Ependymoma Research Articles

Clinicoradiologic Characteristics of Intradural Extramedullary Conventional Spinal Ependymoma.

Distinguishing intradural extramedullary (IDEM) spinal ependymoma from myxopapillary ependymoma is challenging due to the location of IDEM spinal ependymoma. This study aimed to investigate the utility of clinical and MR imaging features for differentiating between IDEM spinal and myxopapillary ependymomas. We compared tumor size, longitudinal/axial location, enhancement degree/pattern, tumor margin, signal intensity (SI) of the tumor on T2-weighted images and T1-weighted image (T1WI), increased cerebrospinal fluid (CSF) SI caudal to the tumor on T1WI, and CSF dissemination of pathologically confirmed 12 IDEM spinal and 10 myxopapillary ependymomas. Furthermore, classification and regression tree (CART) was performed to identify the clinical and MR features for differentiating between IDEM spinal and myxopapillary ependymomas. Patients with IDEM spinal ependymomas were older than those with myxopapillary ependymomas (48 years vs. 29.5 years, p < 0.05). A high SI of the tumor on T1W1 was more frequently observed in IDEM spinal ependymomas than in myxopapillary ependymomas (p = 0.02). Conversely, myxopapillary ependymomas show CSF dissemination. Increased CSF SI caudal to the tumor on T1WI was observed more frequently in myxopapillary ependymomas than in IDEM spinal ependymomas (p < 0.05). Dissemination to the CSF space and increased CSF SI caudal to the tumor on T1WI were the most important variables in CART analysis. Clinical and radiological variables may help differentiate between IDEM spinal and myxopapillary ependymomas.

Intramedullary Spinal Cord Tumors (IMSCTs): Outcome after surgical resection in 35 cases and review of literature

BACKGROUND Intramedullary Spinal Cord Tumors (IMSCTs) are rare and they represent only 5% of all spinal tumors. Ependymoma and astrocytoma are two most common IMSCTs. Due to recent advances in micro instruments, imaging and technology, aggressive surgical excision has become a safer possibility with better outcome. Aim of this study is to analyze functional outcome of patients after surgical resection of IMSCTs and review of literature.&#x0D; METHODOLOGY Over a period of 4 years, between May 2017 and January 2021, 35 patients were operated for IMSCTs under general anesthesia. Neurophysiological monitoring (NPM) was recently available and used only in last few cases. CUSA was used whenever required in these microsurgical procedures. This retrospective study was carried out after retrieving data from OT registers, inpatient files, OPD records, and statistical analysis was executed using SPSS software (version 18). Functional outcome was assessed by McCormick grading scale and mean follow up period was 2.5 years.&#x0D; RESULTS Out of 35 patients, 17 were male and 18 female. Mean age distribution was 27.57(+/-17.68). On admission, 30 patients had motor deficits, 18 had neck or back pain, 10 had sphincter dysfunction, 7 had kyphoscoliosis and 2 patients had normal neurology. MRI with IV contrast of these 35 patients revealed intramedullary lesions at cervical (11), cervicomedullary (4), thoracic (8), cervicothoracic (2), thoracolumbar (3), conus (6) and lumbar (1) regions. 22 patients had gross total and 13 had subtotal resection. Histological examination confirmed 30 glial tumors (ependymoma &amp; astrocytoma), 2 dermoid/epidermoid, 2 neurenteric cysts and 1 secondary. Postoperative complication was 17% and there was no surgery related 30 days’ mortality. Functional outcome was measured by McCormick grade before and after microsurgical resection. Preoperatively 3(8.5%) patients had low grade or independent and 32 (91.4%) had high grade or dependent. Postoperatively and at the time of discharge 14 (40%) of patients had low grade or independent and 21 (60%) were dependent or high grade. On last followed up (4 years) 15 (48.3%) had low grade and 16 (51.6%) had high grade or dependent. In our series, on followed up of 4 years, recurrence rate was 5(14.2%), They were 2 astrocytoma, 1 secondary, and 2 myxopapillary ependymomas. Two patients with myxopapillary ependymoma were operated twice and no radiotherapy was advocated. 8 (22.6%) patients received local radiation and recurrence rate was 17.2%.&#x0D; CONCLUSION Safe resection of intramedullary lesion is possible with the aid of modern neurosurgical tools, however, functional outcome relies on preoperative neurological status of the patients, extent of excision and histology of tumor. Risk factors for recurrence of IMSCTS are extent of resection and histological behavior of tumor.

