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Ophthalmic Plastic and Reconstructive...Orbital ependymomas are rare in the orbit and usually occur secondary to extracerebral extension of an intraventricular ependymoma. The authors present a rare case of...
Orbital ependymomas are rare in the orbit and usually occur secondary to extracerebral extension of an intraventricular ependymoma. The authors present a rare case of orbital ependymoma in a 74-year-old female. The patient was initially diagnosed with intraventricular ependymoma at the age of 13 years that required multiple repeat craniotomies for tumor recurrence. She then developed progressive tumor growth with extension into the bilateral frontal lobes and orbit. The orbital involvement produced binocular diplopia, epiphora, and globe distortion with compressive optic neuropathy. To the authors knowledge, this is the first such report in the English language ophthalmic literature.
Topics: Adolescent; Aged; Ependymoma; Female; Humans; Neoplasm Recurrence, Local; Optic Nerve Diseases; Orbit
PubMed: 35030150
DOI: 10.1097/IOP.0000000000002095 -
Cancer Cell May 2015Ependymal tumors across age groups are currently classified and graded solely by histopathology. It is, however, commonly accepted that this classification scheme has...
Ependymal tumors across age groups are currently classified and graded solely by histopathology. It is, however, commonly accepted that this classification scheme has limited clinical utility based on its lack of reproducibility in predicting patients' outcome. We aimed at establishing a uniform molecular classification using DNA methylation profiling. Nine molecular subgroups were identified in a large cohort of 500 tumors, 3 in each anatomical compartment of the CNS, spine, posterior fossa, supratentorial. Two supratentorial subgroups are characterized by prototypic fusion genes involving RELA and YAP1, respectively. Regarding clinical associations, the molecular classification proposed herein outperforms the current histopathological classification and thus might serve as a basis for the next World Health Organization classification of CNS tumors.
Topics: Adaptor Proteins, Signal Transducing; Adolescent; Adult; Age Factors; Aged; Central Nervous System Neoplasms; Child; Child, Preschool; DNA Methylation; Ependymoma; Female; Gene Dosage; Gene Expression Profiling; Gene Fusion; Humans; Infant; Male; Middle Aged; Phosphoproteins; Transcription Factors; Transcription, Genetic; YAP-Signaling Proteins; Young Adult
PubMed: 25965575
DOI: 10.1016/j.ccell.2015.04.002 -
Child's Nervous System : ChNS :... Oct 2023Since our last Special Annual Issue dedicated to the topic of ependymoma in 2009, critical advancements have been made in the understanding of this disease which is... (Review)
Review
Since our last Special Annual Issue dedicated to the topic of ependymoma in 2009, critical advancements have been made in the understanding of this disease which is largely confined to childhood. In the era of molecular profiling, the prior classification of ependymoma based on histology has become largely irrelevant, with multiple new subtypes of this disease now being described in the newest 2021 WHO CNS Tumor Classification System. Despite our advancements in understanding the underlying biology of these tumors, the mainstays of treatment-gross total surgical resection followed by confocal radiation therapy-have continued to yield the best treatment results across multiple studies and centers. Here, we provide an update on our understanding of the advancements made in tumor biology, surgical, and oncologic management of this disease. As we move into an era of more personalized medicine, it is critical to reflect on our historical understanding of different disease entities, to better understand the future directions of our treatments.
Topics: Child; Humans; Treatment Outcome; Ependymoma; Brain Neoplasms
PubMed: 37493720
DOI: 10.1007/s00381-023-06091-z -
No Shinkei Geka. Neurological Surgery Jan 2022Herein we discuss precision medicine for ependymoma. We reviewed the new molecular classifications of ependymoma, studies on the molecular mechanisms involved in... (Review)
Review
Herein we discuss precision medicine for ependymoma. We reviewed the new molecular classifications of ependymoma, studies on the molecular mechanisms involved in carcinogenesis and proliferation, and the various studies exploring new therapeutic strategies. Of the nine molecular classifications of ependymoma, supratentorial ependymomas with fusion, posterior fossa PFA group, and spinal ependymomas with amplification are treatment-resistant, and candidates for precision medicine. Precision medicine is considered to select a treatment method based on molecular biological information, but its application is thought to be difficult for ependymomas with few somatic mutations. Recent studies have shown that epigenetic mechanisms are involved in the development and growth of PFA ependymomas without recurrent somatic mutations. It has been found that forms fusion genes with various genes other than the typical fusion, and a common therapeutic target has been suggested for the genes downstream of it. Unfortunately, these findings have not yet been clinically applied to precision medicine for ependymoma, but newer discoveries are gradually accumulating. Further development of research is warranted.
