Spinal Glioma Research Articles

Chinese expert consensus on diagnosis and treatment of spinal cord glioma

Spinal cord glioma is a group of tumors originated from spinal cord glial cells. They typically have an insidious onset, with early symptoms in patients including sensory disturbances, motor disorder, and sphincter dysfunction. When the course of disease develops to a certain extent, it can lead to paralysis, dyspnea, and even result in death. The spinal cord bears the role of nerve conduction, and acts as a lower central hub for somatic and visceral activities and primary neural reflexes. Because the self-repair ability after injury is limited, spinal cord injury caused by tumor and treatment may be permanent, potentially causing huge economic and social burden. To further standardize the diagnosis and treatment of spinal cord glioma, the expert group formulated The Chinese Expert Consensus on the Diagnosis and Treatment of Spinal Cord Glioma according to the current situation of diagnosis and treatment of spinal cord glioma at home and abroad. This consensus elaborates the epidemiology, natural course, clinical manifestations, diagnosis, treatment, follow-up, and prognosis of spinal gliomas and formulates 17 recommendations. It aims to offer reference for medical personnel and other related individuals.

Impact of Microsurgery and Postoperative Radiotherapy on Neurological Function in Intramedullary Spinal Cord Gliomas.

To assess the clinical efficacy of combined microsurgery and postoperative radiotherapy for the treatment of intramedullary spinal gliomas and its impact on neurological function. An observational study. Place and Duration of the Study: Department of Neurosurgery, Baoding No.1 Central Hospital, Hebei, China, between January 2020 and 2023. Sixty patients diagnosed with spinal cord intramedullary gliomas were divided equally into an experimental and control group. The control group received microsurgical treatment, and the experimental group received microsurgical treatment combined with postoperative radiotherapy. The treatment effectiveness, neurological function, and follow-up results of the two groups were compared. After treatment, the clinical efficacy of the experimental group treatment was significantly better than that of the control group (p <0.05). The National Institutes of Health Stroke Scale (NIHSS) scores were significantly lower, and the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire-30 (EORTC QLQ-C30) scores were significantly higher in the experimental group than in the control group (p <0.05). The 1-3-year survival rate and median survival time of the experimental group were significantly higher than those of the control group (p <0.05). The incidence of complications was 3.33% in the experimental group and 6.67% in the control group, but the difference was not statistically significant (p >0.05). The postoperative recurrence rate was significantly lower in the experimental (0%) than in the control group (13.33%, p <0.05). Combined microsurgery and postoperative radiotherapy was found to be more effective than microsurgery alone. It was also more conducive to the recovery of neurological function and improved the patient's quality of life. Intramedullary spinal cord glioma, Microsurgery, Neurological function, Radiotherapy.

A comprehensive evaluation of imaging features in pediatric spinal gliomas and their value in predicting tumor grade and histology

PurposePediatric spinal cord gliomas (PSGs) are rare in children and few reports detail their imaging features. We tested the association of tumoral grade with imaging features and proposed a novel approach to categorize post-contrast enhancement patterns in PSGs.MethodsThis single-center, retrospective study included patients <21 years of age with preoperative spinal MRI and confirmed pathological diagnosis of PSG from 2000-2022. Tumors were classified using the 5th edition of the WHO CNS Tumors Classification. Two radiologists reviewed multiple imaging features, and classified enhancement patterns using a novel approach. Fisher's exact test determined associations between imaging and histological features.ResultsForty-one PSGs were reviewed. Thirty-four were intramedullary, and seven were extramedullary. Pilocytic astrocytoma was the most common tumor (39.02%). Pain and weakness were the most prevalent symptoms. Seven patients (17.07%) died. Cyst, syringomyelia, and leptomeningeal enhancement were associated with tumor grade. Widening of the spinal canal was observed only in low-grade astrocytomas. There was a significant association between tumor grade and contrast enhancement pattern. Specifically, low-grade PSGs were more likely to exhibit type 1A enhancement (mass-like, with well-defined enhancing margins) and less likely to exhibit type 1B enhancement (mass-like, with ill-defined enhancing margins).ConclusionPSGs display overlapping imaging features, making grade differentiation challenging based solely on imaging. The correlation between tumor grade and contrast enhancement patterns suggests a potential diagnostic avenue, requiring further validation with larger, multicenter studies. Furthermore, Low-grade PSGs display cysts and syringomyelia more frequently, and leptomeningeal enhancement is less common.

