Journal articleCNS Oncol · December 2026
This case report characterizes the molecular pathology of two synchronous IDH mutant gliomas in a 28-year-old female patient. The patient exhibited symptoms of dizziness, retro-orbital pain, headache, and numbness with paresthesia in her right arm. MRI ima ...
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Journal articleViruses · April 22, 2026
Epstein-Barr virus (EBV)-positive primary central nervous system lymphoma (PCNSL) is a rare entity typically associated with profound immunosuppression, most commonly in transplant recipients or individuals with HIV. We report a case of EBV-positive PCNSL ...
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Journal articleCell Rep Med · April 21, 2026
Despite advances in immune checkpoint blockade, resistance in metastatic melanoma remains a major challenge. To decode resistance mechanisms, we generate a comprehensive longitudinal, multi-omic, and spatial atlas of 45 tumor samples across 10 patients. An ...
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ConferenceCancer Research · April 3, 2026
AbstractThe World Health Organization provides clear criteria for diagnosing IDH1-wildtype glioblastoma (GBM), relying on traditional approaches to define pathoetiological features, genomic mutations, cop ...
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Journal articleNeuro Oncol · April 1, 2026
BACKGROUND: Intracranial mesenchymal tumors, FET::CREB fusion-positive (ICMT), show fusions involving FET RNA-binding protein family genes (EWSR1 or FUS) and CREB family of transcription factors (ATF1, CREB1, or CREM). The methylation signature(s), gene ex ...
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ConferenceCancer Research · March 23, 2026
AbstractThe cGAS–STING pathway is a key component of innate antitumor immunity. Cytosolic double-stranded DNA is sensed by cGAS to generate cGAMP, the endogenous substrate for STING, whose activation prim ...
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ConferenceNeuro-Oncology · November 11, 2025
AbstractThe World Health Organization provides clear criteria for diagnosing IDH1-wildtype glioblastoma (GBM), relying on traditional approaches to define pathoetiological features, genomic mutations, cop ...
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ConferenceNeuro-Oncology · November 11, 2025
AbstractINTRODUCTIONGlioblastoma is the most common malignant adult brain tumor with poor prognosis, largely due to its heterog ...
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ConferenceNeuro-Oncology · November 11, 2025
AbstractBACKGROUNDIdentification of biomarkers for overall survival (OS) in oligodendroglioma has proven challenging due to 1) ...
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ConferenceNeuro-Oncology · November 11, 2025
AbstractBACKGROUNDOligodendrogliomas are a distinct subtype of diffuse gliomas that arise from glial cells resembling oligodend ...
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Journal articleSci Rep · October 23, 2025
Many cancers evade immunosurveillance by downregulating surface major histocompatibility class (MHC)-I. Proprotein convertase subtilisin/kexin type 9 (PCSK9) promotes MHC-I degradation and is elevated in glioma. Evolocumab is a clinically approved PCSK9 in ...
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Preprint · 2025
AbstractMany cancers evade immunosurveillance by downregulating surface major histocompatibility class (MHC)-I. Proprotein convertase subtilisin/kexin type 9 (PCSK9) promotes MHC-I degradation and is elevated in glioma. Evolocumab is a ...
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ConferenceNeuro-Oncology · November 11, 2024
AbstractOligodendrogliomas are progressive, infiltrative gliomas. While new molecular criteria were introduced in 2016 for diagnosing oligodendroglioma, the grading criteria remains largely unchanged. We eva ...
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ConferenceNeuro-Oncology · November 11, 2024
AbstractGlioblastoma, the most common malignant primary adult brain tumor, poses significant diagnostic and treatment challenges due to its heterogeneous molecular and micro-environmental profiles. To this e ...
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Journal articleJ Clin Invest · August 13, 2024
Despite being the leading cause of cancer-related childhood mortality, pediatric gliomas have been relatively understudied, and the repurposing of immunotherapies has not been successful. Whole-transcriptome sequencing, single-cell sequencing, and sequenti ...
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Journal articleActa Neuropathol Commun · April 22, 2024
Glioblastoma (GBM) remains an untreatable malignant tumor with poor patient outcomes, characterized by palisading necrosis and microvascular proliferation. While single-cell technology made it possible to characterize different lineage of glioma cells into ...
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ConferenceCancer Research · March 22, 2024
AbstractIntroduction: The diverse tumor environment of high-grade glioma, which remains refractory to treatment, demands new innovative, multi-omic approaches to characterize tumor heterogeneity and expressi ...
