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Abstract Neuroepithelial tumors with fusion of PLAGL1 or amplification of PLAGL1/PLAGL2 have recently been described often with ependymoma-like or embryonal histology respectively. To further evaluate emerging entities with PLAG-family genetic alterations, the histologic, molecular, clinical, and imaging features are described for 8 clinical cases encountered at St. Jude (EWSR1-PLAGL1 fusion n = 6; PLAGL1 amplification n = 1; PLAGL2 amplification n = 1). A histologic feature observed on initial resection in a subset (4/6) of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement was the presence of concurrent ependymal and ganglionic differentiation. This ranged from prominent clusters of ganglion cells within ependymoma/subependymoma-like areas, to interspersed ganglion cells of low to moderate frequency among otherwise ependymal-like histology, or focal areas with a ganglion cell component. When present, the combination of ependymal-like and ganglionic features within a supratentorial neuroepithelial tumor may raise consideration for an EWSR1-PLAGL1 fusion, and prompt initiation of appropriate molecular testing such as RNA sequencing and methylation profiling. One of the EWSR1-PLAGL1 fusion cases showed subclonal INI1 loss in a region containing small clusters of rhabdoid/embryonal cells, and developed a prominent ganglion cell component on recurrence. As such, EWSR1-PLAGL1 neuroepithelial tumors are a tumor type in which acquired inactivation of SMARCB1 and development of AT/RT features may occur and lead to clinical progression. In contrast, the PLAGL2 and PLAGL1 amplified cases showed either embryonal histology or contained an embryonal component with a significant degree of desmin staining, which could also serve to raise consideration for a PLAG entity when present. Continued compilation of associated clinical data and histopathologic findings will be critical for understanding emerging entities with PLAG-family genetic alterations.

Neuroepithelial tumors with fusion of PLAGL1 or amplification of PLAGL1/PLAGL2 have recently been described often with ependymoma-like or embryonal histology respectively. To further evaluate emerging entities with PLAG-family genetic alterations, the histologic, molecular, clinical, and imaging features are described for 8 clinical cases encountered at St. Jude (EWSR1-PLAGL1 fusion n = 6; PLAGL1 amplification n = 1; PLAGL2 amplification n = 1). A histologic feature observed on initial resection in a subset (4/6) of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement was the presence of concurrent ependymal and ganglionic differentiation. This ranged from prominent clusters of ganglion cells within ependymoma/subependymoma-like areas, to interspersed ganglion cells of low to moderate frequency among otherwise ependymal-like histology, or focal areas with a ganglion cell component. When present, the combination of ependymal-like and ganglionic features within a supratentorial neuroepithelial tumor may raise consideration for an EWSR1-PLAGL1 fusion, and prompt initiation of appropriate molecular testing such as RNA sequencing and methylation profiling. One of the EWSR1-PLAGL1 fusion cases showed subclonal INI1 loss in a region containing small clusters of rhabdoid/embryonal cells, and developed a prominent ganglion cell component on recurrence. As such, EWSR1-PLAGL1 neuroepithelial tumors are a tumor type in which acquired inactivation of SMARCB1 and development of AT/RT features may occur and lead to clinical progression. In contrast, the PLAGL2 and PLAGL1 amplified cases showed either embryonal histology or contained an embryonal component with a significant degree of desmin staining, which could also serve to raise consideration for a PLAG entity when present. Continued compilation of associated clinical data and histopathologic findings will be critical for understanding emerging entities with PLAG-family genetic alterations. [ABSTRACT FROM AUTHOR]