LGG-16. BRAFV600K LOW-GRADE GLIOMA EMERGENCE DURING THERAPY FOR BRAFV600E HIGH-GRADE GLIOMA

Abstract BACKGROUND BRAFV600E mutations are prevalent in pediatric brain tumors, constituting 20% of low-grade and 5% of high-grade gliomas. Other single-nucleotide substitutions in BRAF are described in adult cancers but rarely in pediatric brain tumors. Our case sheds light on a unique scenario—a patient with a BRAF-mutated high-grade spinal glioma who later developed slowly progressive intracranial low-grade glioma, subsequently undergoing rapid high-grade transformation. METHODS Case Report RESULTS Our patient initially presented as a thirteen-year-old male with a two-month history of progressive bilateral hand weakness/paresthesias. Spine MRI revealed a fusiform expansile intramedullary neoplasm from C3-T2, brain MRI was negative. Biopsy showed an anaplastic astrocytoma with BRAFV600E mutation and MYC-N amplification. Initial treatment included proton radiation and a 2-year course of Dabrafenib/Trametinib, maintaining disease stability. After four months off therapy, he developed local progression, and re-staging brain MRI showed new cerebellar/supratentorial lesions. Dabrafenib/Trametinib was re-started until progression two years later. He developed hydrocephalus and underwent ETV and brain tumor biopsy, which revealed a low-grade glioma with BRAFV600K mutation. At this point, Dabrafenib/Trametinib continued for another 1.5 years; he exhibited slow progression of the brain tumors before a cerebellar lesion developed rapid progression. He had GTR of the rapid-growing lesion, and pathology reported a Grade 4 invasive astrocytoma harboring BRAFV600E, two VUS MTOR mutations, and MGMT promoter methylation. Current treatment involves radiation therapy concurrent with temozolomide. CONCLUSIONS While combinatorial Dabrafenib/Trametinib is effective in glioma therapy, resistance and progression challenges persist. Our case presents a unique manifestation—a patient with a spinal high-grade glioma with BRAFV600E who developed a secondary low-grade glioma with BRAFV600K in the brain, which, after several years, transformed into a high-grade glioma. Future research is crucial for comprehending the intricate role of BRAF mutations in pediatric gliomas, paving the way for improved patient outcomes.

A novel lateral myelotomy approach for the treatment of lateral or ventrolateral spinal gliomas.

To describe a novel surgical approach in which myelotomy was performed lateral to the dorsal root entry zone (LDREZ), for the treatment of lateral or ventrolateral spinal intramedullary glioma. This study reviewed six patients with lateral or ventrolateral spinal intramedullary glioma who received surgical treatments by using myelotomy technique of LDREZ approach. The patient's clinical characteristics, magnetic resonance imaging (MRI) results, and follow-up outcomes were analyzed. The neurological function of patients before and after operation was assessed based on the Frankel scale system. The anatomical feasibility, surgical techniques, advantages and disadvantages of LDREZ approach were analyzed. Myelotomy technique of LDREZ approach was employed in all 6 patients. Gross total resections were achieved in 4 patients, and 2 patients with astrocytoma (case 2, 6) underwent partial removal. The perioperative recovery was all smooth and all the patients were discharged on schedule. All the patients who suffered from neuropathic pain were relieved. After surgery, neurological function remained unchanged in 3 patients. 2 patients improved from Frankel grade B to C, and 1 patient deteriorated from Frankel grade D to C immediately after surgery and returned to Frankel grade D at 3 months follow-up. Regarding to the poor prognosis of high-grade glioma, the two cases with WHO IV glioma didn't achieve long survival. LDREZ approach is feasible and safe for the surgical removal of lateral or ventrolateral spinal gliomas. This approach can provide a direct pathway to lateral or ventrolateral spinal gliomas with minimal damage to normal spinal cord.

Molecular insights and the role of 18F-FDG-PET/CT in the diagnosis of spinal gliomas.