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Journal articleNeuro Oncol · September 5, 2023
BACKGROUND: Malignant gliomas commandeer dense inflammatory infiltrates with glioma-associated macrophages and microglia (GAMM) promoting immune suppression, evasion, and tumor progression. Like all cells in the mononuclear phagocytic system, GAMM constitu ...
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ConferenceNeuro-Oncology · June 12, 2023
AbstractGangliogliomas are glioneuronal brain tumors that typically present in childhood or early adulthood. Though most often low-grade, new insights are needed to refine glioneuronal tumor classification a ...
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ConferenceJournal of Clinical Oncology · June 1, 2023
2070 Background: Leptomeningeal disease (LMD) is a challenging complication of high grade glioma (HGG) and questions remain regarding risk factors, molecular associations, and optimal treatment. Here we report updated results on ...
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ConferenceJournal of Clinical Oncology · June 1, 2023
2066 Background: The frequency and expression of predictive immune biomarkers in pediatric gliomas is relatively unknown. Here, we sought to define predictive signatures of immunotherapy responders by examining immune checkpoint ...
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Journal articleActa Neuropathol Commun · March 25, 2023
Gangliogliomas are brain tumors composed of neuron-like and macroglia-like components that occur in children and young adults. Gangliogliomas are often characterized by a rare population of immature astrocyte-appearing cells expressing CD34, a marker expre ...
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Journal articleActa Neuropathol · January 2023
High-grade astrocytoma with piloid features (HGAP) is a recently recognized glioma type whose classification is dependent on its global epigenetic signature. HGAP is characterized by alterations in the mitogen-activated protein kinase (MAPK) pathway, often ...
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Journal articleUltrastruct Pathol · November 20, 2020
A number of neoplasms of the central nervous system can demonstrate diffuse eosinophilic globules, known to be secretory products of the corresponding cell type, but they have not been a salient feature in descriptions of classic ependymoma. Here, we prese ...
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Journal articleClin Lung Cancer · November 2020
INTRODUCTION: Pulmonary sarcomatoid carcinoma (PSC) is a rare subtype of non-small-cell lung cancer (NSCLC) harboring mutations in many canonical NSCLC-driver genes (eg, TP53, KRAS, MET). Protection of telomeres 1 (POT1) mutations are observed in angiosarc ...
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Journal articleJ Med Genet · October 2020
BACKGROUND: The shelterin complex is composed of six proteins that protect and regulate telomere length, including protection of telomeres 1 (POT1). Germline POT1 mutations are associated with an autosomal dominant familial cancer syndrome presenting with ...
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Journal articleCA Cancer J Clin · July 2020
Glioblastoma is the most common malignant primary brain tumor. Overall, the prognosis for patients with this disease is poor, with a median survival of <2 years. There is a slight predominance in males, and incidence increases with age. The standard approa ...
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Journal articleBMC Neurol · March 21, 2020
BACKGROUND: Psoriasis is the most common chronic inflammatory condition involving the T helper cell system. Population studies have demonstrated that patients with psoriasis and/or psoriatic arthritis have an increased risk of developing vascular risk fact ...
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Journal articlePLoS One · 2020
Human mesenchymal stem/stromal cells (hMSCs) are a promising therapy for acute respiratory distress syndrome (ARDS) and other inflammatory conditions. While considerable research has focused on paracrine effects and mitochondrial transfer that improve lung ...
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Journal articleNeuropathol Appl Neurobiol · February 2019
Pilocytic astrocytomas are typically grade I astrocytomas, only rarely progressing to anaplastic counterparts [1]. In the case of anaplastic pilocytic astrocytomas, some are associated with neurofibromatosis type 1 (NF1) [2], others are associated with rad ...
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Journal articleActa Neuropathol · January 2019
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Radiotherapy improves survival for common childhood cancers such as medulloblastoma, leukemia, and germ cell tumors. Unfortunately, long-term survivors suffer sequelae that can include secondary neoplasia. Gliomas are common secondary neoplasms after crani ...
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Journal articleJ Neurosurg Pediatr · November 1, 2018
Calcifying pseudoneoplasms of the neuraxis (CAPNONs) are rare, nonneoplastic lesions of the CNS. Their radiographic features have been well described, with prominent calcifications seen on CT imaging and generally uniform hypointensity on T1- and T2-weight ...
