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Journal of the American Veterinary... Mar 2019
Topics: Animals; Brain Neoplasms; Dog Diseases; Dogs; Ependymoma; Female
PubMed: 30835170
DOI: 10.2460/javma.254.6.685 -
Brain Pathology (Zurich, Switzerland) Jan 2019Myxopapillary ependymomas (MPE) are considered benign (World Health Organization (WHO) grade I) neoplasms with favorable prognosis. However, malignant behavior occurs in...
Myxopapillary ependymomas (MPE) are considered benign (World Health Organization (WHO) grade I) neoplasms with favorable prognosis. However, malignant behavior occurs in a small subset. To our knowledge, only five anaplastic MPEs have been reported without consensus on diagnostic criteria. We retrieved 14 anaplastic MPEs from the pathology archives of six institutions. Each tumor included at least two of the following features: ≥5 mitoses per 10 high power fields, Ki-67 labeling index (LI) ≥10%, microvascular proliferation (MVP) and spontaneous necrosis. These features were typically encountered in the foci of hypercellularity and reduced mucin. There were eight male and six female patients (age range 6-57 years, median = 16.5). Ten tumors displayed anaplasia at initial resection, and 4 were anaplastic at a second surgery for recurrence (ranging from 9 months to 14 years following initial resection). The Ki-67 LI ranged between 8% and 40% in the anaplastic foci and <3% in the foci of classic MPE. There was documented cerebrospinal fluid (CSF) dissemination in seven cases, recurrence following an anaplastic diagnosis in three cases and bone or soft tissue invasion in two cases. One patient suffered lung metastases. Two cases evaluated by targeted next-generation sequencing and one evaluated by fluorescence in situ hybridization (FISH) showed nonspecific chromosomal gains. We conclude that although rare, anaplastic MPE occurs in both pediatric and adult patients, similar to other ependymomas. At a minimum, closer follow-up is recommended, given the concern for aggressive biologic potential. Further study is needed to determine WHO grading criteria and genetic indicators of tumor progression.
Topics: Adolescent; Adult; Antigens, Nuclear; Child; Ependymoma; Female; Humans; In Situ Hybridization, Fluorescence; Ki-67 Antigen; Male; Middle Aged; Neoplasm Recurrence, Local; Spinal Cord Neoplasms
PubMed: 30417460
DOI: 10.1111/bpa.12673 -
Brain Pathology (Zurich, Switzerland) Jan 2020Ependymomas are primary central nervous system tumors (CNS), arising within the posterior fossa and supratentorial regions of the brain, and in the spine. Over the last... (Review)
Review
Ependymomas are primary central nervous system tumors (CNS), arising within the posterior fossa and supratentorial regions of the brain, and in the spine. Over the last decade, research has resulted in substantial insights into the molecular characteristics of ependymomas, and significant advances have been made in the establishment of a molecular classification system. Ependymomas both within and between the three CNS regions in which they arise, have been shown to contain distinct genetic, epigenetic and cytogenic aberrations, with at least three molecularly distinct subgroups identified within each region. However, these advances in molecular characterization have yet to be translated into clinical practice, with the standard treatment for ependymoma patients largely unchanged. This review summarizes the advances made in the molecular characterization of intracranial ependymomas, outlines the progress made in establishing preclinical models and proposes strategies for moving toward subgroup-specific preclinical investigations and treatment.
Topics: Brain Neoplasms; Central Nervous System Neoplasms; Ependymoma; Humans; Infratentorial Neoplasms; Spinal Neoplasms; Supratentorial Neoplasms
PubMed: 31433520
DOI: 10.1111/bpa.12781 -
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 -
Neurology India 2023Lipogenic differentiation in ependymoma is an infrequent occurrence with very few reported cases. The grading was done solely based on the histomorphology and molecular...
Lipogenic differentiation in ependymoma is an infrequent occurrence with very few reported cases. The grading was done solely based on the histomorphology and molecular subtyping was not described in such ependymomas. New molecular classification divided ependymomas in nine different subgroups, of which supratentorial location tumor usually exhibits C11orf95-RELA, YAP1-MAMLD1, and YAP1-FAM118B fusion proteins. A 46-year-old female presented with headache and right-sided parapresis. Radilogy revealed a large intraxial left parietooccipital mass lesion, which histologically and immuohistochemically confirmed as anaplastic ependymoma with extensive lipogenic changes. The ependymal origin of the tumor was corroborated by the immunohistochemistry and ultrastructural studies. Molecular studies for C11orf95-RELA, YAP1-MAMLD1, and YAP1-FAM118B fusion proteins were negative. This is the first documentation of fusion negative supratentorial anaplastic ependymoma with lipogenic differentiation. This novel finding needs further reinforcement by similar studies to identify its impact on the disease outcome.
Topics: Female; Humans; Middle Aged; Transcription Factor RelA; Supratentorial Neoplasms; Ependymoma; Immunohistochemistry; DNA-Binding Proteins; Nuclear Proteins; Transcription Factors; Proteins
PubMed: 37929446
DOI: 10.4103/0028-3886.388099 -
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 -
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