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Neuro-oncology Jul 2023A methylation-based classification of ependymoma has recently found broad application. However, the diagnostic advantage and implications for treatment decisions remain...
BACKGROUND
A methylation-based classification of ependymoma has recently found broad application. However, the diagnostic advantage and implications for treatment decisions remain unclear. Here, we retrospectively evaluate the impact of surgery and radiotherapy on outcome after molecular reclassification of adult intracranial ependymomas.
METHODS
Tumors diagnosed as intracranial ependymomas from 170 adult patients collected from 8 diagnostic institutions were subjected to DNA methylation profiling. Molecular classes, patient characteristics, and treatment were correlated with progression-free survival (PFS).
RESULTS
The classifier indicated an ependymal tumor in 73.5%, a different tumor entity in 10.6%, and non-classifiable tumors in 15.9% of cases, respectively. The most prevalent molecular classes were posterior fossa ependymoma group B (EPN-PFB, 32.9%), posterior fossa subependymoma (PF-SE, 25.9%), and supratentorial ZFTA fusion-positive ependymoma (EPN-ZFTA, 11.2%). With a median follow-up of 60.0 months, the 5- and 10-year-PFS rates were 64.5% and 41.8% for EPN-PFB, 67.4% and 45.2% for PF-SE, and 60.3% and 60.3% for EPN-ZFTA. In EPN-PFB, but not in other molecular classes, gross total resection (GTR) (P = .009) and postoperative radiotherapy (P = .007) were significantly associated with improved PFS in multivariable analysis. Histological tumor grading (WHO 2 vs. 3) was not a predictor of the prognosis within molecularly defined ependymoma classes.
CONCLUSIONS
DNA methylation profiling improves diagnostic accuracy and risk stratification in adult intracranial ependymoma. The molecular class of PF-SE is unexpectedly prevalent among adult tumors with ependymoma histology and relapsed as frequently as EPN-PFB, despite the supposed benign nature. GTR and radiotherapy may represent key factors in determining the outcome of EPN-PFB patients.
Topics: Adult; Humans; Retrospective Studies; DNA Methylation; Prognosis; Brain Neoplasms; Ependymoma
PubMed: 36734226
DOI: 10.1093/neuonc/noad030 -
Neuro-oncology May 2018Intradural spinal tumors are rare tumors of the central nervous system. Due to the eloquence of the spinal cord and its tracts, the compact architecture of the cord and... (Review)
Review
Intradural spinal tumors are rare tumors of the central nervous system. Due to the eloquence of the spinal cord and its tracts, the compact architecture of the cord and nerves, and the infiltrative nature of some of these tumors, surgical resection is difficult to achieve without causing neurological deficits. Likewise, chemotherapy and radiotherapy are utilized more cautiously in the treatment of intradural spinal tumors than their cranial counterparts. Targeted therapies aimed at the genetic alterations and molecular biology tailored to these tumors would be helpful but are lacking.Here, we review the major types of intradural spinal tumors, with an emphasis on genetic alterations, molecular biology, and experimental therapies for these difficult to treat neoplasms.
Topics: Astrocytoma; Ependymoma; Humans; Prognosis; Spinal Neoplasms
PubMed: 29216380
DOI: 10.1093/neuonc/nox230 -
Medical Archives (Sarajevo, Bosnia and... Apr 2023Myxopapillary ependymoma is a rare type of primary spinal tumor, it is distinctly a slow-growing tumor that originates in the conus medullaris, cauda equina, or film... (Review)
Review
BACKGROUND
Myxopapillary ependymoma is a rare type of primary spinal tumor, it is distinctly a slow-growing tumor that originates in the conus medullaris, cauda equina, or film terminals and is rarely identified as a multicentric type. Myxopapillary ependymoma has a unique histological characteristic and is associated with a generally better prognosis.
OBJECTIVE
We present a case of a rare multicentric myxopapillary ependymoma.
CASE PRESENTATION
A 28-year-old male with 1-year history of low back pain and 3 months of radiating pain to left lower limb with perianal anesthesia. Magnetic resonance imaging (MRI) exhibited a large intradural intramedullary lesion from the level of the conus medullaris extending to the filum terminals at the level of T12 to L3 with smaller multiple enhancing lesions seen opposite to L4 and L5 level as well as within the exiting nerve roots, at the left side of L1/L2 and L2/L3 and right side of L3/L4 and L5/S1 level. The patient underwent surgical resection with significant improvement in symptoms and no tumor progression on follow up MRI scan.
CONCLUSION
We hereby present a case of multicentric myxopapillary ependymoma with a literature review of the previous reported cases. We believe that our study will make a significant contribution to the literature and will be of interest to the readership regarding of the rarity of multicentric Myxopapillary ependymoma and it will help in decision making for the proper surgical Intervention on these kinds of cases.