Malignant Epidermoid Cyst: MRI Evaluation and Review of Literature

Epidermoid cysts are commonly encountered intracranial neoplastic masses in clinical radiology practice. They are purely benign but may undergo malignant transformation or may present as de novo malignant epidermoid tumor, a rare but ominous phenomenon associated with poor prognosis. Malignant epidermoids may masquerade as glial tumours, ependymal neoplasms, or choroid plexus masses, and are prone to be misdiagnosed. We describe a case of malignant epidermoid cyst or tumor (de novo) in a young adult who presented with the complaints of intermittent headaches which had increased in frequency and severity.

Role of MRI in the Diagnosis of Intra Medullary Spinal Tumor with Histopathological Correlation

Introduction: Intramedullary spinal cord tumor (IMSCT) constitutes 8% to 10% of all primary spinal tumors with the majority comprised of gliomas (80% to 90%), of which 60% to 70% are ependymomas and 30% to 40% are astrocytomas. Astrocytomas are common in the thoracic region whereas ependymomas are common in cervical region. Ependymomas are the most common glial tumor in adults, whereas astrocytomas are the most common intramedullary tumor in children. Overall, 15% of all primary intramedullary spinal cord tumors are ependymal in origin and include one of three histopathologic subtypes: ependymoma, subependymoma and myxopapillary ependymoma. Aim of the Study: The aim of this study was to evaluate the role of MRI in diagnosis of intra medullary spinal tumors compared to histopathological findings. Methods: This was a cross sectional study and was conducted in the Department of Radiology and Imaging, Sylhet M.A.G. Osmani Medical College, Sylhet in collaboration with Department of Neurosurgery &amp; Pathology of the same hospital, Sylhet, Bangladesh during the period from September, 2018 to August 2020. Result: In total 35 patients completed the study. In our study we found the Mean ± SD of age was 41.71±13.9 in years. Majority (57%) of our patients presented with intramedullary spinal cord tumor were male compared to female (43%).We found that among of our 35 patients 20 (57.14%) were ependymoma, 15 (42.86%) patients were astrocytoma diagnosed by MRI. Majority (40%) patients of ependymoma belong to 41-50 years and majority patients of astrocytoma (40%) belong to 10-20 years old. Both ependymoma and astrocytoma showed male predominance with 55% and 60% respectively. It was observed that majority (70% &amp; 55%) patients of ependymoma had back &amp; radicular pain respectively. Majority (80% &amp; 60%) patients of astrocytoma had back &amp; radicular pain respectively. Ependymoma was determined by calculating sensitivity 95.0%, specificity 100%, accuracy 97.14%, PPV 100% and NPV 93.75% ....

Current management in the treatment of intramedullary ependymomas in children.

Current management of pediatric intramedullary ependymoma is extrapolated from adult series since large studies in children are unavailable. This has led us to share our experience with this rare tumor and compare it to the literature and to review and highlight important aspects of current management and point out inconsistencies. This is a retrospective analysis of patients with intramedullary ependymoma managed at our institution between 2004 and 2021. During the study period, 5 patients were treated for intramedullary ependymoma. Cases of myxopapillary ependymoma were excluded. The mean age of our cohort was 11.2years. We identified 4 cases of grade II ependymoma and 1 case of grade III ependymoma. Gross tumor removal (GTR) was achieved in two patients (40%) of patients. One patient was treated with radiotherapy for recurrence and two patients received chemotherapy. There were no cases of recurrence among patients treated with GTR, but in all patients treated with STR. Eighty percent of patients either improved or stayed stable neurologically. During follow-up (mean 73months), 2 patients died of disease. GTR and tumor grade remain the key prognostic factor of long-term tumor-free survival. Many questions prevail regarding outcomes, correct use of adjuvant therapy, and prognostic factors.