Ewing Sarcoma Breakpoint Region 1 and POZ/BTB And AT Hook Containing Zinc Finger 1 (EWSR1::PATZ1) gene fusion central nervous system (CNS) tumors are increasingly recognized as a potential distinct entity, with only limited reported cases. The imaging characteristics of these tumors have not been well established. In this study, we provide a detailed radiological description of a case in a 24‑year‑old man and conduct a literature review to identify common imaging features. A total of seven cases, including our own, were evaluated. Histopathological diagnoses included two ependymomas, an infantile glioblastoma, an astroblastoma, a ganglioglioma, and two gliomas not otherwise specified. Common imaging patterns included avid contrast enhancement, intratumoral cysts, intraventricular location or extension leading to hydrocephalus, and sharp delineation. Additional frequently observed features included calcifications and hemorrhagic foci. In conclusion, although the histopathological appearance of EWSR1::PATZ1 gene fusion CNS tumors is diverse, there are consistent imaging features. Recognition of these features can be valuable in the diagnostic process, as radiologists can be the first to suggest the diagnosis.

New groups of high-grade neuroepithelial tumours (HGNET) have emerged from the reclassification of central nervous system (CNS) embryonal tumours that have recognised CNS HGNET with BCOR alteration (CNS HGNET-BCOR). We report a two-year, nine-month-old Omani boy who presented to the Royal Hospital, Muscat, Oman, in 2015 with subacute head tilting and neck pain. A well-defined cerebellar lesion was found and he was treated with standard chemoradiotherapy. After a relapse at the age of five years, molecular testing revealed a BCOR alteration. He was treated with further surgery and high-dose chemotherapy; unfortunately, he relapsed and died three years after he was diagnosed.

In the World Health Organization tumor classification (fifth edition), central nervous system (CNS) tumors with BCOR internal tandem duplications have been recognized as a new tumor type. Some recent studies have reported CNS tumors with EP300::BCOR fusions, predominantly in children and young adults, expanding the spectrum of BCOR-altered CNS tumors. This study reports a new case of high-grade neuroepithelial tumor (HGNET) with an EP300::BCOR fusion in the occipital lobe of a 32-year-old female. The tumor displayed anaplastic ependymoma-like morphologies characterized by a relatively well-circumscribed solid growth with perivascular pseudorosettes and branching capillaries. Immunohistochemically, OLIG2 was focally positive and BCOR was negative. RNA sequencing revealed an EP300::BCOR fusion. The Deutsches Krebsforschungszentrum DNA methylation classifier (v12.5) classified the tumor as CNS tumor with BCOR/BCORL1 fusion. The t-distributed stochastic neighbor embedding analysis plotted the tumor close to the HGNET with BCOR alteration reference samples. BCOR/BCORL1-altered tumors should be included in the differential diagnosis of supratentorial CNS tumors with ependymoma-like histological features, especially when they lack ZFTA fusion or express OLIG2 even in the absence of BCOR expression. Analysis of published CNS tumors with BCOR/BCORL1 fusions revealed partly overlapping but not identical phenotypes. Further studies of additional cases are required to establish their classification. [ABSTRACT FROM AUTHOR]

Abstract A novel DNA methylation class of tumor within the central nervous system, the "neuroepithelial tumor (NET), PATZ1 fusion-positive” has recently been identified in the literature, characterized by EWSR1- and MN1-PATZ1 fusions. The cellular origin of this tumor type remains unknown, wavering between glioneuronal or mesenchymal (as round cell sarcomas with EWSR1-PATZ1 of the soft tissue). Because of the low number of reported cases, this tumor type will not be added to the 2021 World Health Organization Classification of Tumors of the Central Nervous System (CNS). Herein, we report one case of a CNS tumor classified by DNA methylation analysis as NET-PATZ1 but harboring a novel LARGE1-AFF2 fusion which has until now never been described in soft tissue or the CNS. We compare its clinical, histopathological, immunophenotypical, and genetic features with those previously described in NET-PATZ1. Interestingly, the current case presented histopathological (astroblastoma-like features, glioneuronal phenotype), clinical (with a favorable course), genetic (1p loss), and epigenetic (DNA-methylation profiling) similarities to previously reported cases of NET-PATZ1. Our results added data suggesting that different histomolecular tumor subtypes seem to be included within the methylation class “NET, PATZ1 fusion-positive”, including non PATZ1 fusions, and that further cases are needed to better characterize them.

