Raras
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Xantoastrocitoma pleomórfico
ORPHA:251607CID-10 · C71.9CID-11 · 2A00.0YDOENÇA RARA

Astrocitoma são tumores (neoplasia) do sistema nervoso central (SNC) originados de um astrócito, uma célula em forma de estrela que sustenta os neurônios. É o tipo de glioma mais comum e podem ser benignos ou malignos. Quanto menor o grau, mais tempo de sobrevida, que pode ultrapassar 10 anos ou serem menor a 1 ano. Afetam 5 em cada 100.000 pessoas.

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Introdução

O que você precisa saber de cara

📋

Tumor cerebral raro, de crescimento lento, originado de células gliais. Caracteriza-se por células com núcleos pleomórficos e citoplasma xantomatoso, frequentemente associado a epilepsia.

Pesquisas ativas
6 ensaios
17 total registrados no ClinicalTrials.gov
Publicações científicas
680 artigos
Último publicado: 2026 Apr 13

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.01
Europe
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: C71.9
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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

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico680PubMed
Últimos 10 anos200publicações
Pico202239 papers
Linha do tempo
2026Hoje · 2026🧪 1994Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

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Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
2Fase 25
1Fase 13
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 13 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Xantoastrocitoma pleomórfico

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Selecione um estado ou use sua localização para ver resultados.

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

🟢 Recrutando agora

3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

17 ensaios clínicos encontrados, 6 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
354 papers (10 anos)
#1

Multi-omic landscape of human gliomas from diagnosis to treatment and recurrence.

Cancer cell2026 Jan 12

Gliomas are among the most lethal cancers, with limited treatment options. To uncover hallmarks of therapeutic escape and tumor microenvironment (TME) landscape, we applied spatial proteomics, transcriptomics, and glycomics to 670 lesions from 310 adult and pediatric patients. Single-cell analysis shows high B7H3+ tumor cell prevalence in glioblastoma (GBM) and pleomorphic xanthoastrocytoma, while most gliomas, including pediatric cases, express targetable tumor antigens in less than 50% of tumor cells, potentially explaining trial failures. Paired samples of isocitrate dehydrogenase (IDH)-mutant gliomas reveal recurrence driven by tumor-immune spatial reorganization, shifting from T cell and vasculature-associated myeloid cell-enriched niches to microglia and CD206+ macrophage-dominated tumors. Multi-omic integration identified N-glycosylation as the best classifier of grade, while the immune transcriptome best predicted GBM survival. Provided as a community resource, this study offers a framework for glioma targeting, classification, outcome prediction, and a baseline of TME composition across all stages.

#2

Identification of BRAF V600E Mutation in Cerebrospinal Fluid Aids in Diagnosing Leptomeningeal Carcinomatosis Arising From Pleomorphic Xanthoastrocytoma: A Case Report.

Cancer reports (Hoboken, N.J.)2026 Mar

Pleomorphic xanthoastrocytomas (PXAs) are rare primary central nervous system (CNS) tumors that appear heterogeneous on imaging and histology and typically cause headaches or seizures on initial presentation. Alongside high rates of favorable prognosis after surgical excision exist similarly high rates of recurrence. Leptomeningeal spread on recurrence is even rarer and more challenging to diagnose. We describe a case of a 40-year-old man with a history of surgically resected PXA presenting 12 years later with persistent headaches and lower back pain. Imaging studies revealed arachnoiditis, and a subsequent brain biopsy was nondiagnostic. Serial CSF studies only revealed the presence of atypical cells too few to further characterize via standard histology studies, with rare small lymphocytes and monocytoid cells. Submitting these cells for next-generation sequencing ultimately revealed a BRAF V600E mutation typically found in PXAs, thereby confirming the diagnosis of leptomeningeal recurrence and revealing a therapeutic target. This case highlights the utility of next-generation sequencing as a means of non-invasively diagnosing leptomeningeal disease in recurrent PXA and potentially in other cancer types as well.

#3

BRAFV600E-mutated central nervous system tumors benefit from treatment with dabrafenib plus trametinib: Results from the Drug Rediscovery Protocol.

