Giant Cell Astrocytoma Research Articles

SURG-40. PEDIATRIC LOWER GRADE GLIOMA SURGERY IN THE ERA OF GENOMIC MEDICINE

Abstract INTRODUCTION In the 2021 WHO Brain Tumor Classification, pediatric-type gliomas are distinctly categorized from their adult counterparts. The continual evolution of cancer genomics has significantly broadened the spectrum of available treatment options. Here we would like to consider surgery for pediatric low-grade gliomas. METHODS We retrospectively analyzed 41 cases of low-grade gliomas or glioneuronal tumors in pediatric patients who underwent surgery at our institute from 2002 to 2023. We discussed surgical strategies based on molecular classification. RESULTS Among the cases, there were 34 gliomas and 7 glioneuronal tumors. According to the new WHO classification, they corresponded to 1) Adult-type diffuse gliomas, 2) Pediatric-type diffuse low-grade gliomas, 3) Circumscribed astrocytic tumors, or 4) Glioneuronal and neuronal tumors. Cases without molecular diagnosis were also considered in light of the new WHO classification. Among molecularly diagnosed astrocytomas involving the cerebral hemisphere, brain stem, spinal cord, there were no cases of 1), and 2) 3) were the main cases. It is important in surgical selection to note that these cases generally have a more favorable prognosis compared to the adult type and have usefulness in diagnosing MAPK pathway abnormalities leading to the selection of molecularly targeted drugs. 3) includes pilocytic astrocytoma, subependymal giant cell astrocytoma, and pleomorphic xanthoastrocytoma. Among these, in the treatment of pilocytic astrocytoma of the visual tract and hypothalamus, biopsy is essential for molecular diagnosis and therapeutic agent selection. 4) is mainly an epilepsy-related tumor. While their removal contributes to genetic diagnosis and epileptic seizure control, total removal may not always be deemed necessary. CONCLUSION Based on the new WHO classification, a reevaluation of treatment strategies for pediatric brain tumors is necessary.

Central nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar.

To review the clinical and radiological correlation of the central nervous system manifestations of tuberous sclerosis complex (TSC). All patients under the age of 18 years with TSC seen at the Department of Pediatrics, Sidra Medicine, Doha, Qatar, between January 2003 and February 2021 were included in this retrospective study. Severity of epilepsy was determined using the early childhood epilepsy severity score (E-CHESS) tool. The study sample included 38 patients (50% male), 8 (21%) of whom were native to Qatar. The median age at diagnosis was 4 (range: 0-72) months. A family history of TSC was present in 10 (26%) cases, while 33 (86%) patients had a TSC2 gene mutation. Common presentations included seizures (79%), rhabdomyoma (26%), and developmental delay (13%). On MRI scans, cortical tubers were seen in all patients, subependymal nodules in 37 (97%), and subependymal giant cell astrocytoma was diagnosed in 8 (21%) cases. A total of 30 children developed epilepsy, 9 of whom had favorable and 21 had unfavorable E-CHESS scores, and 6 required pharmaceutical management. A total of 13 children were diagnosed with autistic spectrum disorder and 12 with attention deficit hyperactivity disorder. Multidisciplinary management and further research is needed to optimize the care and quality of life of TSC affected individuals and their families.

Everolimus on cystic kidney disease burden reduction in pediatric tuberous sclerosis complex patients: a case series

BackgroundTuberous Sclerosis complex (TSC) is a multisystemic neurocutaneous genetic condition with high rates of morbidity and mortality from subependymal giant cell astrocytoma (SEGA), renal angiomyolipoma, and renal cyst complications. Everolimus is an inhibitor for mTORC1 and is currently used to treat TSC for its main role in rapidly reducing SEGA volume and seizure burden, although mainly studied in the adult population. It has also been shown to stabilize estimated glomerular filtration rate and reduce renal angiomyolipoma size in the adult population.Case presentationThis case report illustrates three pediatric patients placed on everolimus for SEGA and seizure control with incidental findings of the disappearance of or decreased burden of cystic kidney disease after everolimus therapy. In one patient, the cyst burden remained stable even after the cessation of everolimus while the SEGA resumed growth.ConclusionsThis report demonstrates the utility of everolimus in not only renal angiomyolipomas but also cystic kidney disease particularly in pediatric patients with a promising role in preserving renal function and preventing long term sequelae such as hematuria and hemorrhage from larger renal cysts especially if used early on in disease course.