A novel DNA methylation class of tumor within the central nervous system, the "neuroepithelial tumor (NET), PATZ1 fusion-positive" has recently been identified in the literature, characterized by EWSR1- and MN1-PATZ1 fusions. The cellular origin of this tumor type remains unknown, wavering between glioneuronal or mesenchymal (as round cell sarcomas with EWSR1-PATZ1 of the soft tissue). Because of the low number of reported cases, this tumor type will not be added to the 2021 World Health Organization Classification of Tumors of the Central Nervous System (CNS). Herein, we report one case of a CNS tumor classified by DNA methylation analysis as NET-PATZ1 but harboring a novel LARGE1-AFF2 fusion which has until now never been described in soft tissue or the CNS. We compare its clinical, histopathological, immunophenotypical, and genetic features with those previously described in NET-PATZ1. Interestingly, the current case presented histopathological (astroblastoma-like features, glioneuronal phenotype), clinical (with a favorable course), genetic (1p loss), and epigenetic (DNA-methylation profiling) similarities to previously reported cases of NET-PATZ1. Our results added data suggesting that different histomolecular tumor subtypes seem to be included within the methylation class "NET, PATZ1 fusion-positive", including non PATZ1 fusions, and that further cases are needed to better characterize them. [ABSTRACT FROM AUTHOR]

Ependymomas encompass a heterogeneous group of central nervous system (CNS) neoplasms that occur along the entire neuroaxis. In recent years, extensive (epi-)genomic profiling efforts have identified several molecular groups of ependymoma that are characterized by distinct molecular alterations and/or patterns. Based on unsupervised visualization of a large cohort of genome-wide DNA methylation data, we identified a highly distinct group of pediatric-type tumors (n = 40) forming a cluster separate from all established CNS tumor types, of which a high proportion were histopathologically diagnosed as ependymoma. RNA sequencing revealed recurrent fusions involving the pleomorphic adenoma gene-like 1 (PLAGL1) gene in 19 of 20 of the samples analyzed, with the most common fusion being EWSR1:PLAGL1 (n = 13). Five tumors showed a PLAGL1:FOXO1 fusion and one a PLAGL1:EP300 fusion. High transcript levels of PLAGL1 were noted in these tumors, with concurrent overexpression of the imprinted genes H19 and IGF2, which are regulated by PLAGL1. Histopathological review of cases with sufficient material (n = 16) demonstrated a broad morphological spectrum of tumors with predominant ependymoma-like features. Immunohistochemically, tumors were GFAP positive and OLIG2- and SOX10 negative. In 3/16 of the cases, a dot-like positivity for EMA was detected. All tumors in our series were located in the supratentorial compartment. Median age of the patients at the time of diagnosis was 6.2 years. Median progression-free survival was 35 months (for 11 patients with data available). In summary, our findings suggest the existence of a novel group of supratentorial neuroepithelial tumors that are characterized by recurrent PLAGL1 fusions and enriched for pediatric patients. [ABSTRACT FROM AUTHOR]

Background: Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a rare neuropathological entity, recently introduced in neuro-oncology. These tumors, histologically similar to oligodendrogliomas, cause epilepsy, occurring in children and young adults. Only few cases of PLNTY have been described in literature and all reported cases invariably focused on the onset of these tumors in children and young adults. Case Description: We report the case of a 50-year-old woman suffering from epilepsy since the 1st year of her life. Computed tomography scan and magnetic resonance imaging of the brain documented the presence of a calcified mass involving left temporal lobe. The tumor was surgically excised and the histological examination showed a hypocellular and massively calcified neoplasm with morphological and immunohistochemical features consistent with the diagnosis of "PLNTY.". Conclusion: A review of the literature revealed that there are 31 cases of PLNTY reported in literature, most of which are children or young adults. The present case represents the second PLNTY diagnosed in a middle-aged adult to the best of our knowledge, suggesting that PLNTY should always be included in the differential diagnosis of low-grade brain tumors, also in adult patients. [ABSTRACT FROM AUTHOR]