European journal of cancer (Oxford, England : 1990)2026 Mar 11

Dual MAPK pathway inhibition with dabrafenib and trametinib has demonstrated significant activity across several BRAFV600E-mutated tumor types. The aim of this study was to evaluate the efficacy and safety of dabrafenib plus trametinib in patients with BRAFV600E-mutated progressive or recurrent tumors of the central nervous system (CNS). Adult patients with BRAFV600E-mutated CNS-tumors, including pilocytic astrocytoma, pleomorphic xanthoastrocytoma, and glioblastoma, progressive on their last treatment line, were treated in the Drug Rediscovery Protocol (2023-509152-33-00) with dabrafenib 150 mg twice daily plus trametinib 2 mg once daily, until disease progression or intolerable toxicity. The primary endpoints were clinical benefit (CB: confirmed complete or partial response [PR] or stable disease [SD] ≥ 16 weeks) and safety. Between January 2019 and May 2024, 30 patients started treatment, of whom 25 were evaluable for response after completing at least one full treatment cycle. CB was observed in 19 patients, including 11 with confirmed PR and eight with SD for ≥ 16 weeks, resulting in a CB-rate of 76% (95% CI, 54.9%-90.6%) and an objective response rate of 44% (95% CI, 24.4%-65.1%). After a median follow-up of 40.2 months, the median duration of response was 27.8 months (95% CI, 23.6 months-not reached). The median progression-free and overall survival were 18.1 months (95% CI, 8.4 months-not reached) and 32.3 months (95% CI, 22.0 months-not reached), respectively. No unexpected toxicities were observed. Dabrafenib plus trametinib is highly effective in patients with recurrent or progressive BRAFV600E-mutated CNS-tumors, representing a valuable therapeutic option for these vulnerable patients.

#4

BRAF-mutant high-grade glioma with pleomorphic and pseudopapillary features (HPAP): A PLNTY mimic demonstrating tumor progression during longitudinal follow-up.

Neuro-oncology advances2026

High-grade glioma with pleomorphic and pseudopapillary features (HPAP) is a recently recognized glioma subtype defined by DNA methylation profiling. While it exhibits overlapping histological features with various CNS tumors, such as polymorphous low-grade neuroepithelial tumor of the young (PLNTY) and pleomorphic xanthoastrocytoma, its molecular pathogenesis and clinical behavior remain incompletely understood. We report a rare case of HPAP with BRAF p.V600E mutation and PLNTY-like histological features that showed rapid tumor progression during long-term follow-up. A 47-year-old woman harbored a lesion that remained asymptomatic and slow-growing for over 20 years, but later exhibited contrast enhancement and rapid expansion. Partial tumor resection was performed with hippocampal preservation based on intraoperative genetic testing and functional considerations. No regrowth of the residual hippocampal lesion was observed at 12 months postoperatively. Histologically, the tumor showed oligodendroglioma-like morphology, strong CD34 immunopositivity, consistent with PLNTY-like features, but indicated a high proliferative index. Molecular analysis revealed co-occurring BRAF p.V600E and TERT promoter (pTERT, c.-124C>T) mutations, with a lower variant allele frequency for the pTERT mutation. This disparity, confirmed by droplet digital PCR, suggests that the BRAF p.V600E mutation was an early, clonal event, whereas the pTERT mutation likely arose later in a subclonal population. DNA methylation profiling classified the tumor as HPAP with high confidence (NCI-Bethesda score: 0.969), and uniform manifold approximation and projection showed clustering within HPAP reference cases. This case represents a rare example of BRAF p.V600E-mutant HPAP with PLNTY-like features in which a subclonal pTERT mutation likely emerged during tumor evolution, contributing to rapid tumor progression. The combination of a prolonged indolent phase followed by rapid growth, along with the intratumoral genetic heterogeneity observed, provides novel insights into the biological diversity and evolutionary dynamics of HPAP.

#5

Pediatric low-grade epilepsy-associated tumors (LEATS): neuroimaging review and genetics update.

Pediatric radiology2026 Jan 27

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).

Publicações recentes

Ver todas no PubMed

📚 EuropePMC446 artigos no totalmostrando 196

2026

Identification of BRAF V600E Mutation in Cerebrospinal Fluid Aids in Diagnosing Leptomeningeal Carcinomatosis Arising From Pleomorphic Xanthoastrocytoma: A Case Report.

Cancer reports (Hoboken, N.J.)
2026

BRAFV600E-mutated central nervous system tumors benefit from treatment with dabrafenib plus trametinib: Results from the Drug Rediscovery Protocol.