TTF-1 immunohistochemistry in primary CNS tumors: A systematic review.

Thyroid transcription factor-1 (TTF-1) is a nuclear protein primarily recognized for its role in the development and differentiation of thyroid, lung, and certain diencephalic tissues. Although well-established as an immunohistochemical marker in thyroid and lung cancers, recent studies have explored its expression and diagnostic value in primary central nervous system (CNS) tumors. This systematic review aims to consolidate current knowledge on TTF-1 immunohistochemistry in primary CNS tumors, assessing its prevalence, diagnostic utility, and clinical implications. The review encompasses various CNS tumor types, including subependymal giant cell astrocytoma, chordoid glioma, pituicytoma, ependymomas, astrocytomas, glioblastomas, medulloblastomas, and choroid plexus tumors, highlighting the potential role of TTF-1 in differentiating these neoplasms from other CNS and metastatic tumors. By synthesizing findings from multiple studies, this review underscores the diagnostic value of TTF-1 in the neuropathological evaluation of CNS tumors and suggests directions for future research to refine its clinical application.

Subependymal giant cell astrocytoma in the absence of tuberous sclerosis: a case report and literature review

Introduction and Importance: Subependymal giant cell astrocytoma (SEGA) is a benign intraventricular tumor classically arising near the Foramen of Monro. SEGAs almost always present as a component of tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by lesions in multiple organs. Case Presentation: A 16-year-old male with no significant past medical history presented with headache and dizziness. Imaging revealed intraventricular mass within the left lateral ventricle; the post-contrast image showed a contrast-enhanced lesion suggestive of SEGA. Following resection, histopathological analysis identified the lesion as a SEGA. However, on further workup, the patient was found not to meet the clinical criteria of TSC, which exemplifies a rare case of SEGA in the absence of a TSC diagnosis. Clinical Discussion: Tuberous sclerosis Complex (TSC) is a neurocutaneous disorder with a classical triad of seizures, mental retardation, and hamartomas in multiple organs and tissues. SEGA without TSC does not have multiorgan problems and hence doesn’t need ancillary testing but despite having a good outlook still needs follow-up for interval growth or recurrence. However, overall prognosis of isolated SEGA is better than SEGA associated with TSC. Conclusion: SEGA is commonly found to be associated with TSC. Although it is challenging to diagnose isolated SEGA, hence it is essential for physicians to be aware of the possibility of SEGA in the absence of other characteristics of TSC, which has many implications for a patient’s clinical course. This case report adds to current knowledge regarding isolated SEGA.

Subependymal Giant Cell Astrocytoma: The Molecular Landscape and Treatment Advances.

Subependymal giant cell astrocytoma (SEGA) is most often found in patients with TSC (Tuberous Sclerosis Complex). Although it has been classified as a benign tumor, it may create a serious medical problem leading to grave consequences, including young patient demise. Surgery and chemotherapy belong to the gold standard of treatment. A broader pharmacological approach involves the ever-growing number of rapalogs and ATP-competitive inhibitors, as well as compounds targeting other kinases, such as dual PI3K/mTOR inhibitors and CK2 kinase inhibitors. Novel approaches may utilize noncoding RNA-based therapeutics and are extensively investigated to this end. The purpose of our review was to characterize SEGA and discuss the latest trends in the diagnosis and therapy of this disease.

Responsive neurostimulation of the frontal lobe for the detection and treatment of seizures in intractable epilepsy due to tuberous sclerosis complex: illustrative case.