Abstract The recently described malignant neuro-epithelial tumors with histone H3F3A point mutations at G34 (NET-H3-G34) occur most often in cerebral hemispheres of teenagers and young adults, and have a generally adverse prognosis. These tumors have been histologically classified as glioblastoma or primitive neuroectodermal tumor (PNET) in the past, and have not been defined as a separate entity in the revised WHO classification of tumors of the CNS 2016. Here, we report two cases of NET-H3-G34 with glial and dysplastic ganglion cell components affecting teenagers. Patients were treated with surgery and radiochemotherapy with temozolomide. One patient underwent partial resection and deceased 21 months after diagnosis, while the other patient is alive without evidence of disease 15 months after total resection. So far, a dysplastic ganglion cell component has not been described in NET-H-G34, and its presence raises a possible relation to (anaplastic) gangliogliomas. Genome-wide copy number analysis did not provide unequivocal evidence that these tumors represent anaplastic variants of gangliogliomas, as opposed to NET-H3-G34. Our observations expand the morphologic spectrum of NET-H3-G34. Further cases of NET-H3-G34 with dysplastic ganglion cells should be clinically followed to find differences or similarities in their biological behavior, as compared to NET-H3-G34 and anaplastic gangliogliomas.

Angiocentric glioma (AG) is a rare subtype of neuroepithelial tumor in children and young adults that commonly presents with seizures. To study the clinical characteristics, treatment and prognosis of patients with AG, the features of two cases of AG were described and 108 cases reported in the literature were assessed. The cases of the present study were two males aged 8 and 16 years, who mainly presented with seizures. MRI revealed superficial, non-enhanced lesions in the left temporal and right frontal lobe, respectively. The two patients underwent gross total resection (GTR) and remained seizure-free without neurological deficits after 3.5 and 2.5 years, respectively. Histopathological examination revealed that the tumors consisted of monomorphous cells that surrounded the blood vessels and neurons in the cerebral cortex, and formed concentric sleeves or pseudorosettes. Furthermore, immunostaining indicated that the diffuse infiltrative neoplastic cells were positive for glial fibrillary acidic protein and a dot-like pattern of epithelial membrane antigen was observed. AG mostly appeared similar to low-grade gliomas on MRI. GTR of the lesions was curative and radiation or chemotherapy were not required. AG typically has a favorable prognosis, with low mortality and incidence of disability. [ABSTRACT FROM AUTHOR]

The “neuroepithelial tumor”: Exchanging our trash can for an industrial size dumpster?

An updated and comprehensive review on dysembryoplastic neuroepithelial tumor (DNET) focusing on differential diagnosis, atypical presentation, seizure outcome, and risk of malignant transformation. A PubMed/MEDLINE-based literature search has been performed using "dysembryoplastic neuroepithelial tumor" as a keyword. Two treated cases characterized by an atypical presentation have been reviewed. Of 1162 articles, 200 relevant studies have been selected. DNET is a benign mixed neuronal-glial tumor causing drug-resistant epilepsy primarily in children and young adults. The typical radiological pattern is a magnetic resonance imaging (MRI) T1-hypointense, T2-, and fluid-attenuated inversion-recovery hyperintense multicystic lesion involving the cerebral cortex with no edema. Contrast enhancement may be present and a focal cortical dysplasia is commonly associated with it. MRI diffusion, perfusion, and spectroscopy have a paramount role in the differential diagnosis. The "specific glioneuronal elements" are pathognomonic. They are positive for S100 protein, synaptofisin, neuronal nuclei, oligodendrocyte transcription factor, neurite outgrowth inhibitor, and microtubule-associated protein 2, but negative for glial fibrillary acidic protein. As opposed to v-myb avian myeloblastosis viral oncogene homolog, isocitrate dehydrogenase-1/isocitrate dehydrogenase-2 mutation and codeletion 1p-19q, fibroblast growth factor receptor 1 and BRAF V600E mutations are present. The effectiveness of surgery on seizure outcome has been established. Rare malignant transformations have been reported, especially in extra-temporal and complex forms. Advanced MRI techniques are fundamental in the differential diagnosis for DNET versus other low-grade gliomas. Immuno-phenotype assessment and search for fibroblast growth factor receptor 1 and BRAF V600E mutations limit the risk of misdiagnoses. A gross total tumor removal is generally associated with a seizure-free outcome. Recurrences and malignant transformations may rarely follow, legitimizing MRI surveillance in cases of subtotal tumor resection. [ABSTRACT FROM AUTHOR]