In recent years, molecular findings on spinal gliomas have become increasingly important. This study aimed to investigate the role of 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG-PET/CT) in the diagnosis of spinal glioma. This study included patients diagnosed with spinal cord glioma who underwent 18F-FDG-PET examination at the Department of Neurosurgery, Nagoya University Hospital between January 2016 and November 2023. The gliomas were divided into two groups, high-grade and low-grade, based on pathological and molecular studies. The maximum standardized uptake values (SUVmax) of the tumors were quantified and subsequently represented using receiver operating characteristic (ROC) curves. Eighteen participants were included in this study. Of the participants, seven had high-grade glioma with an SUVmax of 6.76 ± 0.72, and eleven had low-grade glioma with an SUVmax of 4.02 ± 1.78, and a statistically significant difference between the two groups. The ROC curve delineated an SUVmax cutoff value of 5.650, with an area under the curve (AUC) of approximately 0.909. Based on the cutoff value, the results of the diagnostic performance rendered a sensitivity and negative predictive value of 1.0, whereas the specificity and positive predictive value were 0.909 and 0.875, respectively. The present study shows that 18F-FDG-PET exhibits a markedly sensitive and negative predictive value in the assessment of spinal gliomas. Additionally, these findings have potential implications for the qualitative assessment of spinal gliomas using 18F-FDG-PET/CT. This imaging modality may be useful for making timely treatment decisions in situations where a detailed diagnosis by molecular analysis is not possible.

Exploring disparities in surgical recommendations for patients with primary intramedullary spinal cord tumors: an analysis of the Surveillance, Epidemiology, and End Results database from 2000 to 2019.

Factors that may drive recommendations for operative intervention for patients with intramedullary spinal cord tumors (ISCTs) have yet to be extensively studied. The authors investigated racial and socioeconomic disparities in the management of patients with primary spinal cord ependymomas and nonependymal gliomas, with the aim of determining the associations between socioeconomic patient characteristics, survival, and recommendations for the resection of primary ISCTs. The Surveillance, Epidemiology, and End Results registry was queried to identify all patients > 18 years of age with ISCTs diagnosed between 2000 and 2019. Univariable and multivariable logistic regression analyses were used to calculate odds ratios for variables associated with receiving a surgical recommendation. Log-rank tests and multivariable Cox proportional hazards models were used to investigate overall survival (OS) and disease-specific survival (DSS). The authors identified 2325 patients (mean age 49 [SD 16] years; 48.8% female; 67.4% non-Hispanic White, 7.8% non-Hispanic Black, 16.2% Hispanic, 6.5% Asian/Pacific Islander, 0.6% Native American; 56.7% married; 64.4% with household income < $75,000; 73.8% with spinal ependymoma; and 26.2% with nonependymal spinal glioma). Eighty-seven percent of patients received a surgical recommendation. In multivariable models, marriage was associated with higher odds of receiving a surgical recommendation for ependymomas (OR 1.80, p = 0.005). In multivariable models for nonependymal spinal gliomas, older age (OR 0.98, p = 0.001) and increased number of tumors (OR 0.62, p = 0.015) were associated with decreased odds of receiving surgical recommendations. Among ependymomas, marriage (HR 0.59, p = 0.001), younger age (HR 0.93, p < 0.001), female sex (HR 0.43, p = 0.006), and decreased number of tumors (HR 0.56, p < 0.001) were associated with improved OS. Among nonependymal spinal gliomas, median household income ≥ $75,000 (HR 0.69, p = 0.020) and younger age (HR 0.98, p < 0.001) were associated with improved DSS, while Black race (HR 4.65, p = 0.027) and older age (HR 1.05, p < 0.001) were associated with worse OS. In patients with spinal ependymomas and nonependymal spinal gliomas, recommendations for surgery appear to be unaffected by patient sex, race, or income. Survival disparities appear to exist among unmarried, male, Black, and lower-income cohorts. Continued initiatives to identify drivers of disparities while improving health equity in this patient population are needed.

Fractionated radiotherapy for spinal tumors: A literature review regarding spinal glioma, ependymoma, and meningioma.