Responsive neurostimulation (RNS) is often considered to be a palliative therapy for drug-resistant epilepsy (DRE) and is generally not considered to be a treatment for patients with tuberous sclerosis complex (TSC). Here, the authors present the case of a 24-year-old male with TSC who obtained seizure freedom following RNS device implantation. Prior to RNS device implantation, the patient underwent tuberectomies, subependymal giant cell astrocytoma resection, vagus nerve stimulator placement, and left frontal lobe resection but continued to have frequent seizures. An RNS device was implanted, which initially led to a decrease in seizures, but he continued to have 12 seizures per month. He then underwent lead revision for stimulation via a different electrode. After that lead change, he had no seizures for almost 3 years. In the following 3 years, he had two episodes of breakthrough seizures, both of which occurred with medication weans. Although the patient still requires antiseizure medication, he has had years of seizure freedom with RNS therapy. This study exhibits the potential effectiveness of RNS therapy for patients with TSC and DRE. RNS should be considered for patients with TSC when other therapies have not sufficiently treated their epilepsy. https://thejns.org/doi/10.3171/CASE23411.

Revealing subependymal giant cell astrocytoma with multimodal positron emission tomography: illustrative cases.

There is limited literature on the use of positron emission tomography (PET) for benign tumors originating in the brain ventricles, and the use of multiple tracers for subependymal giant cell astrocytoma (SEGA) has not been reported. The authors compared the PET findings in two SEGA cases with past reports and literature, exploring the distinctive characteristics of SEGA on PET. In a 21-year-old female with SEGA, the authors utilized 18F-fluorodeoxyglucose (18F-FDG), 11C-methionine (11C-MET), 18F-fluorothymidine (18F-FLT), 18F-fluoromisonidazole, and 18F-THK5351 tracers. Additionally, in a 6-year-old girl, the authors performed 11C-MET PET. The results indicated the accumulation of all tracers except 18F-FDG, with particularly intense accumulation noted with 18F-FLT. In particular, 18F-FLT demonstrated accumulation comparable to that observed in malignant tumors. This study suggests that multiple PET tracers can provide valuable insights into the characterization of SEGA, with 18F-FLT showing particular promise as a distinctive marker of blood-brain barrier disruption. Further research in larger cohorts may enhance our understanding of metabolic patterns in SEGA and aid in its diagnosis and treatment. https://thejns.org/doi/10.3171/CASE24111.

Radiotherapy for subependymal giant cell astrocytoma: time to challenge a historical ban? A case report and review of the literature

BackgroundSubependymal giant cell astrocytoma is a benign brain tumor that occurs in patients with tuberous sclerosis complex. Surgical removal is the traditional treatment, and expert opinion is strongly against the use of radiotherapy. Recently, success has been reported with the mTor inhibitor everolimus in reducing tumor volume, but regrowth has been observed after dose reduction or cessation.Case reportWe present the case of a 40-year-old Asian female patient treated successfully for growing bilateral subependymal giant cell astrocytoma with fractionated stereotactic radiotherapy before everolimus became available. After a follow-up of 8 years, everolimus was administered for renal angiomyolipoma and the patient was followed up until 13 years after radiotherapy. Successive magnetic resonance imaging demonstrated an 80% volume reduction after radiotherapy that increased to 90% with everolimus. A review of the literature was done leveraging Medline via PubMed, and we assembled a database of 1298 article references and 780 full-text articles in search of evidence for contraindicating radiotherapy in subependymal giant cell astrocytoma. Varying results of single-fraction radiosurgery were described in a total of 13 cases. Only in two published cases was the radiation dose of fractionated radiotherapy mentioned. One single publication mentions an induced secondary brain tumor 8 years after whole-brain radiotherapy.ConclusionThere is no evidence of contraindication and exclusion of fractionated radiotherapy in treating subependymal giant cell astrocytoma. Our experience demonstrates that subependymal giant cell astrocytoma, as other benign intracranial tumors, responds slowly but progressively to radiotherapy and suggests that fractionated stereotactic radiotherapy holds promise to consolidate responses obtained with mTor inhibitors avoiding regrowth after cessation.