Background Advances in molecular profiling have facilitated the emergence of newly defined entities of central nervous system (CNS) tumor, including CNS high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET- BCOR ). Relatively little is known about the clinical behavior of these newly characterized tumors. Case Description We describe a pediatric male patient with CNS HGNET- BCOR , who developed seeding of the tumor into the site of the surgical wound within months of surgery and who underwent resection of a residual posterior fossa tumor. Conclusions This case emphasizes 3 important points. First, CNS HGNET- BCOR can be aggressive tumors that necessitate close clinical and radiologic surveillance. Second, surveillance imaging in such cases should incorporate the surgical incision site into the field of view, and this should be closely scrutinized to ensure the timely detection of wound site seeding. Third, wound site seeding may still occur despite the use of meticulous surgical techniques. [ABSTRACT FROM AUTHOR]

Background and objective Distinguishing cancer subtypes is critical for selecting the appropriate treatment strategy. Bioinformatics approaches have gradually taken the place of clinical observations and pathological experiments. However, these approaches are typically only used in gene expression profiling. Previous studies have primarily focused on the gene level or specific diseases, and thus pathway-level factors have not been considered. Therefore, a computational method that integrates gene expression and pathway is necessary. Methods This study presented an approach to determine potential fragments of activated pathways around protein networks in different stages of disease. We used a scored equation that integrates genomic and proteomic information and determined the intensity of the pathway link change. A support vector machine (SVM) was used to train and test subtype-predicted models. Results The performance of the proposed method was evaluated by calculating prediction accuracy. The average prediction accuracy was 67.64% for three subtypes in tumors of neuroepithelial tissues. The results demonstrate that the proposed method applies fewer features than gene expression methods used to obtain similar results Conclusions This study suggests a method to implement a cancer subtype classifier based on an SVM from a pathway-level perspective. [ABSTRACT FROM AUTHOR]

We present the clinicopathological and molecular genetic characteristics of a neuroepithelial tumor (NET), EWSR1::PATZ1 fusion-positive with a literature review. This fusion has recently been discovered in rare central nervous system tumors and soft tissue sarcomas and was not included in the fifth edition of the WHO classifications. We identified this fusion in 2 NETs. The first case involved a 7-year-old girl and the second case occurred in a 53-year-old man; both presented with headaches and vomiting. The pediatric case initially showed an intermediate grade of the tumor, but upon recurrences, it transformed into a high-grade tumor with 2 relapses in 8.3 years. This case exhibited high mitotic activity (20/10 high-power fields), and a high Ki-67 index (21%). The TERT promoter (TERTp) mutation was present in both initial and recurrent tumors. In contrast, the adult case was a low-grade tumor with no mitotic activity or recurrence over 13.5 months after subtotal resection and gamma knife surgery. Interestingly, the pediatric case demonstrated a longer survival time compared to conventional glioblastoma. The TERTp mutation, similar to being a molecular signature in adult-type glioblastoma, could also be an indicator of high-grade behavior in PATZ1 fusion NET., (© The Author(s) 2023. Published by Oxford University Press on behalf of American Association of Neuropathologists, Inc. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Astroblastomas are extremely rare neuroepithelial tumors of uncertain histogenesis, affecting children and young adults, and constitute a new addition to the WHO 2000 classification of CNS tumors.We report the largest series of nine cases diagnosed in a single institute over the last 13 years and review published literature. Mean age at presentation was 12.8 years (range: 22 months to 27years). Seven out of nine caseswere supratentorial (frontal/frontoparietal - three, parieto-occipital - three, parafalcine - one), one was intraventricular and another was optochaismatic/ suprasellar. Five cases were high grade (anaplastic) astroblastomas with Ki-67 labeling index of 8-10%. Immunohistochemical and ultrastructural evidence suggesting origin from cells intermediate between ependymocytes and astrocytes is presented. The histogenetic origin of these tumors remains speculative. But the lack of Isocitrate dehydrogenase 1 (IDH1) mutation as detected by immunohistochemistry in this study, which is similar to ependymomas supports putative origin from ependymoglial cells. Out of the nine cases, recurrence was noted in one case, 12 months after gross total resection with progression to high grade in the recurrent tumor. There is no recommended treatment protocol due to the rarity of this entity and prognostic factors are yet to be established. [ABSTRACT FROM AUTHOR]