Topics: Ependymoma; Humans; Precision Medicine; Supratentorial Neoplasms
PubMed: 35169089
DOI: 10.11477/mf.1436204534 -
Neuro-oncology Jul 2016Ependymomas are rare primary tumors of the central nervous system in children and adults that comprise histologically similar but genetically distinct subgroups. The... (Review)
Review
Ependymomas are rare primary tumors of the central nervous system in children and adults that comprise histologically similar but genetically distinct subgroups. The tumor biology is typically more associated with the site of origin rather than being age-specific. Genetically distinct subgroups have been identified by genomic studies based on locations in classic grade II and III ependymomas. They are supratentorial ependymomas with C11orf95-RELA fusion or YAP1 fusion, infratentorial ependymomas with or without a hypermethylated phenotype (CIMP), and spinal cord ependymomas. Myxopapillary ependymomas and subependymomas have different biology than ependymomas with typical WHO grade II or III histology. Surgery and radiotherapy are the mainstays of treatment, while the role of chemotherapy has not yet been established. An in-depth understanding of tumor biology, developing reliable animal models that accurately reflect tumor molecule features, and high throughput drug screening are essential for developing new therapies. Collaborative efforts between scientists, physicians, and advocacy groups will enhance the translation of laboratory findings into clinical trials. Improvements in disease control underscore the need to incorporate assessment and management of patients' symptoms to ensure that treatment advances translate into improvement in quality of life.
Topics: Animals; Brain Neoplasms; Disease Models, Animal; Ependymoma; Glioma, Subependymal; Humans; Quality of Life; Spinal Cord Neoplasms
PubMed: 27022130
DOI: 10.1093/neuonc/now016 -
Japanese Journal of Clinical Oncology Jul 2023Ependymoma is a rare central nervous system (CNS) tumour occurring in all age groups and is one of the most common paediatric malignant brain tumours. Unlike other... (Review)
Review
Ependymoma is a rare central nervous system (CNS) tumour occurring in all age groups and is one of the most common paediatric malignant brain tumours. Unlike other malignant brain tumours, ependymomas have few identified point mutations and genetic and epigenetic features. With advances in molecular understanding, the latest 2021 World Health Organization (WHO) classification of CNS tumours divided ependymomas into 10 diagnostic categories based on the histology, molecular information and location; this accurately reflected the prognosis and biology of this tumour. Although maximal surgical resection followed by radiotherapy is considered the standard treatment method, and chemotherapy is considered ineffective, the validation of the role of these treatment modalities continues. Although the rarity and long-term clinical course of ependymoma make designing and conducting prospective clinical trials challenging, knowledge is steadily accumulating and progress is being made. Much of the clinical knowledge obtained from clinical trials to date was based on the previous histology-based WHO classifications, and the addition of new molecular information may lead to more complex treatment strategies. Therefore, this review presents the latest findings on the molecular classification of ependymomas and advances in its treatment.
Topics: Humans; Child; Prospective Studies; Ependymoma; Brain Neoplasms; Central Nervous System Neoplasms; Prognosis
PubMed: 37288489
DOI: 10.1093/jjco/hyad056 -
Clinical Radiology Nov 2020Spinal cord lesions are traditionally classified as either extradural or intradural extramedullary or of intramedullary origin. Intramedullary spinal cord tumours are... (Review)
Review
Spinal cord lesions are traditionally classified as either extradural or intradural extramedullary or of intramedullary origin. Intramedullary spinal cord tumours are histopathologically similar to cranial tumours with a diverse range of pathologies. Astrocytomas and ependymomas account for approximately 80% of all intramedullary tumours, with other primary and secondary lesions accounting for the remaining 20%. Magnetic resonance imaging is the preferred imaging modality for diagnosing and characterising spinal cord lesions; however, accurate characterisation of tumour histology can be challenging, and is further confounded by intramedullary non-neoplastic lesions, such as demyelinating vascular, inflammatory, infectious, or traumatic lesions. This review illustrates the spectrum of intramedullary tumours and tumour mimics with emphasis on the imaging findings.