European journal of cancer (Oxford, England : 1990)
2026

BRAF-mutant high-grade glioma with pleomorphic and pseudopapillary features (HPAP): A PLNTY mimic demonstrating tumor progression during longitudinal follow-up.

Neuro-oncology advances
2026

Pediatric low-grade epilepsy-associated tumors (LEATS): neuroimaging review and genetics update.

Pediatric radiology
2026

Clinicopathological, Immunohistochemical, and Molecular Genetic Study on Pleomorphic Xanthoastrocytoma and Epithelioid Glioblastoma.

Current cancer drug targets
2025

Dabrafenib in pediatric patients with BRAF V600 mutation-positive high-grade glioma: Results from a phase 1/2a single-arm study.

Neuro-oncology practice
2025

Comparative molecular analysis of primary and recurrent pleomorphic xanthoastrocytoma with BRAF mutation treated with combination therapy with dabrafenib and trametinib: a case report and literature review.

International cancer conference journal
2026

Multi-omic landscape of human gliomas from diagnosis to treatment and recurrence.

Cancer cell
2025

OCD Symptoms and Capgras Syndrome in a 13-Year-Old Girl Following Right-Sided Brain Surgery.

Case reports in psychiatry
2025

Successful response in advanced leptomeningeal disease from pleomorphic xanthoastrocytoma with BRAF/MEK inhibitors: a case report.

Frontiers in oncology
2026

An atypical presentation of a pleomorphic xanthoastrocytoma in a 66-year-old woman, a case report.

Radiology case reports
2025

Intraventricular Trigone Pleomorphic Xanthoastrocytoma: A Rare Presentation with Favorable Prognosis in a Young Adult-A Case Report.

Asian journal of neurosurgery
2025

Pleomorphic xanthoastrocytoma with anaplastic features.

Brain circulation
2025

Challenging CDKN2A assessment in BRAF-altered gliomas: lessons from a pleomorphic xanthoastrocytoma-enriched cohort.

Acta neuropathologica communications
2025

Metastatic Low-Grade Glioma Successfully Treated in a Pediatric Patient With BRAF A598_T599insI Mutation.

Cancer reports (Hoboken, N.J.)
2025

Molecular, histologic, and clinical characterization of methylation class pleomorphic xanthoastrocytoma: An analysis of 469 tumors.

Neuro-oncology advances
2025

Seizure characteristics and outcomes in patients with pleomorphic xanthoastrocytoma.

Neuro-oncology advances
2025

MTAP and p16 as immunohistochemical surrogates of CDKN2A/B homozygous deletion in central nervous system tumors: A multicentre Italian experience.

Annals of diagnostic pathology
2025

Pleomorphic xanthoastrocytoma with anaplasia and BEND5-NTRK2 fusion in a young adult with a history of cranial radiation for childhood rhabdomyosarcoma.

Neuro-oncology advances
2025

Pleomorphic xanthoastrocytoma with multiple recurrences and continuous malignant progression to bone metastasis: a case report.

Frontiers in surgery
2025

Thalamic pleomorphic xanthoastrocytoma central nervous system World Health Organization grade 3.

Radiology case reports
2025

MRI features of pleomorphic xanthoastrocytoma defined by DNA methylation profile.

Revue neurologique
2025

PXA-like tumors: prognostic implications.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Shift of DNA methylation class may occur on recurrence of pleomorphic xanthoastrocytoma.

Journal of neuropathology and experimental neurology
2025

Glioneuronal tumors PATZ1-fused: clinico-molecular and DNA methylation signatures for a variety of morphological and radiological profiles.

Acta neuropathologica communications
2025

Papillary Glioneuronal Tumor Located in the Subcortical White Matter With a Purely Solid Pattern: A Case Report.

Cureus
2025

Anaplastic pleomorphic xanthoastrocytoma with leptomeningeal dissemination presenting with cranial neuropathy in an adult patient: illustrative case.

Journal of neurosurgery. Case lessons
2025

Intraventricular WHO Grade 3 Pleomorphic Xanthoastrocytoma: A Rare Case Report and Review of the Literature.

Case reports in pathology
2025

Case Report: SMARCB1-deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated with poor prognosis.

Frontiers in oncology
2025

Nontumoral Amygdalar Enlargement in Tumoral Epilepsy.

World neurosurgery
2025

Pleomorphic xanthoastrocytoma and treatment of epilepsy: a case report.

