ependymomas that are not amenable to complete resection at diagnosis have a particularly poor prognosis, and the vast majority of affected children experience tumor recurrence. Although transient responses have been observed in recurrent tumors treated with re-irradiation and several chemotherapy regimens, long-term disease control is rarely achieved. Children with recurrent disease commonly experience cumulative neurological morbidity from repeated surgical and adjuvant therapy interventions and almost universally succumb to refractory tumor progression. Accordingly, conceptually new treatment approaches are needed, both to decrease the risk of tumor recurrence and to enhance disease control in those children who experience recurrent disease. This article reviews the current application of risk-based treatment stratification at diagnosis, the rationale for exploring the role of novel therapeutic strategies such as immunotherapy at recurrence and the concept behind a vaccine-based trial for these tumors.
Topics: Brain Neoplasms; Cancer Vaccines; Ependymoma; Humans; Immunotherapy
PubMed: 24117271
DOI: 10.1586/14737175.2013.840420 -
Nature Neuroscience May 2023The spatiotemporal regulation of cell fate specification in the human developing spinal cord remains largely unknown. In this study, by performing integrated analysis of...
The spatiotemporal regulation of cell fate specification in the human developing spinal cord remains largely unknown. In this study, by performing integrated analysis of single-cell and spatial multi-omics data, we used 16 prenatal human samples to create a comprehensive developmental cell atlas of the spinal cord during post-conceptional weeks 5-12. This revealed how the cell fate commitment of neural progenitor cells and their spatial positioning are spatiotemporally regulated by specific gene sets. We identified unique events in human spinal cord development relative to rodents, including earlier quiescence of active neural stem cells, differential regulation of cell differentiation and distinct spatiotemporal genetic regulation of cell fate choices. In addition, by integrating our atlas with pediatric ependymomas data, we identified specific molecular signatures and lineage-specific genes of cancer stem cells during progression. Thus, we delineate spatiotemporal genetic regulation of human spinal cord development and leverage these data to gain disease insight.
Topics: Child; Female; Pregnancy; Humans; Spinal Cord; Ependymoma; Cell Differentiation; Neural Stem Cells; Gene Expression; Gene Expression Profiling; Gene Expression Regulation, Developmental
PubMed: 37095395
DOI: 10.1038/s41593-023-01312-9 -
CNS Oncology Jan 2014Electron microscopy is a useful diagnostic technique in order to confirm or establish a definitive diagnosis in brain tumors that may have an atypical histological... (Review)
Review
Electron microscopy is a useful diagnostic technique in order to confirm or establish a definitive diagnosis in brain tumors that may have an atypical histological pattern, which requires a concrete diagnosis. In ependymomas, electron microscopy reveals morphological characters that have a pathognomonic diagnostic value, therefore allowing a definitive diagnosis. The main fine structural criteria of ependymomas consist of the numerous microvilli and cilia, which are incorporated in the cell body or extended freely in the intracellular space; the centriole or blepharoplast, which is located in the basis of the cilia; the large number of the fragmented microtubules in the perikaryon and the cellular processes (any small cellular projection into the neutrophil or intracellular space); the junctional apparatus between the cells, such as zonula adherens, zonula occludens and puncta adherentia; the basement membrane-like structure, seen in papillary ependymomas and ependymomas of the filum terminale; and the elongated cells in the loose intracellular space, commonly seen in myxopapillary ependymomas.
Topics: Brain; Cauda Equina; Central Nervous System Neoplasms; Cilia; Ependymoma; Humans; Microscopy, Electron; Microtubules
PubMed: 25054900
DOI: 10.2217/cns.13.64 -
Ugeskrift For Laeger Nov 2015Subcutaneous myxopapillary ependymoma is a very rare entity, and to our knowledge this is the first published case from Denmark. A previously healthy 32-year-old male...
Subcutaneous myxopapillary ependymoma is a very rare entity, and to our knowledge this is the first published case from Denmark. A previously healthy 32-year-old male presented with subcutaneous swelling and tenderness located at the top of the intergluteal cleft. The circular soft tumour, measuring 1.7 × 1.7 × 1.2 cm, was removed surgically. After histopathological examination with several immunohistochemical and special stainings, the diagnosis surprisingly was subcutaneous myxopapillary ependymoma. The tumour was removed with free margins and no metastases were found on follow-up CT- and MRI scans.
Topics: Adult; Ependymoma; Humans; Male; Sacrococcygeal Region
PubMed: 26651556
DOI: No ID Found -
Brain Pathology (Zurich, Switzerland) Mar 2013Ependymoma is the third most common pediatric brain tumor, yet because of the paucity of effective therapeutic interventions, 45% of patients remain incurable. Recent... (Review)
Review
Ependymoma is the third most common pediatric brain tumor, yet because of the paucity of effective therapeutic interventions, 45% of patients remain incurable. Recent transcriptional and copy number profiling of the disease has identified few driver genes and in fact points to a balanced genomic profile. Candidate gene approaches looking at hypermethylated promoters and genome-wide epigenetic arrays suggest that DNA methylation may be critical to ependymoma pathogenesis. This review attempts to highlight existing and emerging evidence implicating the ependymoma epigenome as a key player and that epigenetic modifiers may offer new targeted therapeutic avenues for patients.