Ependymoma: an epidemiological perspective from a low- and middle-income country.

To enumerate the burden of ependymoma in our region and identify the demographic, tumoural, surgical, clinical characteristics, and outcomes of patients diagnosed with ependymoma. This retrospective cross-sectional study included patients admitted under neurosurgical service between January 1 and December 31, 2019. The inclusion criterion for the study was a histopathological diagnosis of the brain lesion. The experience of the ependymal brain tumours observed at the 32 participating sites in Pakistan is presented. A total of 2750 patients with brain tumours were seen in 2019 at our centres of whom 58(2.1%) had a histopathological diagnosis of ependymoma. The median age at diagnosis was nine (IQR= 4.5-24.5) years. The median time to surgery from date of radiological diagnosis was 38.5 (IQR= 4-93.8) days. The median KPS score at presentation was 70 (IQR= 60-80), and post-surgery was 90 (IQR= 70-100), showing an average increase of 20. Our population's overall mortality rate for ependymoma was 31.1%, with the 30-day mortality rate being 2.2% (lower than the 4.5% on average for all brain tumours in our cohort). Ependymomas were predominantly found in the paediatric population in the presented cohort. While gender distribution and histopathological grading seemed to follow international trends, this study had a much higher mortality rate and a much lower gross total resection rate than centres in high-income countries.

Ependymomas

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 RELA fusion-positive ependymoma has been renamed into ZFTA fusion-positive and the novel YAP1 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 MYCN 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.

SURG-30. SURGICAL MANAGEMENT OF A RARE SACROCOCCYGEAL MYXOPAPILLARY EPENDYMOMA OF THE GLUTEAL REGION: CASE ILLUSTRATION AND SYSTEMATIC LITERATURE REVIEW

Abstract Ependymomas are rare tumors originating from neuroepithelial cells lining the wall of the ventricles or central canal of the spinal cord. While these tumors mainly occur within the central nervous system (CNS), there are occasional reports in children and young adult patients with a primary tumor occurrence outside of the CNS. Ependymomas of the sacrococcygeal region have been infrequently described in the literature with no standard of care established. We present a case report and review of the literature regarding this rare entity. A 24-year-old woman presented with right gluteal pain worsened by sitting and a palpable soft tissue mass of the sacrococcygeal region. Magnetic resonance imaging revealed a 3.7 cm cystic mass centered in the right gluteal region. Histology revealed myxopapillary ependymoma. The patient underwent an interdisciplinary neurosurgical and orthopedic oncology en bloc resection of the ependymoma, which intraoperatively appeared to originate from the coccygeal nerve. Through our systematic literature review, we identified 38 studies describing 78 unique cases of myxopapillary ependymoma occurring in the sacrococcygeal region without extension into the CNS. The exact presentation of sacrococcygeal ependymomas is variable. Given their location and propensity for drainage, they are frequently misdiagnosed as pilonidal cyst. Recurrence occured in 16.7% of cases described, typically within 20 years. Rate of metastasis was 20%. The primary means of management for sacrococcygeal myxopapillary ependymoma is complete surgical resection including excision of the neighboring sacrum or coccyx, when involved. Ultimately, we demonstrate that a myxopapillary ependymoma may present as an isolated gluteal mass attached to the coccygeal nerve, without frank CNS involvement. Furthermore, an interdisciplinary approach to surgical resection of this lesion appears to represent an effective treatment modality.

