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Folia Neuropathologica 2017. (Review)
Review
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Topics: Brain Neoplasms; Glioma; Humans; Neoplasms, Neuroepithelial
PubMed: 28430287
DOI: 10.5114/fn.2017.66708 -
Journal of Pediatric Hematology/oncology Jul 2024In the most recent fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System, astroblastoma has been defined by molecular...
In the most recent fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System, astroblastoma has been defined by molecular rearrangements involving the MN1 gene, with common partners being BEND2 or CXXC5 . Accordingly, this tumor entity is now known as "astroblastoma, MN1 -altered." However, gliomas with EWSR1::BEND2 fusions, devoid of MN1 fusion alterations, have recently been shown to exhibit astroblastoma-like histomorphologic features and reside in a distinct epigenetic subgroup based on DNA methylation studies similar to high-grade neuroepithelial tumor with MN1 alteration, which includes astroblastoma, MN1 altered tumors. This new epigenetically distinct subtype of astroblastoma containing EWSR1::BEND2 fusions lacks the required MN1 alteration and, thus, does not satisfy the current molecular classification of these lesions. Here, we describe a case of glioma with histologic features and DNA methylation profiling consistent with astroblastoma with a novel YAP1: : BEND2 fusion. This case and others further expand the molecular findings observable in astroblastoma-like tumors outside the constraints of MN1 alteration. Such cases of astroblastoma with EWSR1::BEND2 and YAP1::BEND2 fusions challenge the current molecular classification of astroblastoma based solely on an MN1 alteration.
Topics: Humans; Neoplasms, Neuroepithelial; Transcription Factors; YAP-Signaling Proteins; Adaptor Proteins, Signal Transducing; Oncogene Proteins, Fusion; Brain Neoplasms; Male; DNA Methylation; Phosphoproteins; Female
PubMed: 38857191
DOI: 10.1097/MPH.0000000000002885 -
Epilepsy & Behavior : E&B Feb 2017Neoplastic CNS lesions are a common cause of focal epilepsy refractory to anticonvulsant treatment, i.e. long-term epilepsy-associated tumors (LEATs). Epileptogenic... (Review)
Review
Neoplastic CNS lesions are a common cause of focal epilepsy refractory to anticonvulsant treatment, i.e. long-term epilepsy-associated tumors (LEATs). Epileptogenic tumors encompass a variety of intriguing lesions, e.g. dysembryoplastic neuroepithelial tumors or gangliogliomas, which differ from more common CNS neoplasms in their clinical context as well as on histopathology. Long-term epilepsy-associated tumor classification is a rapidly evolving issue in surgical neuropathology, with new entities still being elucidated. One major issue to be resolved is the inconsistent tissue criteria applied to LEAT accounting for high diagnostic variability between individual centers and studies, a problem recently leading to a proposal for a new histopathological classification by Blümcke et al. in Acta Neuropathol. 2014; 128: 39-54. While a new approach to tissue diagnosis is appreciated and needed, histomorphological criteria alone will not suffice and we here approach the situation of encountering a neoplastic lesion in an epilepsy patient from a clinical perspective. Clinical scenarios to be supported by an advanced LEAT classification will be illustrated and discussed.
Topics: Brain Neoplasms; Epilepsies, Partial; Epilepsy; Ganglioglioma; Humans; Neoplasms, Neuroepithelial
PubMed: 28110204
DOI: 10.1016/j.yebeh.2016.12.020 -
European Journal of Radiology Dec 2017Papillary glioneuronal tumors (PGNT) are a rare and recently recognized tumor entity. The neuroimaging findings were reviewed to determine if any specific findings...
OBJECTIVE
Papillary glioneuronal tumors (PGNT) are a rare and recently recognized tumor entity. The neuroimaging findings were reviewed to determine if any specific findings emerge to assist a preoperative diagnosis of PGNT.
MATERIALS AND METHODS
Seven histologically confirmed cases of PGNT were evaluated from 2004 to 2014. Clinical, neuroimaging and histological findings were reviewed and tabulated.
RESULTS
Headache and seizures were observed in 4 patients (57.1%) each. The majority (n=5, 71.4%) of lesions were periventricular and located in temporal lobe with 57.1% cases being solid cystic (n=4), and 42.9% being purely solid (n=3). Calcification and hemorrhage were noted in 3 cases (42.9%) and 5 cases (71.4%) respectively. The most frequent imaging feature was the presence of septations in the cystic component that enhanced on contrast which correlated with long pseudopapillary projections into the cyst cavity on histopathology. The solid inner component demonstrated heterogeneous enhancement. One case with tumor recurrence demonstrated hemorrhage with superficial siderosis, patchy diffusion restriction, raised choline and focal areas of raised perfusion which correlated on histopathology with increased cellularity and anaplasia.