Subependymal giant cell astrocytoma, hereditary versus solitary: clinical, morphological, and immunophenotypic characterization

Subependymal giant cell astrocytoma, hereditary versus solitary: clinical, morphological, and immunophenotypic characterization

IMG-33. EXPLORING RARE CASES OF SUBEPENDYMAL GIANT CELL ASTROCYTOMA (SEGA) IN PATIENTS WITH AND WITHOUT TUBEROUS SCLEROSIS COMPLEX (TSC): EXPERIENCE FROM INDONESIA

Abstract INTRODUCTION Subependymal giant cell astrocytoma (SEGA) represents a rare type of brain tumor that predominantly manifests in individuals with tuberous sclerosis complex (TSC), a genetic disorder characterized by the growth of benign tumors in various organs. In radiology, SEGA exhibits distinct imaging characteristics in various modalities such as magnetic resonance imaging (MRI) and computed tomography (CT). Radiological features include well-defined intraventricular masses with variable enhancement patterns and associated hydrocephalus. Moreover, SEGA typically demonstrates signal characteristics consistent with glial tumors on MRI, aiding in differentiation from other intraventricular lesions. In TSC patients, SEGA often arises in association with other typical manifestations such as cortical tubers and subependymal nodules, facilitating diagnosis through multimodal imaging approaches. In contrast, SEGA occurring in non-TSC individuals presents challenges in diagnosis due to its rarity and lack of associated clinical features. CASE PRESENTATION Two patients with tuberous sclerosis complex exhibit intraventricular masses suggestive of SEGA, confirmed by histopathological results. Another patient, one patient with an intraventricular mass was suspected to have choroid plexus papilloma based on MRI findings; however, additional features correlated with SEGA. Histopathological examination subsequently confirmed the diagnosis of SEGA. CONCLUSION Radiological evaluation plays a crucial role in the assessment of SEGA, guiding treatment decisions and prognostic considerations. This abstract provides an overview of the radiological findings of SEGA in the context of TSC and non-TSC populations, highlighting the importance of imaging in managing this uncommon brain tumor.

Incidence and Characteristics of Cerebellar Atrophy/Volume Loss in Children with Confirmed Diagnosis of Tuberous Sclerosis Complex.

Objectives: The goal of our study was to determine the incidence of cerebellar atrophy, assess the imaging findings in the posterior fossa and determine the incidence of hippocampal sclerosis in a cohort of pediatric patients with confirmed tuberous sclerosis complex (TSC). Material and methods: MRI studies of 98 TSC pediatric patients (mean age 7.67 years) were evaluated for cerebellar atrophy, cerebral/cerebellar tubers, white matter lesions, subependymal nodules, subependymal giant cell astrocytomas, ventriculomegaly, and hippocampal sclerosis. Clinical charts were revisited for clinical symptoms suggesting cerebellar involvement, for seizures and treatment for seizures, behavioral disorders and autism. Results: Cerebral tubers were present in 97/98 cases. In total, 97/98 had subependymal nodules, 15/98 had SEGA, 8/98 had ventriculomegaly and 4/98 had hippocampal sclerosis. Cerebellar tubers were found in 8/98 patients (8.2%), whereas cerebellar atrophy was described in 38/98 cases (38.8%). In 37/38 patients, cerebellar volume loss was mild and diffuse, and only one case presented with left hemi-atrophy. Briefly, 32/38 presented with seizures and were treated with anti-seizure drugs. In total, 8/38 (21%) presented with behavioral disorders, 10/38 had autism and 2/38 presented with seizures and behavioral disorders and autism. Conclusions: Several studies have demonstrated cerebellar involvement in patients with TSC. Cerebellar tubers differ in shape compared with cerebral tubers and are associated with cerebellar volume loss. Cerebellar atrophy may be focal and diffuse and one of the primary cerebellar manifestations of TSC, especially if a TSC2 mutation is present. Cerebellar degeneration may, however, also be secondary/acquired due to cellular damage resulting from seizure activity, the effects of anti-seizure drugs and anoxic-ischemic injury from severe seizure activity/status epilepticus. Further, prospective studies are required to identify and establish the pathogenic mechanism of cerebellar atrophy in patients with TSC.