Translational pediatrics
2025

Clinical outcomes for pleomorphic xanthoastrocytoma patients.

Neuro-oncology practice
2025

Proton Beam Therapy for a Rare Anaplastic Pleomorphic Xanthoastrocytoma: Case Report and Literature Review.

International journal of particle therapy
2024

Free-hand Frameless Pinless Electromagnetic-Navigation (AXIEM™)-Guided Brain Lesion Biopsies: An Institution Based Experience from a Low-Middle-Income Country.

Pakistan journal of medical sciences
2024

Drug-resistant BRAF V600E-mutant recurrent pleomorphic xanthoastrocytoma, CNS WHO Grade 3 successfully resolved with incidental discontinuation of combined BRAF and MEK inhibitor therapy.

Surgical neurology international
2024

Intracranial pleomorphic liposarcoma misclassified as a pleomorphic xanthoastrocytoma by a DNA methylation classifier: illustrative case.

Journal of neurosurgery. Case lessons
2025

Endoscopic transorbital approach for resection of mediobasal temporal lesions using an optic radiation-sparing strategy.

Journal of neurosurgery
2024

BRAF/MEK inhibitors use for pediatric gliomas; real world experience from a resource-limited country.

Frontiers in oncology
2024

Drug-resistant schizophrenia-like psychosis associated with temporal non-anaplastic pleomorphic xanthoastrocytoma: unusual revealing symptom of a rare pathology.

Annals of medicine and surgery (2012)
2024

"Recurrent Pleomorphic Xanthoastrocytoma Presenting with Diffuse Leptomeningeal Spread".

The Neurohospitalist
2024

No drug holidays in BRAFV600E glioma patients: An argument for dose reduction of targeted therapies.

Neuro-oncology practice
2025

Epithelioid angiosarcoma arising from pleomorphic xanthoastrocytoma, CNS WHO grade 3.

Journal of neuropathology and experimental neurology
2024

Extra-axial primary meningeal pleomorphic xanthoastrocytoma: a case report.

The Pan African medical journal
2024

[Clinicopathological and molecular characteristics of pediatric gliomas: analysis of 111 cases].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2024

Extra-temporal pediatric low-grade gliomas and epilepsy.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Journey through tumorverse: Creating models to decode PXA mysteries.

Molecular therapy. Oncology
2024

Intra-axial Cortical-Based Tumour Presented as Homonymous Hemianopia in a Young Patient: A Diagnostic Dilemma.

Cureus
2024

Cell-in-cell phenomena of intracellular neutrophils in a recurrent pleomorphic xanthoastrocytoma.

Free neuropathology
2024

Pleomorphic xanthoastrocytoma with NTRK fusion presenting as spontaneous intracranial hemorrhage-case report and literature review.

Frontiers in pediatrics
2024

Spinal Cord Astroblastoma With EWSR1-BEND2 Fusion in Female Patients : A Report of Four Cases From China and a Comprehensive Literature Review.

The American journal of surgical pathology
2024

Comparing loss of p16 and MTAP expression in detecting CDKN2A homozygous deletion in pleomorphic xanthoastrocytoma.

Journal of neuropathology and experimental neurology
2024

Successful treatment of pediatric patients with high-grade gliomas featuring leptomeningeal metastases by targeting BRAF V600E mutations with dabrafenib plus trametinib: two illustrative cases.

International cancer conference journal
2025

Pleomorphic Xanthoastrocytoma: Multi-Institutional Evaluation of Stereotactic Radiosurgery.

Neurosurgery
2024

Germline Co-deletion of CDKN2A and CDKN2B Genes in Pleomorphic Xanthoastrocytoma: Case Report.

In vivo (Athens, Greece)
2024

Immunotherapy for pediatric low-grade gliomas.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Low-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 Neurosurgery
2024

BRAF V600E in a preclinical model of pleomorphic Xanthoastrocytoma: Analysis of the tumor microenvironment and immune cell infiltration dynamics in vivo.

Molecular therapy. Oncology
2024

Case report: complete long-lasting response to multimodal third line treatment with neurosurgical resection, carmustine wafer implantation and dabrafenib plus trametinib in a BRAFV600E mutated high-grade glioma.

Frontiers in oncology
2024

Pediatric high grade gliomas: A comprehensive histopathological, immunohistochemical and molecular integrated approach in routine practice.