Topics: Brain Neoplasms; Child; DNA Methylation; Ependymoma; Epigenesis, Genetic; Gene Expression Regulation, Neoplastic; Humans
PubMed: 23432646
DOI: 10.1111/bpa.12020 -
Current Opinion in Oncology Nov 2017To synthesize, integrate, and comment on recent research developments to our understanding of the molecular basis of ependymoma (EPN), and to place this in context with... (Review)
Review
PURPOSE OF REVIEW
To synthesize, integrate, and comment on recent research developments to our understanding of the molecular basis of ependymoma (EPN), and to place this in context with current treatment and research efforts.
RECENT FINDINGS
Our recent understanding of the histologically defined molecular entity EPN has rapidly advanced through genomic, transcriptomic, and epigenomic profiling studies.
SUMMARY
These advancements lay the groundwork for development of future EPN biomarkers, models, and therapeutics. Our review discusses these discoveries and their impact on our clinical understanding of this disease. Lastly, we offer insight into clinical and research areas requiring further validation, and open questions remaining in the field.
Topics: Animals; Central Nervous System Neoplasms; Ependymoma; Humans
PubMed: 28885433
DOI: 10.1097/CCO.0000000000000411 -
Child's Nervous System : ChNS :... Oct 2009The imaging features of intracranial and spinal ependymoma are reviewed with an emphasis on conventional magnetic resonance imaging (MRI), perfusion MRI and proton... (Review)
Review
The imaging features of intracranial and spinal ependymoma are reviewed with an emphasis on conventional magnetic resonance imaging (MRI), perfusion MRI and proton magnetic resonance spectroscopy, and computed tomography. Imaging manifestations of leptomeningeal dissemination of disease are described. Finally, salient imaging features obtained in the postoperative period to evaluate completeness of surgical resection, and thereafter for long-term surveillance for disease recurrence, are reviewed.
Topics: Brain Neoplasms; Child, Preschool; Diffusion Magnetic Resonance Imaging; Ependymoma; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Perfusion Imaging; Protons; Spinal Cord Neoplasms; Tomography, X-Ray Computed
PubMed: 19360419
DOI: 10.1007/s00381-009-0878-7 -
Acta Clinica Croatica Jun 2020Myxopapillary ependymomas (MPE) of the spinal cord are slow-growing benign tumors most frequently found in adults between 30 and 50 years of age. They arise from the... (Review)
Review
Myxopapillary ependymomas (MPE) of the spinal cord are slow-growing benign tumors most frequently found in adults between 30 and 50 years of age. They arise from the ependyma of the filum terminale and are located in the area of the medullary conus and cauda. The recommended treatment option is gross total resection, while patients undergoing subtotal resection usually require radiotherapy. Complete resection without capsular violation can be curative and is often accomplished by simple resection of the filum above and below the tumor mass. Nevertheless, dissemination and distant treatment failure may occur in approximately 30% of the cases. In this paper, we propose an original MPE classification, which is based upon our personal series report concerned with tumor location and its correlation with the extent of resection. We also provide literature review, discussing surgical technique, tumor recurrence rate and dissemination, and adjuvant treatment. In conclusion, our findings suggest that MPE management based on the proposed 5-type tumor classification is favorable when total surgical resection is performed in carefully selected patients. Yet, further studies on a much broader model is obligatory to confirm this.
Topics: Adult; Ependymoma; Humans; Neoplasm Recurrence, Local; Spinal Cord Neoplasms; Treatment Outcome
PubMed: 33456121
DOI: 10.20471/acc.2020.59.02.17 -
Brain Tumor Pathology Jan 2022Although ependymomas (EPNs) have similar histopathology, they are heterogeneous tumors with diverse immunophenotypes, genetics, epigenetics, and different clinical...
Although ependymomas (EPNs) have similar histopathology, they are heterogeneous tumors with diverse immunophenotypes, genetics, epigenetics, and different clinical behavior according to anatomical locations. We reclassified 141 primary EPNs from a single institute with immunohistochemistry (IHC) and next-generation sequencing (NGS). Supratentorial (ST), posterior fossa (PF), and spinal (SP) EPNs comprised 12%, 41%, and 47% of our cohort, respectively. Fusion genes were found only in ST-EPNs except for one SP-EPN with ZFTA-YAP1 fusion, NF2 gene alterations were found in SP-EPNs, but no driver gene was present in PF-EPNs. Surrogate IHC markers revealed high concordance rates between L1CAM and ZFTA-fusion and H3K27me3 loss or EZHIP overexpression was used for PFA-EPNs. The 7% cut-off of Ki-67 was sufficient to classify EPNs into two-tiered grades at all anatomical locations. Multivariate analysis also delineated that a Ki-67 index was the only independent prognostic factor in both overall and progression-free survivals. The gain of chromosome 1q and CDKN2A/2B deletion were associated with poor outcomes, such as multiple recurrences or extracranial metastases. In this study, we propose a cost-effective schematic diagnostic flow of EPNs by the anatomical location, three biomarkers (L1CAM, H3K27me3, and EZHIP), and a cut-off of a 7% Ki-67 labeling index.
Topics: Ependymoma; Humans; Infratentorial Neoplasms; Ki-67 Antigen; Neural Cell Adhesion Molecule L1; Oncogene Proteins; Prognosis; Spinal Neoplasms; Supratentorial Neoplasms
PubMed: 34812989
DOI: 10.1007/s10014-021-00417-y