Background and Importance: The occurrence of multiple tumors of different histopathologies in the central nervous -system is rare. Here, we report a case of a child with dual neuroepithelial tumors of different histological cell types and -review the available literature for analyzing the causal hypo-thesis. Case Report: A 7-year-old girl presented with history of headaches associated with multiple episodes of early morning projectile vomiting and visual blurring. Magnetic resonance imaging (MRI) showed a well-defined lesion in the hypothalamic region. The patient underwent resection of the tumor by the transcallosal transfornicial approach. Histopathology was suggestive of pilocytic astrocytoma. After 3 years, the patient presented with low back pain radiating to the right lower limb followed by sudden onset of weakness in both lower limbs. Recent MRI brain and spine scans showed a small residual lesion at the hypothalamus with D1 to D10 syrinx. A T1 hypointense and T2 hyperintense cystic lesion from D10 to S2 with intensely enhancing solid component at the S1, S2 region was also detected. The patient underwent L4 to S2 laminectomy and the histopathological examin-ation revealed myxopapillary ependymoma. Conclusion: The presence of multiple neuroepithelial tumors of different histopathology in the same patient is extremely rare, and we report one such case of dual gliomas with hypothalamic pilocytic astrocytoma and cauda equina myxopapillary ependymoma in a 10-year-old patient. During the course of development, displacement and dedifferentiation of primitive totipotent neuroepithelial germ cells may be a causal factor for the appearance of the different neuroepithelial tumors in neuraxis concomitantly or subsequently, which might be substantiated by common cytogenetic abnormalities in different neuroepithelial tumor histogenesis. Copyright © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Clinical data have shown that survival rates vary considerably among brain tumor patients, according to the type and grade of the tumor. Metabolite profiles of intact tumor tissues measured with high-resolution magic-angle spinning proton nuclear magnetic resonance spectroscopy (HRMAS H NMRS) can provide important information on tumor biology and metabolism. These metabolic fingerprints can then be used for tumor classification and grading, with great potential value for tumor diagnosis. We studied the metabolic characteristics of 30 neuroepithelial tumor biopsies, including two astrocytomas (grade I), 12 astrocytomas (grade II), eight anaplastic astrocytomas (grade III), three glioblastomas (grade IV) and five medulloblastomas (grade IV) from 30 patients using HRMAS H NMRS. The results were correlated with pathological features using multivariate data analysis, including principal component analysis (PCA). There were significant differences in the levels of N-acetyl-aspartate (NAA), creatine, myo-inositol, glycine and lactate between tumors of different grades ( P<0.05). There were also significant differences in the ratios of NAA/creatine, lactate/creatine, myo-inositol/creatine, glycine/creatine, scyllo-inositol/creatine and alanine/creatine ( P<0.05). A soft independent modeling of class analogy model produced a predictive accuracy of 87% for high-grade (grade III-IV) brain tumors with a sensitivity of 87% and a specificity of 93%. HRMAS H NMR spectroscopy in conjunction with pattern recognition thus provides a potentially useful tool for the rapid and accurate classification of human brain tumor grades. [ABSTRACT FROM AUTHOR]