Pathology, research and practice
2024

Detection of tumor-derived cell-free DNA in cerebrospinal fluid using a clinically validated targeted sequencing panel for pediatric brain tumors.

Journal of neuro-oncology
2024

Ganglioglioma with anaplastic/high-grade transformation: Histopathologic, molecular, and epigenetic characterization of 3 cases.

Journal of neuropathology and experimental neurology
2024

Pediatric-Like Brain Tumors in Adults.

Advances and technical standards in neurosurgery
2024

PDP type brain tumor in association with multiple endocrine neoplasia type 1.

Heliyon
2024

Exploring prognostic factors and treatment strategies for long-term survival in pleomorphic xanthoastrocytoma patients.

Scientific reports
2024

Intraventricular Pleomorphic Xanthoastrocytoma: A Case Report and Systemic Review.

Cureus
2024

Clinical and molecular study of radiation-induced gliomas.

Scientific reports
2024

Rare AGK-BRAF gene fusion in an adolescent with supratentorial pleomorphic xanthoastrocytoma.

BMJ case reports
2024

Recurrent Pleomorphic Xanthoastrocytoma Presenting With Diffuse Leptomeningeal Spread.

The Neurohospitalist
2024

Giant cell glioblastoma with lipogenic differentiation in a patient with neurofibromatosis type 1: A case report.

Neuropathology : official journal of the Japanese Society of Neuropathology
2024

Analysis of Histomorphologic/Molecular Association and Immune Checkpoint Regulators in Epithelioid Glioblastoma and Pleomorphic Xanthoastrocytoma: Are These Tumors Potential Candidates for Immune Checkpoint Blockade?

Applied immunohistochemistry &amp; molecular morphology : AIMM
2023

Reference on copy number variations in pleomorphic xanthoastrocytoma: Implications for diagnostic approach.

Free neuropathology
2023

Diagnostic Insights into Pediatric Pleomorphic Xanthoastrocytoma through DNA Methylation Class and Pathological Diagnosis Analysis.

Diagnostics (Basel, Switzerland)
2023

A pleomorphic xanthoastrocytoma highlighting the morphological heterogeneity of this uncommon tumor.

Journal of neuropathology and experimental neurology
2023

Freiburg Neuropathology Case Conference : Headache, Mental Confusion and Mild Hemiparesis in a 68-year-old Patient.

Clinical neuroradiology
2023

Li-Fraumeni Syndrome, A Rarity Among Rarities: A Case Report and Review of Literature.

Cureus
2023

A rare case of cerebellar anaplastic pleomorphic xanthoastrocytoma.

Journal of cancer research and therapeutics
2024

The Significance of BRAF Mutation in the Epithelioid Glioblastoma Subtype: A Systematic Literature Review and a Case Report with a Unique Intraventricular Topography.

International journal of surgical pathology
2023

[Circumscribed Astrocytic Gliomas].

No shinkei geka. Neurological surgery
2024

Nomograms Based on MRI Radiomics for Differential Diagnosis and Predicting BRAFV600E Expression in Pleomorphic Xanthoastrocytoma and Ganglioglioma.

Academic radiology
2023

A Rare Case of BRAF-mutated Metastatic Pleomorphic Xanthoastrocytoma Patient who Developed Radiodermatitis After Receiving Anti-BRAF Treatment.

Journal of pediatric hematology/oncology
2024

Cytological features of diffuse and circumscribed gliomas.

Cytopathology : official journal of the British Society for Clinical Cytology
2023

Anti-N-Methyl-D-Aspartate Receptor Encephalitis With Diffuse Demyelinating Plaques: A Case Report of an Atypical Presentation.

Cureus
2023

Perisellar Tumor Coexisting with Unruptured Cerebral Aneurysm: Single-Stage or Staged Surgery?

World neurosurgery
2023

A "masked" pleomorphic xanthoastrocytoma.

Pathology, research and practice
2023

Freiburg Neuropathology Case Conference : Recurrent Speech Arrest, Neologistic Jargon Aphasia, and Impaired Memory Function in a 39-year-old Patient.

Clinical neuroradiology
2023

Clinical features and surgical outcomes of high grade pleomorphic xanthoastrocytomas: a single-center experience with a systematic review.

Frontiers in oncology
2024

MRI characteristics predict BRAF V600E status in gangliogliomas and pleomorphic xanthoastrocytomas and provide survival prognostication.