PATH-25. LEPTOMENINGEAL, DURAL, AND EXTRACRANIAL METASTASIS OCCUR IN DIVERSE TYPES OF ADULT HIGH-GRADE GLIOMA

Abstract BACKGROUND Leptomeningeal and extracranial metastases in adult high-grade gliomas are being increasingly recognized as critical issues. Our group has a longstanding interest in this issue, having published multiple examples in 2015 (PMID: 26308254) and 1996 (8617464). We now update our experience, illustrating that dissemination can occur in diverse types of high-grade gliomas, even those with purportedly more favorable prognoses. METHODS Search of records, 2018-present, to identify patients with leptomeningeal, dural, and/or extracranial spread clinically recognized prior to patient demise. RESULTS Leptomeningeal dissemination was identified in 6 patients: one astrocytoma (frontal lobe, IDH1 R132H+, metastatic to 3-levels spinal cord), a second astrocytoma (frontal lobe, IDH1 R132H+, metastatic to spinal cord with intracranial dissemination), one glioblastoma, small cell type (PIK3CA, CDH1, TP53 mutations, temporal lobe metastatic to cervical cord), one high-grade glioma with piloid features (HGAP, metastatic at presentation; BRAF-mutant, classified by DNA methylation (NIH)) and one high-grade glioma with no match to DNA methylation class (metastatic at presentation, NIH). There were three additional patients: one patient with glioblastoma with FGFR: TACC3 fusion with short-interval dural and cervical lymph node metastases (in Press), one patient with glioblastoma with EGFR amplification and dural invasion and one patient with glioblastoma with massive dural spread and bony invasion at presentation. CONCLUSION Although these new 9 individual cases provide no insights into the epidemiology of GBM leptomeningeal, dural and extracranial metastases, our single-institution series, using updated molecular classifications not always available in retrospective studies, shows that dissemination can occur in any, and all, types of adult high-grade gliomas. We put this cohort in perspective with our experience with dissemination in other low and high-grade tumor types: anaplastic myxopapillary ependymomas (30417460), H3 K27M-altered high-grade gliomas (29393845), pineal parenchymal tumors of intermediate differentiation (34418607), myxoid glioneuronal tumor, PDGFRA-mutant (34297434) and spinal cord gangliogliomas (25015869).

CTNI-58. IMPROVING TRIAL ACCESS FOR PEOPLE WITH RARE CNS TUMORS: AN NCI-CONNECT PHASE I/II TRIAL OF PLX038 IN TUMORS WITH MYC/MYCN AMPLIFICATIONS INCORPORATING CORRELATIVE STUDIES AND PATIENT REPORTED OUTCOMES

Abstract MYC genes encode transcription factors that regulate expression of genes involved in cell division. Supraphysiologic levels of MYC drive oncogenesis in many human cancers and induce the formation of topoisome complexes, essential to managing the torsional strain that would otherwise oppose transcription and replication. MYC/MYCN amplifications are seen in multiple primary CNS tumors including 30% of relapsed medulloblastomas (MB) and a subtype of ependymoma (EPN) where MYCN amplification defines the tumor. PLX038 is a PEGylated macromolecule containing the topoisomerase I inhibitor SN-38. PEGylations lead to longer half-life, tumor accumulation and decreased toxicity. We hypothesize that PLX038 will be efficacious in primary CNS tumors driven by MYC/MYCN amplifications by targeting the MYC-induced topoisome (Das, S.K. 2022 DOI10.1016/j.molcel.2021.11.016). METHODS Trial in development. Design/Objectives: Phase I (N = 12) – determine the maximum tolerated dose and recommended phase 2 dose of PLX038 in recurrent primary CNS tumors using TITE-BOIN design. Phase II - 3 independent cohorts, N = 30 for each group with interim analysis after 10 each: 2A - MYC-N amplified EPN post resection and radiotherapy (PFS); 2B - Recurrent MYCN amplified EPN or MYC/MYCN amplified MB (disease control rate, DCR); 2C - Other recurrent primary CNS tumors with MYC/MYCN amplifications (DCR). Additional measures: PROs from the Office of Patient-Centered Outcomes Research (OpCORe) web-based early phase trial endpoints; biomarkers of PLX038 distribution and response/resistance in peripheral blood, tumor tissue, hair follicles, and abdominal wall fat pad tissue. CONCLUSIONS NCI-CONNECT’s commitment to innovative designs can mitigate some of the barriers to access experimental therapy for people with rare CNS tumors. This basket trial will enroll participants with unifying molecular features and potential susceptibility to PLX038 despite different histological diagnoses. Furthermore, incorporation of comprehensive PROs will help identify clinical benefit and tolerability while correlative studies in tumor and other tissues will help identify biomarkers of response or resistance.

