João Lobo Antunes GCSE • GCIH • GCL foi um neurocirurgião português.
Introdução
O que você precisa saber de cara
Neoplasia rara do sistema nervoso central, caracterizada por proliferação de células gliais e neuronais com arquitetura papilar. Frequentemente associada a epilepsia e achados em ressonância magnética como lesões císticas com nódulo mural.
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Tumor glioneuronal papilar
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
3 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Papillary glioneuronal tumor presenting with recurrent epileptic seizures in a 6-year-old boy: A case report and comprehensive literature review.
Papillary glioneuronal tumor (PGNT) is a rare, World Health Organization (WHO) Grade I mixed glioneuronal neoplasm characterized by the presence of both neuronal and glial elements. It commonly presents with seizures or headaches and has a generally favorable prognosis after gross total resection. Here, we present an unusual case of PGNT with deep hemispheric extension involving the centrum semiovale, temporal lobe, and mesencephalon in a pediatric patient. A 6-year-old male patient presented with a history of two partial epileptic seizures over the past 3 months. On admission, neurological examination was unremarkable. Personal and family histories were non-contributory. Initial cranial magnetic resonance imaging (MRI) revealed a heterogeneous T2-hyperintense, T1-hypointense, noncontrast-enhancing lobulated lesion extending from the left centrum semiovale to the temporal lobe and mesencephalon with minimal rightward midline shift. The patient underwent left frontoparietal craniotomy and microsurgical excision under neuronavigation. Given the tumor's eloquent location, a safe subtotal resection was performed. Histopathological evaluation revealed a WHO Grade I PGNT with glial fibrillary acidic protein, Olig2, and synaptophysin positivity and a low Ki-67 proliferation index (2-3%). Postoperatively, the patient had no neurological deficits and was discharged on the 7th day. A follow-up MRI is planned at 6 months. This case underscores the need to include PGNT in the differential diagnosis of pediatric patients presenting with new-onset focal seizures and MRI findings suggestive of a low-grade glioma. Surgical management is typically curative, resulting in excellent seizure control and long-term outcomes.
Pediatric low-grade epilepsy-associated tumors (LEATS): neuroimaging review and genetics update.
Low-grade epilepsy-associated tumors (LEATs) are a distinct group of tumors commonly encountered in pediatric drug-resistant epilepsy that necessitate surgical intervention. Like tumors elsewhere in the central nervous system, molecular characterization is becoming an increasingly important consideration in pediatric neuro-oncology prognostication and management for LEATs. Thus, familiarity with relevant tumor mutations and radiogenomic features of LEATs is important for radiologists caring for affected patients. This article will review the genetic alterations and imaging characteristics of LEATs, formatted according to the three categories defined by the World Health Organization (WHO): glioneuronal and neuronal tumors (ganglioglioma, dysembryoplastic neuroepithelial tumor, papillary glioneuronal tumor, multinodular and vacuolating neuronal tumor); circumscribed astrocytic gliomas (pilocytic astrocytoma, pleomorphic xanthoastrocytoma); and pediatric-type diffuse low-grade gliomas (diffuse astrocytoma MYB or MYBL1-altered, angiocentric glioma, diffuse low-grade glioma MAPK pathway-altered, polymorphous low-grade neuroepithelial tumor of the young).
SLC44A1::PRKCA fusion-positive glioneuronal tumor without histological and epigenetic features of papillary glioneuronal tumor.
Glioneuronal and Neuronal Tumors in Adults: WHO 2021 Imaging and Molecular Updates.
Glioneuronal and neuronal tumors are defined histologically by the presence of mixed glial and neuronal elements in the case of glioneuronal tumors, and by neuronal elements in the case of neuronal tumors. In 2021, the World Health Organization (WHO) published the latest edition of central nervous system tumor classifications and added three new glioneuronal tumors, as well as further delineated histological, immunohistochemical, and molecular markers associated with the diagnosis of these tumors. This review aims to highlight the key updated features of glioneuronal and neuronal tumors in adults based on the 5th edition of the WHO classification of central nervous system tumors by clinical and epidemiological presentation, imaging appearance, and pathology.ABBREVIATIONS: DGONC = diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters; DLGNT = diffuse leptomeningeal glioneuronal tumor; DNET = dysembryoplastic neuroepithelial tumor; LEAT = long term epilepsy associated tumor; MGNT = myxoid glioneuronal tumor; MVNT = multinodular and vacuolating neuronal tumor; PGNT = papillary glioneuronal tumor; RGNT = rosette-forming glioneuronal tumor; WHO = World Health Organization.