Acta radiologica (Stockholm, Sweden : 1987)
2023

Differentiating Cerebral Toxoplasmosis and Tumor Recurrence by Thallium-201 Single-Photon Emission Computerized Tomography in a 28-Year-Old Female with Astrocytoma.

Case reports in oncology
2023

Establishment and characterization of patient-derived xenograft of a rare pediatric anaplastic pleomorphic xanthoastrocytoma (PXA) bearing a CDC42SE2-BRAF fusion.

Scientific reports
2023

Diffusely Infiltrating Gliomas With Poor Prognosis, TERT Promotor Mutations, and Histological Anaplastic Pleomorphic Xanthoastrocytoma-Like Appearance Classify as Mesenchymal Type of Glioblastoma, IDH-wildtype by Methylation Analysis.

Neurosurgery practice
2023

Clinical outcome following surgical resection and radiotherapy in adult patients with pleomorphic xanthoastrocytoma as defined by DNA methylation profiling.

Neuro-oncology practice
2023

MEN1 and the brain: Don't just look only at the pituitary gland. A case report of anaplastic pleomorphic xanthoastrocytoma in a MEN1 patient, and systematic review.

Annales d'endocrinologie
2023

Detection of human neurotropic JCPyV DNA sequence in pediatric anaplastic xanthoastrocytoma.

Journal of neurovirology
2023

A Rare Case Report of Intraventricular Anaplastic Pleomorphic Xanthoastrocytoma.

Cureus
2023

Recombinant polio-rhinovirus immunotherapy for recurrent paediatric high-grade glioma: a phase 1b trial.

The Lancet. Child &amp; adolescent health
2023

Pleomorphic xanthoastrocytoma in the brainstem with BRAF V600E mutation: A case report.

Asian journal of surgery
2023

A Recurrent Pleomorphic Xanthoastrocytoma in the Cerebellum in a Young Adult: A Case Report and Review of the Literature.

Case reports in neurology
2023

Clinical, Morphological, and Molecular Study on Grade 2 and 3 Pleomorphic Xanthoastrocytoma.

Current oncology (Toronto, Ont.)
2023

Not All Monstrous Cells Indicate Glioblastoma: A Neuropathological Case Report of Pleomorphic Xanthoastrocytoma Misdiagnoses As Giant Cell Glioblastoma.

Cureus
2023

Clinical outcomes for pleomorphic xanthoastrocytoma patients: an institutional experience.

Research square
2022

Implications of BRAF V600E mutation in gliomas: Molecular considerations, prognostic value and treatment evolution.

Frontiers in oncology
2022

Upfront BRAF/MEK inhibitors for treatment of high-grade glioma: A case report and review of the literature.

Neuro-oncology advances
2023

Correlation of MTAP immunohistochemical deficiency with CDKN2A homozygous deletion and clinicopathological features in pleomorphic xanthoastrocytoma.

Brain tumor pathology
2022

Fluorescein sodium in the surgical treatment of pleomorphic xanthoastrocytomas: Results from a retrospective study.

Frontiers in oncology
2022

BRAF/MEK Dual Inhibitors Therapy in Progressive and Anaplastic Pleomorphic Xanthoastrocytoma: Case Series and Literature Review.

Journal of the National Comprehensive Cancer Network : JNCCN
2022

Intravenous Fluorescein Sodium for Resection of Pleomorphic Xanthoastrocytoma: 2-Dimensional Operative Video.

Operative neurosurgery (Hagerstown, Md.)
2022

5-ALA fluorescence-guided resection of a recurrent anaplastic pleomorphic xanthoastrocytoma: illustrative case.

Journal of neurosurgery. Case lessons
2022

Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas.

Acta neuropathologica communications
2022

Lateral ventricle pleomorphic xanthoastrocytoma concurrent with Dandy-Walker complex: A case report.

Medicine
2022

A 7-year-old boy with recurrent cyanosis and tachypnea: A case report.

World journal of clinical cases
2022

MR Imaging Characteristics and ADC Histogram Metrics for Differentiating Molecular Subgroups of Pediatric Low-Grade Gliomas.

AJNR. American journal of neuroradiology
2022

Anaplastic ganglioglioma-A diagnosis comprising several distinct tumour types.

Neuropathology and applied neurobiology
2022

Pleomorphic Xanthoastrocytoma: a single institution retrospective analysis and a review of the literature.