Radiation therapy plays a vital role in the management of primary spinal tumors in adults. However, due to the rarity of these tumor types, the literature on optimal treatment indications and radiation doses is limited. Many treatment recommendations are extrapolated from their cranial counterparts, where more data are available. Despite the absence of prospective data, numerous retrospective studies have provided valuable insights to guide treatment decisions until more comprehensive data become available. This review provides an overview of the most relevant literature, with a specific focus on spinal gliomas, ependymomas, and meningiomas, in the context of the role of radiation therapy.

P11.22.B ANALYSIS OF FACTORS RELATED TO POSTOPERATIVE RECURRENCE AND PROGNOSIS ABOUT HIGH GRADE SPINAL CORD GLIOMAS

Abstract BACKGROUND High grade spinal glioma (HGSG), an extremely rare tumor, accounts for about 7-30% of spinal glioma. Its incidence is only 0.22/100000. The tumor has a rapid clinical progression and a poor prognosis, with a median survival time of 12-24 months. In previous studies on the prognosis of HGSG, the factors related to the prognosis are quite different due to inconsistent tumor classification and diagnosis criteria. It is rarer in the study of postoperative recurrence. Therefore, various factors limit the clinician’s judgment on the factors related to the recurrence and prognosis of HGSG after surgery. MATERIAL AND METHODS In this study, the clinical data of 44 patients who were pathologically diagnosed with HGSG and admitted to the Department of Neurosurgery of Beijing Tsinghua Changgung Memorial Hospital from January 1, 2015 to January 1, 2020 were retrospectively analyzed. The postoperative recurrence and death were considered as the research end time, the individual characteristics, imaging characteristics, pathological characteristics, age in treatment, gender, McCormick score, tumor location, WHO grade, tumor volume, degree of resection, radiotherapy, chemotherapy, and H3K27M expression, Ki-67 index, and P53 expression were included in the COX regression model for the univariate and multivariate analysis. The factors related to the recurrence and prognosis of HGSG after surgery were further explored. RESULTS The median recurrence-free duration of 44 patients with HGSG was 13.0 months, and the recurrence-free rates of 6 months and 1 year after surgery were 75.0% and 51.9%; the median survival time of the enrolled patients was 21.0 months. The multivariate COX regression analysis on the recurrence of HGSG after surgery showed that the risk of the recurrence was higher in the III-IV group than that the I-II group for the McCormick score ( p=0.001). For WHO grade, the risk of the recurrence was higher in the IV group than that in the III group (p=0.029). The multivariate COX regression analysis on that survival after HGSG surgery showed that the risk of the death was higher in the III-IV group than that in the I-II group for the McCormick score (p=0.006), and the risk of the death was higher for the tumor in the cervical segment than that in the cervical thoracic segment ( p=0.005), thoracic segment ( p=0.003), thoracolumbar segment ( p=0.011). The risk of the death was higher in the H3K27M positive group ( p=0.014) than that in the H3K27M negative group. 0.049). CONCLUSION HGSG, as a highly malignant tumour, exhibits rapid progression even after surgical treatment. For future post-operative recurrence and prognosis determination of HGSG, there is a need to focus on assessing the preoperative spinal cord functional status, tumour location, WHO classification and H3K27M mutation status to assist clinicians in giving the best treatment plan.