Case Report: Advanced magnetic resonance imaging findings in two cases of anaplastic papillary glioneuronal tumor: one case with glioblastoma-like progression.
Papillary glioneuronal tumors (PGNTs) are classified by the World Health Organization (WHO) as Grade I neoplasms, with only sporadic reports of anaplastic variants demonstrating aggressive clinical behavior and distinct histopathological characteristics. This study presents two cases of anaplastic PGNT, including one that ultimately progressed to glioblastoma (WHO Grade IV). The first case involved a 47-year-old female patient without a history of seizures. Magnetic resonance imaging (MRI) revealed an irregular mass containing multiple cysts and a mural nodule in the left parietal lobe. Histopathological examination confirmed the diagnosis of anaplastic PGNT. Nineteen months later, follow-up brain MRI demonstrated a recurrent mass at the prior surgical site. During the second resection, histological analysis identified glioblastoma arising from the glial component of the original tumor. The second case concerned a 7-year-old boy presenting with progressive headache. MRI showed a solid-cystic mass in the right frontal lobe accompanied by marked peritumoral edema. Postoperative pathological examination revealed anaplastic PGNT with extensive necrosis. MRI characteristics including prominent peritumoral edema, ring-enhancing cyst walls, restricted diffusion, and elevated lipid/lactate peaks may predict the aggressive nature of anaplastic PGNT. Furthermore, this case series suggests that anaplastic PGNTs harbor malignant potential to transform into more aggressive neoplasms.
Publicações recentes
Papillary glioneuronal tumor presenting with recurrent epileptic seizures in a 6-year-old boy: A case report and comprehensive literature review.
🥉 Relato de casoPediatric low-grade epilepsy-associated tumors (LEATS): neuroimaging review and genetics update.
SLC44A1::PRKCA fusion-positive glioneuronal tumor without histological and epigenetic features of papillary glioneuronal tumor.
Case Report: Advanced magnetic resonance imaging findings in two cases of anaplastic papillary glioneuronal tumor: one case with glioblastoma-like progression.
Protein Kinase C-alpha Gene Fusions in Dendritic Cell Neurofibroma: Distinction From Conventional Neurofibroma.
📚 EuropePMC75 artigos no totalmostrando 46
Papillary glioneuronal tumor presenting with recurrent epileptic seizures in a 6-year-old boy: A case report and comprehensive literature review.
Surgical neurology internationalPediatric low-grade epilepsy-associated tumors (LEATS): neuroimaging review and genetics update.
Pediatric radiologyGlioneuronal and Neuronal Tumors in Adults: WHO 2021 Imaging and Molecular Updates.
AJNR. American journal of neuroradiologySLC44A1::PRKCA fusion-positive glioneuronal tumor without histological and epigenetic features of papillary glioneuronal tumor.
Journal of neuropathology and experimental neurologyCase Report: Advanced magnetic resonance imaging findings in two cases of anaplastic papillary glioneuronal tumor: one case with glioblastoma-like progression.
Frontiers in oncologyProtein Kinase C-alpha Gene Fusions in Dendritic Cell Neurofibroma: Distinction From Conventional Neurofibroma.
The American journal of surgical pathologyPapillary Glioneuronal Tumor Located in the Subcortical White Matter With a Purely Solid Pattern: A Case Report.
CureusBreaking new ground: can artificial intelligence and machine learning transform papillary glioneuronal tumor diagnosis?
Neurosurgical reviewLow-grade glioma of the temporal lobe and tumor-related epilepsy in children.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryImaging manifestations of papillary glioneuronal tumors.
Neurosurgical reviewPapillary glioneuronal tumor: A rare case with recent updates as per 2021 CNS WHO 5 th classification.
Indian journal of pathology & microbiologyAdult cerebral high-grade glioneuronal tumor with perivascular or pseudopapillary growth co-existing with low-grade tumor: a case report.
International journal of clinical and experimental pathologyIntraventricular papillary glioneuronal tumor with high proliferation index and CD117 positivity: Report of an atypical case and review of literature.
Journal of cancer research and therapeuticsPapillary Glioneuronal Tumor Masquerading as Malignant Brain Tumors: A Case Report.
Yonago acta medicaPapillary glioneuronal tumor presenting with low-pressure hydrocephalus from intraventricular spread: Case Report.
Radiology case reportsPapillary glioneuronal tumor of the left parieto-occipital lobe.
Asian journal of surgeryPapillary glioneuronal tumor growing slowly for 26 years: illustrative case.