We describe a rare case of multinodular cerebral neuroepithelial tumor with ependymal differentiation. A 65-year-old man experienced loss of consciousness with an obscure episode of seizure attack. Magnetic resonance images disclosed a lesion located in the left temporal lobe and the insular cortex. The tumor was partially removed. Histologically, the tumor showed infiltrating multinodular tumor nodules in the cerebrum. Each nodule was well demarcated and composed of clear cells with perinuclear halos, intermingled fibrillary cells, and poorly differentiated neuroepithelial cells with mitotic activity. Immunohistochemically, clear cells showed dot-like positivity for epithelial membrane antigen. Fibrillary cells were positive for vimentin and nestin, whereas only a few glial fibrillary acidic protein-immunopositive cells were seen. We conclude that this tumor, being microscopically characterized by multinodular tumor nodules, was a high-grade neuroepithelial tumor with ependymal differentiation. [ABSTRACT FROM AUTHOR]

We report a case of de novo malignant ganglioglioma. A 61-year-old male presented with a 12-day history of headaches and general malaise. Pre-operative magnetic resonance imaging revealed an irregular enhancing mass in the left temporal lobe with associated dural enhancement and subacute subdural hematoma. The findings at surgery were of a vascular tumor intimately involving the surrounding white matter, with central necrosis. Histological and immunohistochemical studies showed an anaplastic ganglioglioma with World Health Organization grade IV characteristics. Gangliogliomas of the central nervous system are rare and are typified by a pediatric predilection and indolent behavior. A review of the de novo anaplastic and malignant gangliogliomas is presented. [ABSTRACT FROM AUTHOR]

A case of unclassified, pediatric cerebral neuroepithelial tumor in a 10-year-old girl that showed remarkable radiosensitivity is reported. MRI revealed a brain tumor of mixed intensity with heterogeneous enhancement in the medial temporal lobe, extending to the basal ganglia. The tumor was partially removed. On pathology, the main part of the tumor showed immature features: the tumor cells had a chromatin-rich large nucleus and less cytoplasm, and mitoses and fragmentation of the nuclei were frequent. On immunohistochemistry, the tumor cells were negative for glial fibrillary acidic protein (GFAP) and synaptophysin and positive for Olig2. The maximum MIB-1 index was 70%. The part invading into the surrounding brain showed similarities in form to a highly anaplastic astrocytoma. The infiltrating tumor cells were positive for GFAP and less positive for Olig2. After 40 Gy radiation, the residual tumor was markedly reduced. Neuroepithelial tumors rarely show such high radiosensitivity, and the reason for the radiosensitivity in the present case may have been the immaturity of the tumor cells. [ABSTRACT FROM AUTHOR]

Dysembryoplastic neuroepithelial tumor (DNT) is an increasingly recognized surgically curable tumor that characteristically presents with seizures in children. We report a case of a patient who underwent resection of a histologically proven DNT at 6 years of age. The resection was thought to be total at the time of surgery, and this impression was confirmed on postoperative imaging. Following the initial resection, the patient underwent surveillance imaging at regular intervals. Six years following the initial surgery, surveillance imaging demonstrated an enlarging area of signal abnormality at the site of the prior resection. The patient underwent a second resection with pathological confirmation of DNT recurrence. Although recurrence of DNT following resection is rare, this case suggests that surveillance imaging may have a role in patients with DNT, even following resections that are thought to be complete. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Purpose: To describe the histologic spectrum and clinical characteristics of patients with neuroepithelial tumors and drug-resistant epilepsy and to analyze clinical data and treatment related to seizure outcome and survival. Methods: Data were analyzed from 207 consecutive patients with intractable epilepsy (aged 2-54 years), who between 1988 and 1999 had ≥50% resection of supratentorial, neuroepithelial tumors. Extent of resection was assessed on postoperative magnetic resonance imaging (MRI); seizure outcome was classified according to Engel's outcome scale; and follow-up data were prospectively updated. Results: Median follow-up was eight years (range, 2-14 years). Histologic examination revealed 154 classic epilepsy-associated tumors (ganglioglioma, dysembryoplastic neuroep-ithelial tumor, pleomorphic xanthoastrocytoma, and pilocytic astrocytomas) and 53 others (astrocytomas and oligoden-drogliomas). Four World Health Organization (WHO) grade III tumors were found (astrocytoma, n = 3; ganglioglioma, n = 1).After surgery, 82% of the patients were seizure free (class I). The following factors were associated with improved seizure outcome: Short duration of epilepsy before surgery, single EEG focus, absence of additional hippocampal sclerosis or cortical dysplasia, transsylvian approach, other than astrocytomas, and complete tumor resection. After 5 years, only nine (4%) patients had tumor recurrence, four (2%) with malignant transformation and death. None of the four patients with anaplastic tumors died. Even patients with astrocytomas of WHO grade II or III showed 10-year recurrence of only 25% and 10-year survival of 90%. Conclusions: Tumors associated with long-term epilepsy should be removed early for two different reasons: high rate of seizure freedom and rare but potential risk of malignant tumor progression. The unexpected long survival of these astro-cytomas should be investigated by using immunohistochemistry and molecular biology. [ABSTRACT FROM AUTHOR]