Periventricular and Intraventricular Tumors in a Low-Income Country: Hard Learning Curve and Outcome of a Young Neurosurgeon from Burkina Faso

Background: Periventricular and Intraventricular processes are life-threatening conditions because of their propensity to obstruct Cerebrospinal fluid pathways and to compress highly functional and vital structures. There are deep-seated lesions requiring rigorous microsurgical technic for their resection. Methods: We retrospectively analyzed the profile and outcome of Periventricular and intraventricular processes operated by the same author since his return in his country in 2015, after graduated abroad in WFNS Rabat training center program 2023. Result: We defined 15 patients operated over 8 years. There were 4 processes in lateral ventricle (26.6%), 1 in third ventricle (6.6%), 2 thalamus processes (13.3%), 4 in fourth ventricle (26.6%) and finally 4 in cerebellar hemisphere and violating the fourth ventricle (26.6%). Various surgical approaches were used, such as contralateral interhemispheric transcallosal, classical interhemispheric transcallosal, Subfrontal transbasal translamina terminalis, Frontal Transcortical, Temporal trans T2, ventriculoperitoneal shunting, endoscopy, cerebellar transcotical approach and Telovelar approach. Surgical procedure duration was more than 10 hours in 12 cases (80%) and one third of the patients have been operated in 2018. When neurosurgical operative microscope was not available, ophthalmologic microscope or binocular with headlight were used to achieve the resection. Pathological examination revealed High-grade glioma, subependymal giant cell astrocytoma (SEGA), central neurocytoma, Subependymoma, Hemangioblastoma, pilocytique astrocytoma, Medulloblastoma, gemiocytic astrocytoma, atypical papilloma of choroid plexus, craniopharygioma and cyst of septum pellucidum. We reported good postoperative outcome in 10 cases (66.6%), moderate postoperative deficit in 1 case and 4 cases of postoperative death (26.6%) among which 3 cases of postoperative meningitis. Conclusion: Periventricular and intraventricular processes can be safely approach in low-income country with acceptable result. However young African Neurosurgeon should be trained to be comfortable with multiple surgical approaches and also with binocular as well as with microscope. WFNS training program is a strong basement for the take-off of young African neurosurgeon. Backing home should be the rule after training, to develop neurosurgery.

Targeting the EGFR pathway: An alternative strategy for the treatment of tuberous sclerosis complex?

Tuberous sclerosis complex (TSC) is caused by variants in TSC1/TSC2, leading to constitutive activation of the mammalian target of rapamycin (mTOR) complex 1. Therapy with everolimus has been approved for TSC, but variations in success are frequent. Recently, caudal late interneuron progenitor (CLIP) cells were identified as a common origin of the TSC brain pathologies such as subependymal giant cell astrocytomas (SEGA) and cortical tubers (CT). Further, targeting the epidermal growth factor receptor (EGFR) with afatinib, which is expressed in CLIP cells, reduces cell growth in cerebral TSC organoids. However, investigation of clinical patient-derived data is lacking. Observation of EGFR expression in SEGA, CT and focal cortical dysplasia (FCD) 2B human brain specimen and investigation of whether its inhibition could be a potential therapeutic intervention for these patients. Brain specimens of 23 SEGAs, 6 CTs, 20 FCD2Bs and 17 controls were analysed via immunohistochemistry to characterise EGFR expression, cell proliferation (via Mib1) and mTOR signalling. In a cell-based assay using primary patient-derived cells (CT n= 1, FCD2B n= 1 and SEGA n= 4), the effects of afatinib and everolimus on cell proliferation and cell viability were observed. EGFR overexpression was observed in histological sections of SEGA, CT and FCD2B patients. Both everolimus and afatinib decreased the proliferation and viability in primary SEGA, tuber and FCD2B cells. Our study demonstrates that EGFR suppression might be an effective alternative treatment option for SEGAs and tubers, as well as other mTOR-associated malformations of cortical development, including FCD2B.