La Radiologia medica
2022

pRB immunostaining in the differential diagnosis between pleomorphic xanthoastrocytoma and glioblastoma with giant cells.

Histopathology
2022

Pleomorphic xanthoastrocytoma, anaplastic pleomorphic xanthoastrocytoma, and epithelioid glioblastoma: Case series with clinical characteristics, molecular features and progression relationship.

Clinical neurology and neurosurgery
2023

5-ALA fluorescence-guided resection of pediatric low-grade glioma using the ORBEYE 3D digital exoscope: a technical report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy.

Orphanet journal of rare diseases
2022

Targeted Next-Generation Sequencing Reveals Divergent Clonal Evolution in Components of Composite Pleomorphic Xanthoastrocytoma-Ganglioglioma.

Journal of neuropathology and experimental neurology
2022

Long Non-coding RNA and mRNA Co-expression Network Reveals Novel Players in Pleomorphic Xanthoastrocytoma.

Molecular neurobiology
2022

Pleomorphic xanthoastrocytoma in the multiverse of epigenomics: is it time to recognize the variants?

Acta neuropathologica communications
2022

Gliosarcoma with unusual glial components: Two case reports.

Neuropathology : official journal of the Japanese Society of Neuropathology
2022

Impact of Grade on Survival in Pleomorphic Xanthoastrocytoma and Low Prevalence of BRAF V600E Mutation.

World neurosurgery
2022

A case report of a novel NTRK gene fusion in pleomorphic xanthoastrocytoma.

Clinical neuropathology
2022

Genetic Alteration Analysis of IDH1, IDH2, CDKN2A, MYB and MYBL1 in Pediatric Low-Grade Gliomas.

Frontiers in surgery
2022

Circumscribed astrocytic gliomas: Contribution of molecular analyses to histopathology diagnosis in the WHO CNS5 classification.

Indian journal of pathology &amp; microbiology
2022

CXCL14 Promotes a Robust Brain Tumor-Associated Immune Response in Glioma.

Clinical cancer research : an official journal of the American Association for Cancer Research
2022

Anaplastic Pleomorphic Xanthoastrocytoma: A Rare Variant of Astrocytoma.

Cureus
2022

Cytologic and histologic features of pigmented pleomorphic xanthoastrocytoma: A case report and literature review.

Diagnostic cytopathology
2022

[Anaplastic pleomorphic xanthoastrocytoma - single-center analysis of 42 patients].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2022

Gene expression based profiling of pleomorphic xanthoastrocytoma highlights two prognostic subgroups.

American journal of translational research
2022

Anaplastic pleomorphic xanthoastrocytoma with epithelioid morphology misdiagnosed and treated as melanoma.

Neuro-oncology advances
2022

Molecular landscape of IDH-wild-type, H3-wild-type glioblastomas of adolescents and young adults.

Neuropathology and applied neurobiology
2022

High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13.

Acta neuropathologica
2022

The evolution of pleomorphic xanthoastrocytoma: from genesis to molecular alterations and mimics.

Laboratory investigation; a journal of technical methods and pathology
2022

Pleomorphic xanthoastrocytoma is a heterogeneous entity with pTERT mutations prognosticating shorter survival.

Acta neuropathologica communications
2021

Autobiographical Case Report of Experiences With Pleomorphic Xanthoastrocytoma.

Cureus
2021

Rapid Diffuse Leptomeningeal Dissemination of an Anaplastic Pleomorphic Xanthoastrocytoma in an Adult Patient.

Cureus
2022

Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory investigation; a journal of technical methods and pathology
2021

An atypical teratoid/rhabdoid tumor (AT/RT) with molecular features of pleomorphic xanthoastrocytoma (PXA) in a 62-year-old patient.

Free neuropathology
2022

Isocitrate Dehydrogenase Wild-type Glial Tumors, Including Glioblastoma.

Hematology/oncology clinics of North America
2021

Large Parenchymal Perianeurysmal Cyst: A Case Report.

Journal of neurosciences in rural practice
2021

Identification of BRAF p. V600E-Mutant and Wild-Type by MR Imaging in Pleomorphic Xanthoastrocytoma and Anaplastic Pleomorphic Xanthoastrocytoma.

AJNR. American journal of neuroradiology
2022

Prevalence of BRAFV600 in glioma and use of BRAF Inhibitors in patients with BRAFV600 mutation-positive glioma: systematic review.