P20.12.B DNA METHYLATION PROFILING OF ADULT SPINAL GLIAL TUMOURS; RESULTS FROM A LARGE SINGLE CENTRE STUDY

Abstract BACKGROUND Glial tumours can occur in any central nervous system location, including the spinal cord. Although rare, spinal gliomas can represent a significant diagnostic challenge and are recognised as separate tumour types in the WHO classification. MATERIAL AND METHODS This study used DNA methylation profiling to characterise adult spinal glial tumours from a large neurosurgical centre, exploring relative frequencies, and the value of this technique in diagnostic workflows. A search in our laboratory information management system (2006-2021) identified 116 tumours, from patients aged 17.2-79.2 years. Diagnoses included ependymomas (all grades/subtypes) and other high- or low-grade gliomas (HGG/LGG). Extrinsic tumours (metastases, meningiomas, schwannomas) were excluded. DNA underwent methylation profiling (Illumina EPIC BeadArrays, n=116). iDat files were processed using the brain tumour classifier (MNP v12.5 R package), classifying cases against a reference cohort (n=2,800). Longitudinal (n=8) and poor QC cases (n=3) were excluded. RESULTS 83% (n=87) classified as an ependymoma (myxopapillary ependymoma (EPN_MPE, n=44), spinal ependymoma (n=43), spinal subependymoma (n=1)). We identified HGGs that were not diagnosed histologically (diffuse midline glioma, H3 K27-altered (n=2), high-grade astrocytoma with piloid features (n=1)) and 41% of cases (n=18/44) diagnosed histologically as an ependymoma, CNS WHO grade 2, classified as EPN_MPE. LGGs were less frequent (pilocytic astrocytoma (n=3), pleomorphic xanthoastrocytoma (n=1), rosette-forming glioneuronal tumour (n=1)). 9% (n=9) did not classify with existing methylation classes. Copy number analysis revealed subtype-specific changes, including prognostic alterations. CONCLUSION In conclusion, this single-centre study highlights the crucial role of DNA methylation profiling as part of diagnostic workflows for spinal glial tumours.

DIPG-42. Diffuse midline gliomas, H3K27-altered as an interdisciplinary challenge

INTRODUCTION: Diffuse midline gliomas represent a particular challenge in treatment. DIPG behave like highly malignant glioma with extremely poor prognosis due to location and inoperability. Molecular genetic studies, complementary to classical histopathology, have found an entity for midline gliomas, newly described ten years ago and entered the WHO classification in 2016. This group of childhood tumor with DMG’s, H3K27-altered will be demonstrated in the following with 14 case reports from our clinic. METHODS: Clinical data of four patients with tectum/thalamic gliomas, six with diffuse intrinsic brainstem glioma, two with cerebellar, one with suprasellar, one with spinal glioma were retrospectively studied. MRI data, volume increase, contrast behavior was also analyzed. Tumor tissue was obtained by various surgical procedures and diagnostic workup included histopathology as well as genetics and epigenetics. RESULTS: 14 pediatric patients were treated from 2012 to 2021, median age 7,5 years. Leading symptoms were hydrocephalus, movement disorders, cranial nerve disorders. Four patients (29%) were partially resected, two (14%) received extended biopsy, seven (50%) were (stereo tactically) biopsied, one diagnosed by liquid biopsy (7%). Histological results revealed the presence of GBM in four cases (29 %). Subsequent methylome analyses confirmed that the tumors belonged to the group of diffuse midline gliomas, H3K27-altered. The other ten tumors (71%) were primarily assigned to this H3K27 group. CONCLUSION: The pediatric tumors of the brainstem, the further midline structures, including intraspinal manifestation show different MRI findings, histology, and clinical course. Complementary molecular genetic diagnosis is essential and a meaningful addition to the histological assignment. It is considered proven that the exclusivity of H3K27 – altered tumors of children and adolescents differs from that of IDH mutated gliomas and glioblastomas by their localization of hemispheric processes. Possible therapeutic approaches using targeted therapy require understanding of these oncological mechanisms.

Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations

We present the case of a 41-year-old man who developed worsening mid-thoracic back pain and imaging revealed a well-circumscribed intramedullary tumor in the thoracic spinal cord. Subtotal resection was performed, and histopathological analysis showed a cytologically bland, minimally proliferative glial neoplasm. Sequencing revealed H3 K27M and an activating PTPN11 mutation. Serial imaging revealed slow tumor regrowth over a three year period which prompted a second resection. The recurrent tumor displayed a similar low grade-appearing histology and harbored the same H3 K27M and PTPN11 mutations as the primary. While the prognostic importance of isolated H3 K27M in spinal gliomas is well-known, the combination of these two mutations in spinal low grade glioma has not been previously reported. Importantly, PTPN11 is a component of the MAPK signaling pathway. Thus, as building evidence shows that low grade-appearing gliomas harboring H3 K27M mutations along with BRAF or FGFR1 mutations have a relatively more favorable course compared to isolated H3 K27M-mutant midline gliomas, the present case provides new evidence for the prognostic importance of activating mutations in other components of the MAPK signaling pathway. This case further highlights the importance of clinico-radio-pathologic correlation when incorporating evolving genetic data into the integrated diagnosis of rare neuroepithelial tumors.