Topics: Astrocytoma; Diagnosis, Differential; Ependymoma; Humans; Magnetic Resonance Imaging; Spinal Cord; Spinal Cord Diseases; Spinal Cord Neoplasms
PubMed: 32591229
DOI: 10.1016/j.crad.2020.05.010 -
Neuro-oncology Jun 2021
Topics: Adolescent; Brain Neoplasms; Child; Ependymoma; Humans
PubMed: 33728470
DOI: 10.1093/neuonc/noab066 -
Nature Communications Nov 2022Recurrence is frequent in pediatric ependymoma (EPN). Our longitudinal integrated analysis of 30 patient-matched repeated relapses (3.67 ± 1.76 times) over 13 years...
Recurrence is frequent in pediatric ependymoma (EPN). Our longitudinal integrated analysis of 30 patient-matched repeated relapses (3.67 ± 1.76 times) over 13 years (5.8 ± 3.8) reveals stable molecular subtypes (RELA and PFA) and convergent DNA methylation reprogramming during serial relapses accompanied by increased orthotopic patient derived xenograft (PDX) (13/27) formation in the late recurrences. A set of differentially methylated CpGs (DMCs) and DNA methylation regions (DMRs) are found to persist in primary and relapse tumors (potential driver DMCs) and are acquired exclusively in the relapses (potential booster DMCs). Integrating with RNAseq reveals differentially expressed genes regulated by potential driver DMRs (CACNA1H, SLC12A7, RARA in RELA and HSPB8, GMPR, ITGB4 in PFA) and potential booster DMRs (PLEKHG1 in RELA and NOTCH, EPHA2, SUFU, FOXJ1 in PFA tumors). DMCs predicators of relapse are also identified in the primary tumors. This study provides a high-resolution epigenetic roadmap of serial EPN relapses and 13 orthotopic PDX models to facilitate biological and preclinical studies.
Topics: Humans; Child; Ependymoma; DNA Methylation; Recurrence; Epigenesis, Genetic; Symporters
PubMed: 36335125
DOI: 10.1038/s41467-022-34514-z -
Radiographics : a Review Publication of... 2019While intradural extramedullary spinal disease varies widely, identification of tumors in this location and their radiologic manifestations greatly facilitates narrowing... (Review)
Review
While intradural extramedullary spinal disease varies widely, identification of tumors in this location and their radiologic manifestations greatly facilitates narrowing of the diagnostic considerations. Meningioma and schwannoma are the two most common intradural extramedullary tumors, and both are associated with neurofibromatosis. Meningiomas are most common in the thoracic spine and show a strong female predilection and a clinical manifestation related to compression of the spinal cord or nerve roots. Schwannomas typically are associated with radicular pain and other sensory symptoms. Melanotic schwannoma frequently shows T1 hyperintensity at MRI related to the presence of paramagnetic free radicals in melanin. Neurofibroma, known for its T2 hyperintensity, frequently involves the cervical spine, where it may make surgical resection challenging. Less commonly, malignant peripheral nerve sheath tumor commonly mimics the imaging appearance of a schwannoma but has decidedly more aggressive biologic behavior. In the cauda equina, myxopapillary ependymoma and paraganglioma are believed to arise from the filum terminale and have characteristic imaging manifestations based on their underlying pathologic features. Recent identification of a common genetic marker has led to reclassification of what had previously been regarded as separate tumors and are now known as solitary fibrous tumor/hemangiopericytoma. In the proper clinical setting, the presence of nodular intradural enhancement strongly suggests the presence of leptomeningeal metastatic disease, even when results of cerebrospinal fluid analysis are negative. This article highlights the characteristic neuroimaging manifestations of these neoplasms, with emphasis on radiologic-pathologic correlation. See Illumination by Frazier .
Topics: Contrast Media; Ependymoma; Female; Gadolinium; Hemangiopericytoma; Humans; Magnetic Resonance Imaging; Male; Meningeal Neoplasms; Meningioma; Neurilemmoma; Neurofibroma; Neuroimaging; Paraganglioma; Spinal Neoplasms
PubMed: 30844353
DOI: 10.1148/rg.2019180200