-
Neuro-oncology Mar 2018Ependymal tumors are rare CNS tumors and may occur at any age, but their proportion among primary brain tumors is highest in children and young adults. Thus, the level... (Review)
Review
Ependymal tumors are rare CNS tumors and may occur at any age, but their proportion among primary brain tumors is highest in children and young adults. Thus, the level of evidence of diagnostic and therapeutic interventions is higher in the pediatric compared with the adult patient population.The diagnosis and disease staging is performed by craniospinal MRI. Tumor classification is achieved by histological and molecular diagnostic assessment of tissue specimens according to the World Health Organization (WHO) classification 2016. Surgery is the crucial initial treatment in both children and adults. In pediatric patients with intracranial ependymomas of WHO grades II or III, surgery is followed by local radiotherapy regardless of residual tumor volume. In adults, radiotherapy is employed in patients with anaplastic ependymoma WHO grade III, and in case of incomplete resection of WHO grade II ependymoma. Chemotherapy alone is reserved for young children <12 months and for adults with recurrent disease when further surgery and irradiation are no longer feasible. A gross total resection is the mainstay of treatment in spinal ependymomas, and radiotherapy is reserved for incompletely resected tumors. Nine subgroups of ependymal tumors across different anatomical compartments (supratentorial, posterior fossa, spinal) and patient ages have been identified with distinct genetic and epigenetic alterations, and with distinct outcomes. These findings may lead to more precise diagnostic and prognostic assessments, molecular subgroup-adapted therapies, and eventually new recommendations pending validation in prospective studies.
Topics: Ependymoma; Humans; Practice Guidelines as Topic; Prognosis
PubMed: 29194500
DOI: 10.1093/neuonc/nox166 -
Brain Pathology (Zurich, Switzerland) Jul 2022Ependymal neoplasms occur at all ages and encompass multiple tumor types and subtypes that develop in the supratentorial compartment, the posterior fossa, or the spinal... (Review)
Review
Ependymal neoplasms occur at all ages and encompass multiple tumor types and subtypes that develop in the supratentorial compartment, the posterior fossa, or the spinal cord. Clinically, ependymomas represent a very heterogeneous group of tumors from rather benign subependymomas to very aggressive and often deadly childhood ependymomas of the posterior fossa. Newly identified biological markers and classification schemes, e. g. based on global DNA methylation profiling, have led to the definition of 10 types of ependymal tumors and an improved prediction of patients' outcome by applying the new classification system. While the exact genetic basis for several ependymoma types still remains unclear, the knowledge about ependymoma driving events has significantly increased within the last decade and contributed to a classification based on molecular characteristics and localization rather than histological features alone. Convincing evidence is now pointing towards gene fusions involving ZFTA or YAP1 causing the development of supratentorial ependymomas. Also, H3, EZHIP, or TERT mutations have been detected in a fraction of infratentorial ependymal tumors. Finally, MYCN amplifications have recently been identified in spinal ependymomas, in addition to the previously known mutations in NF2. This review summarizes how recent findings regarding biology, molecular tumor typing, and clinical outcome have impacted the classification of ependymomas as suggested by the updated 2021 WHO CNS tumor classification system. We focus on changes compared to the previous classification of 2016 and discuss how a formal grading could evolve in the future and guide clinicians to treat ependymoma patients.
Topics: Brain Neoplasms; Child; Ependymoma; Humans; Infratentorial Neoplasms; Supratentorial Neoplasms; World Health Organization
PubMed: 35307892
DOI: 10.1111/bpa.13068 -
Pathologica Dec 2022Ependymal neoplasms are a heterogenous group of neoplasms arising from the progenitors of the cells lining the ventricular system and the spinal central canal. During... (Review)
Review
Ependymal neoplasms are a heterogenous group of neoplasms arising from the progenitors of the cells lining the ventricular system and the spinal central canal. During the last few years, significant novel data concerning oncogenesis, molecular characteristics and clinical correlations of these tumours have been collected, with a strong relevance for their pathological classification. The recently published 5th edition of WHO Classification of Central Nervous System Tumours integrates this novel knowledge and represents a substantial update compared to the previous edition. Concerning supratentorial ependymomas, the previous fusion-positive ependymoma has been renamed into fusion-positive and the novel fusion-positive ependymoma subtype has been added. Posterior fossa ependymomas should now be allocated either to the Type A or Type B subtypes based on molecular profiling or using the H3 K27me3 immunohistochemical surrogate. Regarding spinal ependymomas, a novel subtype has been added based on a distinctive molecular trait, presence of amplification, and on the unfavourable outcome. Finally, myxopapillary ependymoma is now classified as a grade 2 tumour in accordance with its overall prognosis which mirrors that of conventional spinal ependymomas. The aim of this review is to present these changes and summarize the current diagnostic framework of ependymal tumours, according to the most recent updates.