Therapeutic Approaches in Adult Primary Spinal Cord Astrocytoma: A Systematic Review.

Simple SummaryAdult primary spinal cord astrocytoma (SCA) is a very rare disease, with no standardized consensus about its therapy. We focus on treatment efficacy based on systematic review: only 18 papers were eligible for the analysis, including 285 patients. No clinical trials results were available. Not enough data were extracted to determine a univocal treatment plan for SCA. Given the rarity of these diseases, a collaboration among institutions is mandatory to establish a standard for study conduction (homogenous inclusion criteria and method of analysis), to perform homogenous studies and define future evidence-based recommendation. Contextually, multicentric clinical trials with molecular investigations are strongly advised to better manage SCA and unveil their biology.The issue: Gliomas are primary tumors arising from supporting cells of the central nervous system (CNS), usually in the brain. The 2021 World Health Organization (WHO) classifies gliomas as adult-type diffuse gliomas or circumscribed astrocytic gliomas depending on their histology and molecular features. Spinal astrocytic gliomas are very rare, and nowadays no standard of therapy is available. Treatment options are limited: surgery is often not radical, and adjuvant therapies include mostly radiotherapy (RT) or systemic chemotherapy (CHT). There is lack of knowledge about the efficacy and safety of therapies and their multidisciplinary approaches. The aim of the review: A systematic review of the literature from January 2000 to June 2021 was performed, including both clinical trials and observational studies on histological adult primary spinal cord astrocytomas (SCA), with a minimum follow-up of 6 months and reporting the overall survival, progression-free survival or clinical neurological outcome after any therapeutic approach (surgery, RT or CHT). What are the main findings? A total of 1197 citations were identified by the Medline search and additional records; based on our inclusion criteria, 18 studies were included with a total of 285 adult patients. We documented the lack of any clinical trial. What are the conclusions? The available literature data are limited to series/retrospective studies, including heterogeneous patients, i.e., astrocytoma as well as ependymoma or pediatric/adult age, with scanty data on the outcomes of interest. No clinical trials have been run. Due to the rarity of this disease, multicentric clinical trials with molecular investigations are mandatory to better manage such a rare disease.

The impact of body mass index and height on risk for primary tumours of the spinal cord, spinal meninges, spinal and peripheral nerves in 1.7 million norwegian women and men: a prospective cohort study

Background Primary tumours of the spinal cord, spinal meninges, spinal and peripheral nerves comprise a heterogenous group of pathology, dominantly represented by meningioma, nerve sheath tumours (NST) and glioma. Body height and body mass index (BMI) are risk factors for certain brain tumour subgroups, but no other study has specifically assessed height and BMI in relation to primary tumours of the spine and peripheral nerves in women and men. Methods In this prospective population-based cohort study height and weight were measured in 1.7 million adult Norwegian women and men at baseline. Incident cases of primary tumours arising from the spinal cord, spinal meninges, spinal and peripheral nerves during follow-up were identified by linkage to the National Cancer Registry. Tumour risk was assessed by Cox regression analyses in relation to height and BMI. Results During 49 million person-years of follow-up, 857 primary tumours of the spinal cord, spinal meninges, spinal and peripheral nerves were identified. Overweight and obesity were not associated with risk for all tumours or any tumour subgroup. Height was positively associated with risk for all tumours (HR per 10 cm increase: 1.30, 95% CI 1.16–1.46). The association between height and tumour risk varied between tumour subgroups: while height was not significantly associated with NST, height increased the risk for meningioma (HR 1.42, 95% CI 1.13–1.78) and glioma (HR 1.56, 95% CI 1.06–2.28). The strongest association between height and tumour risk was found for the glioma subgroup of ependymoma in women (HR 3.38, 95% CI 1.64–6.94). Conclusion This study could not identify overweight and obesity as risk factors for primary tumours of the spinal cord, spinal meninges, spinal and peripheral nerves in women or men. Increasing body height was associated with increased tumour risk overall, but not universal for all tumour subgroups. Importance of the study Primary tumours of the spinal cord, spinal meninges, spinal and peripheral nerves have received little focus in epidemiologic studies, although the incidence and histo-pathological tumour subgroups differ significantly from primary brain tumours. Risk factors for these tumours have hardly been assessed in previous studies. Height, overweight and obesity are known risk factors for several cancers, including certain brain tumour subgroups, such as meningioma. This is the first study to report the association between height, overweight and obesity and primary tumours of the spinal cord, spinal meninges, spinal and peripheral nerves. This includes tumour subgroups of meningioma, nerve sheath tumour, glioma and the most common spinal glioma subgroup of ependymoma. While overweight and obesity were not associated with either of the tumour subgroups, an association between increasing body height and risk for spinal meningioma and glioma, including ependymoma, was found. Nerve sheath tumour risk was not associated with increasing body height.