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Journal articleRadiol Case Rep · April 2018
Solitary fibrous tumor/hemangiopericytomas (SFT/HPC) are soft tissue tumors that can arising from the abomen, pleura, head and neck, or extremities. We report an unusual case of recurrent hemangiopericytoma in a 67-year-old female presenting with a painles ...
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Journal article · November 3, 2016
Abstract
Brain tumour genetics allow for improved classification and development of therapeutic options for primary brain tumours. Tumours with speci ...
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Journal articleCase Rep Oncol · 2015
Ependymomas, tumors of the ependymal cells, are very rare and usually present in the pediatric population. Furthermore, there are even rarer variants of ependymomas that can include cellular, papillary, clear cell, and tanycytic subtypes. We present a case ...
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Book section · January 1, 2015
Featured Publication
Glioblastoma multiforme (GBM), or Grade IV astrocytoma, is one of the most common and malignant primary tumors of the central nervous system in adults [1]. Despite years of research and advances, the average survival after diagnosis remains about 12 months ...
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Journal articleJ Clin Invest · September 2014
Featured Publication
Aberrant activation of EGFR in human cancers promotes tumorigenesis through stimulation of AKT signaling. Here, we determined that the discoidina neuropilin-like membrane protein DCBLD2 is upregulated in clinical specimens of glioblastomas and head and nec ...
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Journal articleCancer Res · January 15, 2013
Point mutations at Arg132 of the cytoplasmic NADP(+)-dependent isocitrate dehydrogenase 1 (IDH1) occur frequently in gliomas and result in a gain of function to produce the "oncometabolite" D-2-hydroxyglutarate (D-2HG). The mutated IDH1 allele is usually a ...
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Journal articleOncotarget · August 2012
Frequent somatic hotspot mutations in isocitrate dehydrogenase 1 (IDH1) have been identified in gliomas, acute myeloid leukemias, chondrosarcomas, and other cancers, providing a likely avenue for targeted cancer therapy. However, whether mutant IDH1 protei ...
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Journal articleOncotarget · July 2012
Mutations in the critical chromatin modifier ATRX and mutations in CIC and FUBP1, which are potent regulators of cell growth, have been discovered in specific subtypes of gliomas, the most common type of primary malignant brain tumors. However, the frequen ...
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Journal articleNature · February 15, 2012
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The identification of succinate dehydrogenase (SDH), fumarate hydratase (FH) and isocitrate dehydrogenase (IDH) mutations in human cancers has rekindled the idea that altered cellular metabolism can transform cells. Inactivating SDH and FH mutations cause ...
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Journal articlePLoS One · 2012
The urea cycle converts toxic ammonia to urea within the liver of mammals. At least 6 enzymes are required for ureagenesis, which correlates with dietary protein intake. The transcription of urea cycle genes is, at least in part, regulated by glucocorticoi ...
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Journal articleCurr Opin Neurol · December 2011
PURPOSE OF REVIEW: Isocitrate dehydrogenases, IDH1 and IDH2, decarboxylate isocitrate to α-ketoglutarate (α-KG) and reduce NADP to NADPH. Point mutations of IDH1 and IDH2 have been discovered in gliomas. IDH mutations cause loss of native enzymatic activit ...
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Journal article · March 15, 2011
AbstractBrain tumour genetics allow for improved classification and development of therapeutic options for certain primary brain tumours. Tumours with specific genetic alterations and molecular profil ...
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Journal articleBiochem Biophys Res Commun · July 30, 2010
Isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) are enzymes which convert isocitrate to alpha-ketoglutarate while reducing nicotinamide adenine dinucleotide phosphate (NADP+to NADPH). IDH1/2 were recently identified as mutated in a ...
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Journal articleAnn N Y Acad Sci · November 2008
Gastrin-releasing peptide (GRP) is produced by pulmonary neuroendocrine cells (PNECs), with highest numbers of GRP-positive cells present in fetal lung. Normally GRP-positive PNECs are relatively infrequent after birth, but PNEC hyperplasia is frequently a ...
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Journal articleMol Genet Metab · March 2006
N-Acetylglutamate synthase (NAGS, EC 2.3.1.1) is a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetylcoenzyme A. NAG is an obligatory activator of carbamylphosphate I (CPSI), the first and a rate limiting ...
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Journal articleHum Mutat · March 2005
N-acetylglutamate (NAG) is a unique cofactor that is essential for the conversion of ammonia to urea in the liver. N-acetylglutamate synthase (NAGS) catalyzes the formation of NAG. Deficiency of NAGS causes a block in ureagenesis resulting in hyperammonemi ...
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