Topics: Male; Humans; Adult; Ependymoma; Cauda Equina; Spinal Cord Neoplasms; Low Back Pain; Magnetic Resonance Imaging
PubMed: 37260799
DOI: 10.5455/medarh.2023.77.150-154 -
Journal of Neurosurgical Sciences Feb 2018Intramedullary ependymomas are uncommon tumors that can occur within the medullary substance of the spinal cord. Despite this difficult location, they are typically... (Review)
Review
Intramedullary ependymomas are uncommon tumors that can occur within the medullary substance of the spinal cord. Despite this difficult location, they are typically benign tumors that can most often be removed completely with an acceptable surgical risk. Therefore, the recommended management approach is usually surgical excision. This review will consider the historical context in which surgeons began treating these tumors and then review the more recent literature that guides their current management.
Topics: Ependymoma; Humans; Neurosurgical Procedures; Spinal Cord Neoplasms
PubMed: 28748910
DOI: 10.23736/S0390-5616.17.04162-5 -
Neuro-oncology Jun 2022
Topics: Child; Cohort Studies; Ependymoma; Follow-Up Studies; Humans
PubMed: 35325202
DOI: 10.1093/neuonc/noac060 -
JPMA. the Journal of the Pakistan... Nov 2022Although myxopapillary ependymoma is a fairly common tumour of the lumbosacral spine, primary multi-focal myxopapillary ependymoma is a rare variant. Drop metastasis and...
Although myxopapillary ependymoma is a fairly common tumour of the lumbosacral spine, primary multi-focal myxopapillary ependymoma is a rare variant. Drop metastasis and leptomeningeal spread in the craniospinal axis is seen more frequently in the paediatric population, although it is unusual in adults. Surgical resection of the primary lesion remains the standard treatment. As per the authors' knowledge, to-date there is only one prior case in literature reporting iatrogenic spinal cord herniation with indentation after surgery for thoracolumbar spinal tumour. Here, we are discussing an unusual case of primary multi-focal ependymoma in a 16-year-old Asian boy, with drop metastasis and lepto-meningeal disease, who developed iatrogenic spinal cord herniation after the first surgery for the primary tumour. He presented to the Shaukat Khanum Memorial Cancer Hospital & Research Centre (SKMCH & RC), Lahore, after his first surgery. He underwent the definitive corrective surgery at SKMCH & RC where he was managed further. We discuss the management options for this patient and the lessons learned along the way.
Topics: Male; Adult; Child; Humans; Adolescent; Spinal Cord Neoplasms; Ependymoma; Spinal Neoplasms; Iatrogenic Disease
PubMed: 37013313
DOI: 10.47391/JPMA.4465 -
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 -
Surgical Neurology International 2020Myxopapillary ependymoma occurs more frequently in adults, but is found in the first two decades of life in around 8-20% of patients. Tumors are usually benign with low...
BACKGROUND
Myxopapillary ependymoma occurs more frequently in adults, but is found in the first two decades of life in around 8-20% of patients. Tumors are usually benign with low likelihood for dissemination.
CASE DESCRIPTION
We describe a case of a 13-year-old boy who presented with progressive kyphosis and bilateral weakness of the lower limbs. MRI shows a thoracolumbosacral intradural tumor with invasion of sacral neural foramina and dissemination to the cervicothoracic region. The patient received T10-L5 laminectomy with subtotal tumor resection. Pathological examination revealed myxopapillary ependymoma. After surgical resection, the patient underwent physical therapy with whole spinal radiotherapy for disease control.
CONCLUSION
Spinal myxopapillary ependymomas are usually benign and slow-growing tumors. This case illustrates an extensive and disseminated myxopapillary ependymoma.
PubMed: 33093974
DOI: 10.25259/SNI_390_2020 -
Neuro-oncology Mar 2015Ependymomas are rare CNS tumors. Previous studies describing the clinical course of ependymoma patients were restricted to small sample sizes, often with patients at a...
BACKGROUND
Ependymomas are rare CNS tumors. Previous studies describing the clinical course of ependymoma patients were restricted to small sample sizes, often with patients at a specific institution.
METHODS
Clinically annotated ependymoma tissue samples from 19 institutions were centrally reviewed. Patients were all adults aged 18 years or older at the time of diagnosis. Potential prognostic clinical factors identified on univariate analysis were included in a multivariate Cox proportional hazards model with backwards selection to model progression-free survival.
RESULTS
The 282 adult ependymoma patients were equally male and female with a mean age of 43 years (range, 18-80y) at diagnosis. The majority were grade II (78%) with the tumor grade for 20 cases being reclassified on central review (half to higher grade). Tumor locations were spine (46%), infratentorial (35%), and supratentorial (19%). Tumor recurrence occurred in 26% (n = 74) of patients with a median time to progression of 14 years. A multivariate Cox proportional hazards model identified supratentorial location (P < .01), grade III (anaplastic; P < .01), and subtotal resection, followed or not by radiation (P < .01), as significantly increasing risk of early progression.
CONCLUSIONS
We report findings from an ongoing, multicenter collaboration from a collection of clinically annotated adult ependymoma tumor samples demonstrating distinct predictors of progression-free survival. This unique resource provides the opportunity to better define the clinical course of ependymoma for clinical and translational studies.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Brain Neoplasms; Disease-Free Survival; Ependymoma; Female; Humans; Kaplan-Meier Estimate; Male; Middle Aged; Proportional Hazards Models; Spinal Cord Neoplasms; Young Adult
PubMed: 25121770
DOI: 10.1093/neuonc/nou162 -
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