Spinal intramedullary ependymoma presenting with atypical facial pain: A rare occurrence

Spinal cord ependymomas are the most common neuroepithelial tumors in adults accounting for two-third of all spinal gliomas. Although most patients with spinal cord tumors present with typical symptoms, the presence of a nonspecific clinical presentation with low clinical suspicion results in delayed diagnosis. We report a case of spinal intramedullary ependymoma in a 39-year-old man who presented with atypical pain over the lower half of the right side of the face for 3 months. Magnetic resonance imaging revealed a high cervical intramedullary contrast-enhancing solid mass lesion. The lesion was excised via cervical laminectomy. Histopathological examination confirmed the presence of an ependymoma. Complete resolution of facial pain was achieved postsurgery. At 2 years of follow-up, there was no evidence of clinical or radiological recurrence. Atypical facial pain can be the presenting feature of spinal intramedullary ependymoma. Complete relief of facial symptoms can be achieved by microsurgical excision.

Magnetic Resonance Imaging Characteristics of Molecular Subgroups in Pediatric H3\xa0K27M Mutant Diffuse Midline Glioma

PurposeRecent research identified histone H3 K27M mutations to be associated with a dismal prognosis in pediatric diffuse midline glioma (pDMG); however, data on detailed MRI characteristics with respect to H3 K27 mutation status and molecular subgroups (H3.1 and H3.3 K27M mutations) are limited.MethodsStandardized magnetic resonance imaging (MRI) parameters and epidemiologic data of 68 pDMG patients (age <18 years) were retrospectively reviewed and compared in a) H3 K27M mutant versus H3 K27 wildtype (WT) tumors and b) H3.1 versus H3.3 K27M mutant tumors.ResultsIntracranial gliomas (n = 58) showed heterogeneous phenotypes with isointense to hyperintense signal in T2-weighted images and frequent contrast enhancement. Hemorrhage and necrosis may be present. Comparing H3 K27M mutant to WT tumors, there were significant differences in the following parameters: i) tumor localization (p = 0.001), ii) T2 signal intensity (p = 0.021), and iii) T1 signal homogeneity (p = 0.02). No significant imaging differences were found in any parameter between H3.1 and H3.3 K27M mutant tumors; however, H3.1 mutant tumors occurred at a younger age (p = 0.004). Considering spinal gliomas (n = 10) there were no significant imaging differences between the analyzed molecular groups.ConclusionWith this study, we are the first to provide detailed MR imaging data on H3 K27M mutant pDMG with respect to molecular subgroup status in a large patient cohort. Our findings may support diagnosis and future targeted therapeutic trials of pDMG within the framework of the radiogenomics concept.

Paediatric spinal cord low-grade gliomas-evaluation and management of post-surgical residual disease.