Epigenetic Alterations of Repeated Relapses in Patient-matched Childhood Ependymomas

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.

Ubiquitin Proteasome Gene Signatures in Ependymoma Molecular Subtypes.

The ubiquitin proteasome system (UPS) is critically important for cellular homeostasis and affects virtually all key functions in normal and neoplastic cells. Currently, a comprehensive review of the role of the UPS in ependymoma (EPN) brain tumors is lacking but may provide valuable new information on cellular networks specific to different EPN subtypes and reveal future therapeutic targets. We have reviewed publicly available EPN gene transcription datasets encoding components of the UPS pathway. Reactome analysis of these data revealed genes and pathways that were able to distinguish different EPN subtypes with high significance. We identified differential transcription of several genes encoding ubiquitin E2 conjugases associated with EPN subtypes. The expression of the E2 conjugase genes UBE2C, UBE2S, and UBE2I was elevated in the ST_EPN_RELA subtype. The UBE2C and UBE2S enzymes are associated with the ubiquitin ligase anaphase promoting complex (APC/c), which regulates the degradation of substrates associated with cell cycle progression, whereas UBE2I is a Sumo-conjugating enzyme. Additionally, elevated in ST_EPN_RELA were genes for the E3 ligase and histone deacetylase HDAC4 and the F-box cullin ring ligase adaptor FBX031. Cluster analysis demonstrated several genes encoding E3 ligases and their substrate adaptors as EPN subtype specific genetic markers. The most significant Reactome Pathways associated with differentially expressed genes for E3 ligases and their adaptors included antigen presentation, neddylation, sumoylation, and the APC/c complex. Our analysis provides several UPS associated factors that may be attractive markers and future therapeutic targets for the subtype-specific treatment of EPN patients.

Drop foot and adult onset tethered cord syndrome caused by filum terminal ependymoma: A case report

Introduction: Filum terminal is a fibrous tissue to stabilize the position of the spinal cord, located in both intradural and extradural sections anchored caudally to the coccyx. Tumors located at the filum terminal are a rare case. Filum terminal does not have any spinal cord component, but tumours in that area can directly cause a significant neurological disorder. Case Presentation: Presenting 43 years old man with chief complaints of drop left foot and tethered cord syndromes. MR Image revealed 9,4x10mm intradural extramedullary mass at L1 with L1-L5 disc desiccation. The patient was untethered by laminectomy and underwent total mass excision. The sample was analyzed pathologically, and the results matched myxopapillary ependymoma. Pain sensation and sensory disturbance immediately improved after surgery. The urinary disorder also gradually improved. The patient was discharged without any urinary problems. After six months of follow-up, painless, mild left lower drop foot and mild gait disturbance was found without residual urinary and other neurological disorder. Conclusion: Filum terminal ependymomas need to be considered for differential diagnoses in patients with drop foot and adult-onset tethered cord syndromes.

Clinical features and surgical outcomes of intracranial and spinal cord subependymomas.