CONCLUSION
Presence of cystic mass in periventricular location with septations and a solid inner component should raise a suspicion of PGNT on neuroimaging.
Topics: Adolescent; Adult; Brain Neoplasms; Calcinosis; Central Nervous System Cysts; Child; Child, Preschool; Female; Headache Disorders; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Neoplasm Recurrence, Local; Neoplasms, Neuroepithelial; Neuroimaging; Retrospective Studies; Seizures; Temporal Lobe; Young Adult
PubMed: 29153366
DOI: 10.1016/j.ejrad.2017.10.004 -
Neuropathology : Official Journal of... Dec 2018Astroblastoma is a rare glial neoplasm that occurs mostly in the cerebral hemisphere of children, adolescents and young adults. Although astroblastic perivascular...
Astroblastoma is a rare glial neoplasm that occurs mostly in the cerebral hemisphere of children, adolescents and young adults. Although astroblastic perivascular pseudorosettes are unique histopathology of this neoplasm, diagnosis is usually challenging. Recently, it was discovered that the meningioma 1 gene (MN1)-altered pediatric central nervous system high-grade neuroepithelial tumors are actually astroblastomas. This case report presents a rare brainstem astroblastoma, with an unusual immunoprofile: negative for glial fibrillary acidic protein and oligodendrocyte transcription factor 2, but with a robust expression of pancytokeratin and epithelial membrane antigen. The diagnosis was confirmed based on the detection of MN1 rearrangement in a fluorescence in situ hybridization study, in addition to typical histopathology. Here we discuss the diagnostic pitfalls and unclear grading system along with a literature review.
Topics: Brain Stem Neoplasms; Child; Humans; Male; Neoplasms, Neuroepithelial; Trans-Activators; Translocation, Genetic; Tumor Suppressor Proteins
PubMed: 30238518
DOI: 10.1111/neup.12514 -
Journal of Neurosurgery. Spine Jun 2018Astroblastoma is a rare tumor that is thought to occur exclusively in the cerebrum. To the authors' knowledge, no cases of spinal cord astroblastoma have been reported....
Astroblastoma is a rare tumor that is thought to occur exclusively in the cerebrum. To the authors' knowledge, no cases of spinal cord astroblastoma have been reported. A 20-year-old woman presented with numbness in her legs. MRI demonstrated a 2-cm intramedullary enhancing lesion in the spinal cord at the T-1 level. The patient declined to undergo resection of the tumor because she was able to walk unassisted; however, she returned for surgery 1 month later because she had developed paraplegia with bladder and rectal dysfunction, and MRI showed enlargement of the tumor. Intraoperatively, the border between the tumor and normal tissue was poorly defined. Biopsy samples were obtained for histopathological examinations, and a diagnosis of astroblastoma with a Ki-67 index of 5% was made. Considering the rapid tumor growth on MRI and remarkable deterioration in her symptoms, the patient was treated with a combination of radiation therapy, temozolomide (TMZ), and bevacizumab. After completion of the combined treatment, she was able to move her toes, and oral TMZ and bevacizumab injections were continued. Six months later, definite tumor shrinkage was identified on MRI, and the patient was able to stand up from a wheelchair without assistance and walk by herself. No therapeutic regimens for residual astroblastoma are established; however, in this case the authors' therapeutic strategy was successful in treating the spinal cord astroblastoma.
Topics: Combined Modality Therapy; Diagnosis, Differential; Female; Humans; Neoplasms, Neuroepithelial; Recovery of Function; Spinal Cord Neoplasms; Young Adult
PubMed: 29498581
DOI: 10.3171/2017.9.SPINE161302 -
Brain Pathology (Zurich, Switzerland) Jan 2022The BRAF p.V600E mutation is the most common genetic alteration in ganglioglioma (GG). Herein, we collected a consecutive series of 30 GG specimens from Xuanwu Hospital...