To assess the evaluation and management of post-surgical residual disease for low-grade intramedullary spinal cord tumours (IMSCT) in childhood. A single-centre retrospective review of low-grade IMSCTs treated between 2000 and 2019. All surgeries were performed with intent of safe maximal resection guided by intra-operative neurophysiological monitoring (IONM). Pre- and post-operative MRIs were reviewed to assess the extent of resection (EOR), recorded as follows: gross total resection (GTR), near total resection (NTR), sub-total resection (STR) and partial resection (PR). Outcome measures were time to recurrence, need for and modality of additional therapy and ambulatory status at last follow-up. Thirty patients underwent surgery for IMSCT (median age 6.9years). EOR was GTR = 8, NTR = 4, STR = 9, PR = 9. All patients were alive at last follow-up (median follow-up 73months [IQR 93months]). Eighteen patients (60%) remained radiologically stable. Twelve patients (40%) developed recurrence during surveillance. Progression free survival was significantly better in cases with GTR + NTR in comparison to either STR or PR (p = 0.039). 10/30 (33%) patients were treated with additional therapy. At last follow-up, 26/30 patients were independently mobile. Survival rates for low-grade IMSCT are excellent. Radical micro-surgical resection, guided by IONM provides effective means of balancing the objectives of maximal safe resection, functional outcome and tumour control. Whilst evidence of 'residual disease' was identified in over 2/3 of immediate post-operative MRI scans, additional treatment was required in only 1/3 of cases. Critical appraisal of post-operative imaging findings is required to better define 'residual disease'. Small volume residual disease (< 5%) does not compromise progression-free survival.

Erratum. A multicenter analysis of the prognostic value of histone H3 K27M mutation in adult high-grade spinal glioma.

Erratum. A multicenter analysis of the prognostic value of histone H3 K27M mutation in adult high-grade spinal glioma.

A multicenter analysis of the prognostic value of histone H3 K27M mutation in adult high-grade spinal glioma.

High-grade spinal glioma (HGSG) is a rare but aggressive tumor that occurs in both adults and children. Histone H3 K27M mutation correlates with poor prognosis in children with diffuse midline glioma. However, the role of H3 K27M mutation in the prognosis of adults with HGSG remains unclear owing to the rarity of this mutation, conflicting reports, and the absence of multicenter studies on this topic. The authors studied a cohort of 30 adult patients with diffuse HGSG who underwent histological confirmation of diagnosis, surgical intervention, and treatment between January 2000 and July 2020 at six tertiary academic centers. The primary outcome was the effect of H3 K27M mutation status on progression-free survival (PFS) and overall survival (OS). Thirty patients (18 males and 12 females) with a median (range) age of 50.5 (19-76) years were included in the analysis. Eighteen patients had H3 K27M mutation-positive tumors, and 12 had H3 K27M mutation-negative tumors. The median (interquartile range) PFS was 3 (10) months, and the median (interquartile range) OS was 9 (23) months. The factors associated with increased survival were treatment with concurrent chemotherapy/radiation (p = 0.006 for PFS, and p ≤ 0.001 for OS) and American Spinal Injury Association grade C or better at presentation (p = 0.043 for PFS, and p < 0.001 for OS). There were no significant differences in outcomes based on tumor location, extent of resection, sex, or H3 K27M mutation status. Analysis restricted to HGSG containing necrosis and/or microvascular proliferation (WHO grade IV histological features) revealed increased OS for patients with H3 K27M mutation-positive tumors (p = 0.017). Although H3 K27M mutant-positive HGSG was associated with poor outcomes in adult patients, the outcomes of patients with H3 K27M mutant-positive HGSG were somewhat more favorable compared with those of their H3 K27M mutant-negative HGSG counterparts. Further preclinical animal studies and larger clinical studies are needed to further understand the age-dependent effects of H3 K27M mutation.

Driver Genetic Mutations in Spinal Cord Gliomas Direct the Degree of Functional Impairment in Tumor-Associated Spinal Cord Injury

Genetic analysis in glioma has been developed recently. Spinal cord glioma is less common than intracranial glioma. Thus, the clinical significance of genetic mutations in spinal cord gliomas remains unclear. Furthermore, because the spinal cord is an important communication channel between the brain and the rest of the body, increased attention should be paid to its functional prognosis. In this study, we investigated the functional prognosis and driver genetic mutations in eight patients with spinal cord gliomas (World Health Organization grade I, three cases; grade II, two cases; grade III/IV, three cases). IDH mutations were detected in all grade II cases and H3F3A mutations were detected in all grade III/IV cases. The functional status of grade I and II gliomas remained unchanged or improved 1 year after surgery, whereas grade III/IV gliomas remained unchanged or deteriorated. Spinal glioma progenitor cells with H3F3A mutations were associated with accelerated tumor-associated spinal cord injury, which led to functional impairment. Conversely, the presence of IDH mutations, which are rarely reported in spinal gliomas, indicated a relatively favorable functional prognosis.