Journal of neurosurgery. Case lessonsThe landscape of common genetic drivers and DNA methylation in low-grade (epilepsy-associated) neuroepithelial tumors: A review.
Neuropathology : official journal of the Japanese Society of NeuropathologyUncommon Glioneuronal Tumors: A Radiologic and Pathologic Synopsis.
AJNR. American journal of neuroradiologyChallenges in the Intraoperative Consultation of Low-Grade Epilepsy-Associated Neuroepithelial Tumors by Cytomorphology in Squash Preparations.
Acta cytologicaPapillary glioneuronal tumor: a case report of the cerebral aqueduct and review of literature.
British journal of neurosurgeryPapillary Glioneuronal Tumor With a Novel GPR37L1-PRKCA Fusion.
Journal of neuropathology and experimental neurologySellar and parasellar lesions: multidisciplinary management.
Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-faccialePapillary glioneuronal tumors: Distinctive cytological characteristics and cyto-histologic correlation.
Annals of diagnostic pathologyAcute presentation of papillary glioneuronal tumor due to intra-tumoral hemorrhage in a toddler: an odd presentation of a rare pathology.
British journal of neurosurgeryA Case of Suprasellar Papillary Glioneuronal Tumor Mimicking Craniopharyngioma.
NMC case report journalGlioneuronal Tumor With Features of Ganglioglioma and Neurocytoma Arising in the Fourth Ventricle: A Report of 2 Unusual Cases and a Review of Infratentorial Gangliogliomas.
Journal of neuropathology and experimental neurologyRecurrent Papillary Glioneuronal Tumor.
World neurosurgeryPapillary glioneuronal tumor (PGNT) exhibits a characteristic methylation profile and fusions involving PRKCA.
Acta neuropathologicaTectal region papillary neuroglial tumour: a case report.
British journal of neurosurgery[BRAF V600E mutation and clinicopathologic characteristics in 250 cases of brain tumors associated with epilepsy].
Zhonghua bing li xue za zhi = Chinese journal of pathologyMagnetic resonance imaging findings of mixed neuronal-glial tumors with pathologic correlation: a review.
Acta neurologica BelgicaEnlargement of papillary glioneuronal tumor in an adult after a follow-up period of 10 years: a case report.
Journal of surgical case reportsPapillary glioneuronal tumor. A case report.
NeurocirugiaEWSR1-PATZ1 gene fusion may define a new glioneuronal tumor entity.
Brain pathology (Zurich, Switzerland)Papillary Glioneuronal Tumor with an Excessive Angiomatous Component in an Elderly Man.
Chinese medical journalCytopathologic features of papillary glioneuronal tumor.
Diagnostic cytopathologyPapillary glioneuronal tumors: A radiopathologic correlation.
European journal of radiologySurgical Resection and Cellular Proliferation Index Predict Prognosis for Patients with Papillary Glioneuronal Tumor: Systematic Review and Pooled Analysis.
World neurosurgeryGlioneuronal tumors of cerebral hemisphere in children: correlation of surgical resection with seizure outcomes and tumor recurrences.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryClinicopathologic and neuroradiologic studies of papillary glioneuronal tumors.
Acta neurochirurgicaTreatment and Outcome in 65 Children with Optic Pathway Gliomas.
World neurosurgeryPapillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion.
Acta neuropathologica communicationsSLC44A1-PRKCA fusion in papillary and rosette-forming glioneuronal tumors.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaRecurrent papillary glioneuronal tumor presenting as a ganglioglioma with the BRAF V600E mutation.
Neuropathology : official journal of the Japanese Society of NeuropathologyPapillary glioneuronal tumor: case report and review of literature.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Papillary glioneuronal tumor presenting with recurrent epileptic seizures in a 6-year-old boy: A case report and comprehensive literature review.
- Pediatric low-grade epilepsy-associated tumors (LEATS): neuroimaging review and genetics update.
- SLC44A1::PRKCA fusion-positive glioneuronal tumor without histological and epigenetic features of papillary glioneuronal tumor.
- Glioneuronal and Neuronal Tumors in Adults: WHO 2021 Imaging and Molecular Updates.
- Case Report: Advanced magnetic resonance imaging findings in two cases of anaplastic papillary glioneuronal tumor: one case with glioblastoma-like progression.
- Protein Kinase C-alpha Gene Fusions in Dendritic Cell Neurofibroma: Distinction From Conventional Neurofibroma.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:251962(Orphanet)
- MONDO:0016735(MONDO)
- GARD:20730(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q1440338(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