Subependymomas are low-grade ependymal tumors whose clinical characteristics, radiographic features, and postsurgical outcomes are incompletely characterized due to their rarity. The authors present an institutional case series and a systematic literature review to achieve a better understanding of subependymomas. Adult patients with histologically confirmed subependymoma or mixed subependymoma-ependymoma surgically treated at a tertiary hospital between 1992 and 2020 were identified. A systematic literature review of the PubMed, Embase, Web of Science, and Google Scholar databases from inception until December 4, 2020, was conducted according to PRISMA guidelines. Data extracted from both groups included demographics, radiographic features, tumor characteristics, management, and follow-up variables. Forty-eight unique patients with subependymoma were identified by chart review; of these patients, 8 (16.7%) had mixed subependymoma-ependymoma tumors. The median age at diagnosis was 49 years (IQR 19.8 years), and 26 patients (54.2%) were male. Forty-two patients (87.5%) had intracranial subependymomas, and 6 (12.5%) had spinal tumors. The most common presentation was headache (n = 20, 41.7%), although a significant number of tumors were diagnosed incidentally (n = 16, 33.3%). Among the 42 patients with intracranial tumors, 15 (35.7%) had hydrocephalus, and the most common surgical strategy was a suboccipital approach with or without C1 laminectomy (n = 26, 61.9%). Gross-total resection (GTR) was achieved in 33 cases (68.7%), and 2 patients underwent adjuvant radiotherapy. Most patients had no major postsurgical complications (n = 34, 70.8%), and only 1 (2.1%) had recurrence after GTR. Of 2036 reports initially identified in the systematic review, 39 were eligible for inclusion, comprising 477 patients. Of 462 patients for whom tumor location was reported, 406 (87.9%) were intracranial, with the lateral ventricle as the most common location (n = 214, 46.3%). Spinal subependymomas occurred in 53 patients (11.5%), with 3 cases (0.6%) in multiple locations. Similar to the case series at the authors' institution, headache was the most common presenting symptom (n = 231, 54.0%) among the 428 patients whose presentation was reported. Twenty-seven patients (6.3%) were diagnosed incidentally, and 36 cases (8.4%) were found at autopsy. Extent of resection was reported for 350 patients, and GTR was achieved in 250 (71.4%). Fifteen of 337 patients (4.5%) had recurrence or progression. The authors' case series and literature review demonstrate that patients with subependymoma are well managed with resection and generally have a favorable prognosis.

Pathological Classification of the Intramedullary Spinal Cord Tumors According to 2021 World Health Organization Classification of Central Nervous System Tumors, a Single-Institute Experience.

According to the new 2021 World Health Organization (WHO) classification of tumors of the central nervous system (CNS) the classification of the primary intramedullary spinal cord tumors (IM-SCT) follows that of CNS tumors. However, since the genetics and methylation profile of ependymal tumors depend on the location of the tumor, the ‘spinal (SP)’ should be added for the ependymoma (EPN) and subependymoma (SubEPN). For an evidence-based review, the authors reviewed SCTs in the archives of the Seoul National University Hospital over the past decade. The frequent pathologies of primary IM-SCT were SP-EPN (45.1%), hemangioblastoma (20.0%), astrocytic tumors (17.4%, including pilocytic astrocytoma [4.6%] and diffuse midline glioma, H3 K27-altered [4.0%]), myxopapillary EPN (11.0%), and SP-subEPN (3.0%) in decreasing order. IDH-mutant astrocytomas, oligodendrogliomas, glioneuronal tumors, embryonal tumors, and germ cell tumors can occur but are extremely rare in the spinal cord. Genetic studies should support for the primary IM-SCT classification. In the 2021 WHO classifications, extramedullary SCT did not change significantly but contained several new genetically defined types of mesenchymal tumors. This article focused on primary IM-SCT for tumor frequency, age, sex difference, pathological features, and genetic abnormalities, based on a single-institute experience.

Extra-Neural Metastases of Late Recurrent Myxopapillary Ependymoma to Left Lumbar Paravertebral Muscles: Case Report and Review of the Literature

Ependymomas are commonly classified as low-grade tumors, although they may harbor a malignant behavior characterized by distant neural dissemination and spinal drop metastasis. Extra-CNS ependymoma metastases are extremely rare and only few cases have been reported in the lung, lymph nodes, pleura, mediastinum, liver, bone, and diaphragmatic, abdominal, and pelvic muscles. A review of the literature yielded 14 other case reports metastasizing outside the central nervous system, but to our knowledge, no studies describe metastasis in the paravertebral muscles. Herein, we report the case of a 39-year-old patient with a paraspinal muscles metastasis from a myxopapillary ependymoma. The neoplasm was surgically excised and histologically and molecularly analyzed. Both the analyses were consistent with the diagnosis of muscle metastases of myxopapillary ependymoma. The here-presented case report is first case in the literature of a paraspinal muscles metastasis of myxopapillary ependymoma.