Topics: Humans; Ependymoma; Prognosis
PubMed: 36534422
DOI: 10.32074/1591-951X-817 -
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 -
Frontiers in Pediatrics 2023Ependymal tumors arise from the ependymal cell remnants of the cerebral ventricles, the central canal of the spinal cord, or the filum terminale or conus medullaris,... (Review)
Review
Ependymal tumors arise from the ependymal cell remnants of the cerebral ventricles, the central canal of the spinal cord, or the filum terminale or conus medullaris, although most pediatric supratentorial ependymomas do not exhibit clear communication or abutment of the ventricles. In this article, we discuss the classification, imaging characteristics, and clinical settings of these tumors. The WHO 2021 classification system has categorized ependymal tumors based on histopathologic and molecular features and location, in which they are grouped as supratentorial, posterior fossa (PF), and spinal. The supratentorial tumors are defined by either the ZFTA (formerly RELA) fusion or the YAP1 fusion. Posterior fossa tumors are divided into group A and group B based on methylation. On imaging, supratentorial and infratentorial ependymomas may arise from the ventricles and commonly contain calcifications and cystic components, with variable hemorrhage and heterogeneous enhancement. Spinal ependymomas are defined by MYCN amplification. These tumors are less commonly calcified and may present with the "cap sign," with T2 hypointensity due to hemosiderin deposition. Myxopapillary ependymoma and subependymoma remain tumor subtypes, with no change related to molecular classification as this does not provide additional clinical utility. Myxopapillary ependymomas are intradural and extramedullary tumors at the filum terminale and/or conus medullaris and may also present the cap sign. Subependymomas are homogeneous when small and may be heterogeneous and contain calcifications when larger. These tumors typically do not demonstrate enhancement. Clinical presentation and prognosis vary depending on tumor location and type. Knowledge of the updated WHO classification of the central nervous system in conjunction with imaging features is critical for accurate diagnosis and treatment.
PubMed: 37287627
DOI: 10.3389/fped.2023.1181211 -
Journal of Chest Surgery Jun 2021Ependymomas arise from ependymal cells and can grow at any site in the central nervous system (CNS), as well as in some locations outside of the CNS. The latter is rare,...
Ependymomas arise from ependymal cells and can grow at any site in the central nervous system (CNS), as well as in some locations outside of the CNS. The latter is rare, contributing to the frequent misdiagnoses of such cases. Herein, we present the case of a 54-year-old man with a history of lower limb weakness and numbness. Magnetic resonance imaging revealed an extradural, heterogeneously enhanced solid lesion with a regular and well-defined border in the posterior mediastinum. A post-resection histopathological examination revealed tumor-forming perivascular pseudo-rosettes that showed immunoreactivity against glial fibrillary acidic protein, epithelial membrane antigen, and vimentin, as well as a high Ki-67 labeling index. Based on pathological features, a diagnosis of anaplastic ependymoma was established.
PubMed: 33767021
DOI: 10.5090/jcs.20.094 -
Cancers Dec 2021Ependymomas are rare primary central nervous system tumors. They can form anywhere along the neuraxis, but in adults, these tumors predominantly occur in the spine and... (Review)
Review
Ependymomas are rare primary central nervous system tumors. They can form anywhere along the neuraxis, but in adults, these tumors predominantly occur in the spine and less frequently intracranially. Ependymal tumors represent a heterogenous group of gliomas, and the WHO 2016 classification is based essentially on a grading system, with ependymomas classified as grade I, II (classic), or III (anaplastic). In adults, surgery is the primary initial treatment, while radiotherapy is employed as an adjuvant treatment in some cases of grade II and in all cases of anaplastic ependymoma; chemotherapy is reserved for recurrent cases. In recent years, important and interesting advances in the molecular characterization of ependymomas have been made, allowing for the identification of nine molecular subgroups of ependymal tumors and moving toward subgroup-specific patients with improved risk stratification for treatment-decisions and future prospective trials. New targeted agents or immunotherapies for ependymoma patients are being explored for recurrent disease. This review summarizes recent molecular advances in the diagnosis and treatment of intracranial ependymomas including surgery, radiation therapy and systemic therapies.
PubMed: 34885237
DOI: 10.3390/cancers13236128 -
EBioMedicine Apr 2022Congenital hydrocephalus occurs in one in 500-1000 babies born in the United States and acquired hydrocephalus may occur as the consequence of stroke, intraventricular... (Review)
Review
Congenital hydrocephalus occurs in one in 500-1000 babies born in the United States and acquired hydrocephalus may occur as the consequence of stroke, intraventricular and subarachnoid hemorrhage, traumatic brain injuries, brain tumors, craniectomy or may be idiopathic, as in the case of normal pressure hydrocephalus. Irrespective of its prevalence and significant impact on quality of life, neurosurgeons still rely on invasive cerebrospinal fluid shunt systems for the treatment of hydrocephalus that are exceptionally prone to failure and/or infection. Further understanding of this process at a molecular level, therefore, may have profound implications for improving treatment and quality of life for millions of individuals worldwide. The purpose of this article is to review the current research landscape on hydrocephalus with a focus on recent advances in our understanding of cerebrospinal fluid pathways from an evolutionary, genetics and molecular perspective.
Topics: Heart Ventricles; Humans; Hydrocephalus; Infant; Quality of Life; Subarachnoid Hemorrhage
PubMed: 35306341
DOI: 10.1016/j.ebiom.2022.103931 -
Surgical Neurology International Dec 2010Pituicytomas originate from pituicytes, modified glial cells derived from ependymal lineage that are found in the stalk and posterior lobe of pituitary gland. The...
BACKGROUND
Pituicytomas originate from pituicytes, modified glial cells derived from ependymal lineage that are found in the stalk and posterior lobe of pituitary gland. The clinical presentation is similar to other pituitary tumors and imaging exams may suggest pituitary adenoma. The diagnostic is based on histopathological analysis. Surgical treatment can be performed by transsphenoidal approach with good results. The prognostic is good after total tumor resection.
CASE DESCRIPTION
We describe here the case of a 17-year-old patient with a history of persistent headache and visual disturbances. Magnetic resonance imaging demonstrated an enhancing solid sellar mass suggestive of pituitary adenoma. The intrasellar mass was resected through a transsphenoidal approach and the diagnosis of pituicytoma was made after histopathological analysis.
CONCLUSION
Pituicytomas are rare tumors of the neurohypophysis derived from pituicytes. Their clinical presentation resembles that of non-functional pituitary adenomas, but these two types of tumors are histologically well distinct.
PubMed: 21206895
DOI: 10.4103/2152-7806.73802