Поліморфізм клінічних проявів орфанних захворювань у дітей із мутаціями генів ARID1A та ARID1B

The Department of Psychoneurology for Children with Perinatal Pathology and Orphan Diseases at the SI “Institute of Pediatrics, Obstetrics and Gynecology named after academician O.M. Lukyanova of the NAMS of Ukraine” has a multidisciplinary team which provides care to children with orphan diseases from all over Ukraine. Thanks to modern methods of clinical, instrumental and genetic diagnostics, it is possible to establish a definitive diagnosis. Aim - to provide a literature review and a clinical case of a child with pathogenic variants of the ARID family genes, which, in particular, lead to the development of Coffin-Circe syndrome (CCS), autism spectrum disorder and intellectual disability, as well as the development of nervous system tumors in children. The article presents a clinical case of a child with a rare disease - CCS, which is part of the ARID gene mutation spectrum. The general clinical and neurological examination, electroencephalographic sleep monitoring, magnetic resonance imaging, whole-exome sequencing, and pathological examination were performed. The difficulty of diagnosis was that a child with skin manifestations of phacomatosis was diagnosed with subependymal giant cell astrocytoma (SGСA) by magnetic resonance imaging, but there were no mutations characteristic of tuberous sclerosis (TSC1, TSC2). Pathologically, the patient was confirmed to have grade I SGСA according to the World Health Organization classification. Two pathogenic mutations of the ARID1A gene in the compound heterozygous state were detected by whole-exome sequencing. After combining the combined clinical and instrumental signs, the diagnosis of CCS with grade I SGСA was established. Conclusions. The disorders caused by ARID1A and ARID1B mutations belong to a spectrum that includes syndromic and non-syndromic cases of intellectual disability, autism spectrum disorder, and CCS with or without a variety of somatic and neurological symptoms, and are grouped under the general term “ARID-related disorders”. Only a thorough medical history, clinical examination, and modern methods of instrumental and genetic diagnostics can make a diagnosis. The research was carried out in accordance with the principles of the Declaration of Helsinki. Informed consent of the women was obtained for the research. No conflict of interests was declared by the authors.

Subependymal giant cell astrocytoma as presentation of tuberous sclerosis: a case report

BackgroundA case of tuberous sclerosis patient on long-term follow-up is reported here.Case presentationA 22-year-old female patient with epilepsy was diagnosed with tuberous sclerosis at the age of 12 years. At that time, a small subependymal giant cell astrocytoma has been detected along with the other signs of the disease. But the patient was not symptomatic of the intracranial lesion at that time. So, she was kept under follow-up with treatment for the epilepsy. Within 10 years, the lesion gradually enlarged and caused symptoms and the tumour had to be resected at the age of 22 years of age.ConclusionsSubependymal giant cell astrocytoma is very slow-growing low-grade tumour. If small and asymptomatic at the time of the initial diagnosis, resection is not advised. The patient should be kept under close follow-up.

Utility of combining OLIG2 and SOX10 IHC expression in CNS tumours: promising biomarkers for subtyping paediatric- and adult-type gliomas.

The SOX10 transcription factor is important for the maturation of oligodendrocytes involved in central nervous system (CNS) myelination. Currently, very little information exists about its expression and potential use in CNS tumour diagnoses. The aim of our study was to characterize the expression of SOX10 in a large cohort of CNS tumours and to evaluate its potential use as a biomarker. We performed immunohistochemistry (IHC) for SOX10 and OLIG2 in a series of 683 cases of adult- and paediatric-type CNS tumours from different subtypes. The nuclear immunostaining results for SOX10 and OLIG2 were scored as positive (≥10% positive tumour cells) or negative. OLIG2 and SOX10 were positive in diffuse midline gliomas (DMG), H3-mutant, and EZHIP-overexpressed. However, in all DMG, EGFR-mutant, SOX10 was constantly negative. In diffuse paediatric-type high-grade gliomas (HGG), all RTK1 cases were positive for both OLIG2 and SOX10. RTK2 cases were all negative for both OLIG2 and SOX10. MYCN cases variably expressed OLIG2 and were all immunonegative for SOX10. In glioblastoma, IDH-wildtype, OLIG2 was mostly positive, but SOX10 was variably expressed, depending on the epigenetic subtype. All circumscribed astrocytic gliomas were positive for both OLIG2 and SOX10 except pleomorphic xanthoastrocytomas, astroblastomas, MN1-altered, and subependymal giant cell astrocytomas. SOX10 was negative in ependymomas, meningiomas, pinealoblastomas, choroid plexus tumours, intracranial Ewing sarcomas, and embryonal tumours except neuroblastoma, FOXR2-activated. To conclude, SOX10 can be incorporated into the IHC panel routinely used by neuropathologists in the diagnostic algorithm of embryonal tumours and for the subtyping of paediatric and adult-type HGG.