Factors Affecting Long-Term Surgical Outcomes of Spinal Extramedullary Ependymomas: A Retrospective Study

Spinal intradural-extramedullary ependymomas (IEEs) most commonly affect the lumbosacral spine. Because of their neural axis dissemination and adherence to neural structures, managing IEEs is still a controversial neurosurgical challenge. The study aimed to investigate the potential prognostic factors that influence long-term surgical outcomes by evaluating consecutively operated patients with IEEs. During the study period, medical records of all diagnosed patients with spinal tumors were reviewed retrospectively. This study included all patients with consecutive IEEs who underwent surgical intervention in 3 neurosurgical institutions in different periods (February 2004 to December 2020). In 3 neurosurgical institutions, 64 (28 women, 36 men) patients were operated upon for IEE. The mean age of the patients at diagnosis was 38.9years. The mean preoperative symptom duration was 17.8months. Radicular pain was the most common symptom, observed in 53 patients. Gross total resection was applied to 48 patients. 54 patients had good clinical outcomes at their last follow-up after 106.9months on average. Myxopapillary ependymoma was the most common histopathological type (n= 43). The progression was observed in 5 patients. The presence of preoperative neurological deficits, IEEs extending >2 spinal levels, bone-eroded IEEs, surgical complication, capsule violation, and incomplete resection were associated with poor prognosis. Several clinical and surgical factors can affect the functional outcomes of the surgical treatment of IEEs. Some radiological features can make neurosurgeons aware of the prognosis of IEEs. In such cases, the neurosurgeons should plan to remove tumors without violating their integrities (capsules) to obtain satisfactory functional outcomes.

Pediatric intracranial ependymoma—a single-center clinical analysis and literature review

Background: Pediatric intracranial ependymoma (EPN) is an important central nervous system neoplasm, and has a high recurrence rate. The data on Chinese children with EPN are limited. This study sought to explore the characteristics of pediatric EPN at a single center in China.

11 Years Old Female with Synergistic Presentation of Cranial and Spinal Pathologies: Myxopapillary Ependymoma with Hydrocephalus - A Rare Entity

The correlation between hydrocephalus and spinal cord tumor was first described by Kyrieleis et. al. 1% concomitant presence was documented by Mirroni et.al. Moreover, the understanding of the pathophysiological association between these two conditions is still lacking. 11 years old girl presented in the outpatient department of Jinnah hospital Lahore with complaints of difficulty in walking for the last 2 years, numbness of right leg for the last one year, and severe bilateral sciatica for 2 months. On further inquiry, she told that she is also suffering from headaches and blurred vision for the last 6 months. Her neuroimaging revealed hydrocephalus and mixed density heterogeneously enhancing intradural lesion at the conus. She underwent ventriculoperitoneal shunting for hydrocephalus and laminoplasty followed by excision of spinal tumor reported being myxopapillary ependymoma grade II. The presence of headache along with signs &amp; symptoms of raised intracranial pressure in these patients warrant cranial imaging. CSF diversion for hydrocephalus and gross total excision of the spinal lesion is the standard acceptable treatment.

Sox9 directs divergent epigenomic states in brain tumor subtypes

Epigenetic dysregulation is a universal feature of cancer that results in altered patterns of gene expression that drive malignancy. Brain tumors exhibit subtype-specific epigenetic alterations; however, the molecular mechanisms responsible for these diverse epigenetic states remain unclear. Here, we show that the developmental transcription factor Sox9 differentially regulates epigenomic states in high-grade glioma (HGG) and ependymoma (EPN). Using our autochthonous mouse models, we found that Sox9 suppresses HGG growth and expands associated H3K27ac states, while promoting ZFTA-RELA (ZRFUS) EPN growth and diminishing H3K27ac states. These contrasting roles for Sox9 correspond with protein interactions with histone deacetylating complexes in HGG and an association with the ZRFUS oncofusion in EPN. Mechanistic studies revealed extensive Sox9 and ZRFUS promoter co-occupancy, indicating functional synergy in promoting EPN tumorigenesis. Together, our studies demonstrate how epigenomic states are differentially regulated in distinct subtypes of brain tumors, while revealing divergent roles for Sox9 in HGG and EPN tumorigenesis.