The BRAF p.V600E mutation is the most common genetic alteration in ganglioglioma (GG). Herein, we collected a consecutive series of 30 GG specimens from Xuanwu Hospital in order to corroborate the genetic landscape and genotype-phenotype correlation of this enigmatic and often difficult-to-classify epilepsy-associated brain tumor entity. All specimens with histopathologically confirmed lesions were submitted to targeted next-generation sequencing using a panel of 131 genes. Genetic alterations in three cases with histologically distinct tumor components, that is, GG plus pleomorphic xanthoastrocytoma (PXA), dysembryoplastic neuroepithelial tumor (DNT), or an oligodendroglioma (ODG)-like tumor component, were separately studied. A mean post-surgical follow-up time-period of 23 months was available in 24 patients. Seventy seven percent of GG in our series can be explained by genetic alterations, with BRAF p.V600E mutations being most prevalent (n = 20). Three additional cases showed KRAS p.Q22R and KRAS p.G13R, IRS2 copy number gain (CNG) and a KIAA1549-BRAF fusion. When genetically studying different histopathology patterns from the same tumor we identified composite features with BRAF p.V600E plus CDKN2A/B homozygous deletion in a GG with PXA features, IRS2 CNG in a GG with DNT features, and a BRAF p.V600E plus CNG of chromosome 7 in a GG with ODG-like features. Follow-up revealed no malignant tumor progression but nine patients had seizure recurrence. Eight of these nine GG were immunoreactive for CD34, six patients were male, five were BRAF wildtype, and atypical histopathology features were encountered in four patients, that is, ki-67 proliferation index above 5% or with PXA component. Our results strongly point to activation of the MAP kinase pathway in the vast majority of GG and their molecular-genetic differentiation from the cohort of low-grade pediatric type diffuse glioma remains, however, to be further clarified. In addition, histopathologically distinct tumor components accumulated different genetic alterations suggesting collision or composite glio-neuronal GG variants.
Topics: Astrocytoma; Brain Neoplasms; Child; Epilepsy; Ganglioglioma; Homozygote; Humans; Male; Mutation; Phenotype; Proto-Oncogene Proteins B-raf; Sequence Deletion
PubMed: 34355449
DOI: 10.1111/bpa.13011 -
Pediatrics in Review Feb 2018
Review
Topics: Hepatoblastoma; Humans; Infant; Kidney Neoplasms; Liver Neoplasms; Neoplasms, Neuroepithelial; Retinal Neoplasms; Wilms Tumor
PubMed: 29437125
DOI: 10.1542/pir.2017-0057 -
Journal of Neuropathology and... Oct 2023We present the clinicopathological and molecular genetic characteristics of a neuroepithelial tumor (NET), EWSR1::PATZ1 fusion-positive with a literature review. This... (Review)
Review
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.
Topics: Male; Adult; Female; Humans; Child; Middle Aged; Glioblastoma; Neoplasm Recurrence, Local; Transcription Factors; Neoplasms, Neuroepithelial; Sarcoma; Biomarkers, Tumor; Repressor Proteins; Kruppel-Like Transcription Factors; RNA-Binding Protein EWS
PubMed: 37804108
DOI: 10.1093/jnen/nlad076 -
Pediatric and Developmental Pathology :... 2022Since the 1990s, the sheer number of defined central nervous system (CNS) embryonal tumor entities has continuously increased, with the trend accelerating in the most... (Review)
Review
Since the 1990s, the sheer number of defined central nervous system (CNS) embryonal tumor entities has continuously increased, with the trend accelerating in the most recent editions of the World Health Organization (WHO) Classification of Tumours of the CNS. The introduction of increasingly specific tumor groups is an effort to create more internally homogeneous categories, to allow more precise prognostication, and potentially to develop targeted therapies. However, these ever-smaller categories within an already rare group of tumors pose a challenge for pediatric pathologists. In this article we review the current categorization of non-medulloblastoma CNS embryonal tumors (including atypical teratoid/rhabdoid tumor, cribriform neuroepithelial tumor, embryonal tumor with multilayered rosettes, CNS neuroblastoma, -activated, and CNS tumor with internal tandem duplication) and provide an overview of available ancillary techniques to characterize these tumors. We provide a practical approach to workup and development of an integrated diagnosis for CNS embryonal tumors.
Topics: Central Nervous System; Central Nervous System Neoplasms; Cerebellar Neoplasms; Child; Forkhead Transcription Factors; Humans; Medulloblastoma; Neoplasms, Germ Cell and Embryonal
PubMed: 35168419
DOI: 10.1177/10935266211018554