Diagnostic utility of genetic alterations in distinguishing IDH-wildtype glioblastoma from lower-grade gliomas: Insight from next-generation sequencing analysis of 479 cases.

The accurate diagnosis and classification of gliomas are essential for appropriate treatment planning and prognosis prediction. This study aimed to investigate the molecular diagnostics of IDH-wildtype diffuse astrocytic gliomas and identify potential genetic variants that could differentiate glioblastoma (GBM) from lower-grade gliomas when DNA methylation analysis is not feasible. In total, 479 H3-and IDH-wildtype diffuse astrocytic gliomas were included in this study. All the cases were diagnosed according to the 2021 World Health Organization (WHO) classification of central nervous system (CNS) tumors. Panel sequencing data were collected, and clinicopathological information was retrieved from medical records. Genetic alterations and histological findings were analyzed to determine their diagnostic utility and prognostic implications. Out of 479 cases, 439 (91.6%) were diagnosed with GBM, including 28 cases that were molecularly diagnosed as GBM. However, 40 (8.4%) cases could not be classified according to the 2021 WHO classification and were diagnosed as lower-grade diffuse astrocytic glioma, IDH-wildtype, not elsewhere classified (LGNEC). In addition to the three genetic alterations included in the diagnostic criteria of GBM, PTEN and EGFR mutations were found to be enriched in GBM. Patients harboring mTOR pathway mutations demonstrated a more favorable prognosis and often exhibited morphology resembling subependymal giant cell astrocytoma, along with a high tumor mutational burden. Among patients with mTOR pathway mutations, those lacking molecular diagnostic features of GBM exhibited outstanding survival outcomes, even in the presence of grade 4 histology. Integration of molecular features enhanced the diagnostic accuracy of IDH-wildtype gliomas. Some molecular alterations enriched in GBM offer valuable insights for molecular diagnosis and glioma classification. Furthermore, high-grade diffuse astrocytic gliomas featuring mTOR pathway mutations in the absence of molecular diagnostic features of GBM could represent more favorable tumor types distinct from GBM.

Subependymal giant cell astrocytoma (SEGA), unrelated to tuberous sclerosis, NTRK positive

Subependymal giant cell astrocytoma (SEGA), unrelated to tuberous sclerosis, NTRK positive

Congenital Tumors-Magnetic Resonance Imaging Findings with Focus on Rare Tumors.

Congenital tumors are rare and, owing to this rarity, there is limited information on many of them. A total of 839 fetal and postnatal MRI studies performed in the first 3 months of life were retrospectively reviewed. They were performed with the use of 1.5 T scanners. Seventy-six tumors were diagnosed based on fetal MRI between 20 and 37 gestational weeks, and 27 were found after birth, from 1 day of age to 3 months of life. Teratomas were the most common tumors in our dataset, mainly in the sacrococcygeal region (SCT), followed by cardiac rhabdomyomas and subependymal giant cell astrocytomas (SEGA) associated with TSC, and neuroblastomas. The group of less common tumors consisted of infantile fibrosarcomas, malignant rhabdoid tumors, mesoblastic nephromas and Wilms tumor, craniopharyngiomas, brain stem gliomas, desmoplastic infantile astrocytoma, choroid plexus carcinoma, glioblastoma, hemangiopericytoma, rhabdomyosarcoma, melanoma, mesenchymal hamartomas of the chest wall and the liver, and juvenile xanthogranuloma, with special consideration of blue rubber bleb nevus syndrome. MRI plays a significant role in further and better characterization of congenital tumors, leading to a correct diagnosis in many cases, which is crucial for pregnancy and neonatal management and psychological preparation of the parents. No diagnosis is impossible and can be absolutely excluded.