Background: Diffuse leptomeningeal glioneuronal tumor (DLGNT), also known as oligodendrogliomatosis, is a rare neuro-oncologic condition along the neuraxis that remains poorly understood in children. We sought to describe our institutional experience and quantitively summarize the clinical survival and prognostic features of DLGNT in the pediatric population across the contemporary literature., Methods: We report four institutional cases of pediatric DLGNT diagnosed between 2000 and 2020 based on retrospective review of our records, and performed a comprehensive literature search for published cases from 2000 onwards to create an integrated cohort for analysis. Kaplan-Meier estimations, Fisher's exact test, and logistic regression were utilized to interrogate the data., Results: Of our four cases, three females aged 2-, 3- and 13-years old at diagnosis survived 6-years, 3-years and 14-months respectively, and one male aged 5-years old at diagnosis was still alive 5 years later. Our overall integrated cohort consisted of 54 pediatric DLGNT patients, with 19 (35%) female and 35 (65%) male patients diagnosed at an average age of 6.4 years (range, 1.3-17 years) by means of surgical biopsy. Chemotherapy was used in 45 cases (83%), and mean follow-up time of 54 months (range, 3-204). Across the entire cohort, overall survival 1 month after diagnosis was 96% (95% CI 86-99%), and by 10 years was 69% (95% CI 49-82%). On multivariate analysis of complete data, chemotherapy treatment (HR=0.23, P = 0.04) was statistically predictive of longer overall survival., Conclusions: More than 2-out-of-3 pediatric DLGNT patients survive beyond one decade. Chemotherapy is statistically associated with longer survival in DLGNT pediatric patients and should form the core of any treatment regimen in this setting. Early detection by means of judicious imaging and surgical biopsy for tissue diagnosis can lead to earlier treatment and likely superior outcomes., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Desmoplastic infantile ganglioglioma (DIG) is a rare supratentorial neuroepithelial neoplasm predominantly occurring in children under 1 year of age. In this report, the authors present the clinical course, radiographic findings, and histologic and ultrastructural characteristics of the tumor in a 6 month - old girl, who presented with intermittent seizure activity. Cranial computed tomography and magnetic resonance imaging revealed a large, dura - based cystic lesion with an enhancing solid component in the right parietal - occipital lobe. The tumor histologically was characterized by a leptomeningeal based growth pattern with intense desmoplasia and divergent astroglial and ganglionic differentiation identified through immunohistochemistry and electron microscopy. Eleven months after complete surgical resection, the girl shows normal development without residual neurologic sequelae. Typically, the majority of these tumors are slow growing, appear histologically benign, and histogenetically thought to be hamartomas rather than true neoplasms. Complete surgical resection is considered curative. [ABSTRACT FROM AUTHOR]