Neuro-oncology
2021

Complex grade III astrocytoma with granular cells and PXA features in a patient with tuberous sclerosis complex (Bourneville-Pringle syndrome) - case report and review of literature.

Polish journal of pathology : official journal of the Polish Society of Pathologists
2022

Clinical-pathological study of 28 glial and mixed neuronal-glial tumors diagnosed within the first year of life.

Clinical neuropathology
2021

Malignant transformation of pleomorphic xanthoastrocytoma in pregnant patient: Clinical case and ethical dilemma.

Surgical neurology international
2021

Durable Progression-Free Survival With the Use of BRAF and MEK Inhibitors in Four Cases With BRAF V600E-Mutated Gliomas.

Cancer control : journal of the Moffitt Cancer Center
2022

Cytopathological and histopathological features of cerebral granular cell astrocytoma: A case report.

Cytopathology : official journal of the British Society for Clinical Cytology
2021

Anaplastic pleomorphic xanthoastrocytoma misdiagnosed as cerebral sparganosis-identification of the "mirror image".

Quantitative imaging in medicine and surgery
2021

Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions.

Acta neuropathologica communications
2022

Integrated genotype-phenotype analysis of long-term epilepsy-associated ganglioglioma.

Brain pathology (Zurich, Switzerland)
2021

Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.

Life science alliance
2021

A pediatric cerebral tumor with MN1 alteration and pathological features mimicking carcinoma metastasis: may the terminology "high grade neuroepithelial tumor with MN1 alteration" still be relevant?

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

A Rare Case of a High-Grade Astroblastoma with 5-Year Follow-up.

Asian journal of neurosurgery
2021

Role of Adamts-1 in Pleomorphic Xanthoastrocytoma Tumor Cells Progression.

Turkish neurosurgery
2021

Pleomorphic Xanthoastrocytoma of the Frontal Lobe in a Child: A Rare Entity.

Cureus
2021

Cyclin D1 expression in ganglioglioma, pleomorphic xanthoastrocytoma and pilocytic astrocytoma.

Experimental and molecular pathology
2021

Differences in treatment patterns and overall survival between grade II and anaplastic pleomorphic xanthoastrocytomas.

Journal of neuro-oncology
2021

Clinical Features and Surgical Results of Pediatric Pleomorphic Xanthoastrocytoma: Analysis of 17 Cases with a Literature Review.

World neurosurgery
2021

Pediatric Pleomorphic Xanthoastrocytoma: A National Database Inquiry on Current Treatment Approaches in the United States.

Cancer reports (Hoboken, N.J.)
2021

Diagnostic Utility of the Immunohistochemical Expression of Serine and Arginine Rich Splicing Factor 1 (SRSF1) in the Differential Diagnosis of Adult Gliomas.

Cancers
2021

Predictors of outcome in pleomorphic xanthoastrocytoma.

Neuro-oncology practice
2021

Clinical Characteristics of BRAF V600E Gene Mutation in Patients of Epilepsy-Associated Brain Tumor: a Meta-analysis.

Journal of molecular neuroscience : MN
2021

Atypical Teratoid/Rhabdoid Tumor (AT/RT) With Molecular Features of Pleomorphic Xanthoastrocytoma.

The American journal of surgical pathology
2021

[Epithelioid glioblastoma with BRAF V600E mutation: a clinicopathological and molecular study].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2021

Paediatric Gliomas: BRAF and Histone H3 as Biomarkers, Therapy and Perspective of Liquid Biopsies.

Cancers
2021

A case series of pediatric survivors of anaplastic pleomorphic xanthoastrocytoma.

Neuro-oncology advances
2020

Anaplastic Pleomorphic Xanthoastrocytoma: A Case Report and Literature Review.

International journal of general medicine
2020

Frameless radiosurgical third ventriculostomy: Technical report.

Surgical neurology international
2021

Conditional reprogramming culture conditions facilitate growth of lower-grade glioma models.

Neuro-oncology
2020

Intradural extramedullary pleomorphic xanthoastrocytoma: A case report.

Surgical neurology international
2021

Cerebellar pleomorphic xanthoastrocytoma in the setting of neurofibromatosis type-I: Does it portend a different prognosis? A case report and systematic review.

Clinical neurology and neurosurgery
2021

Cerebrospinal Fluid Spread in a Child with Pleomorphic Xanthoastrocytoma: Report with Cytopathologic Evidence.

World neurosurgery
2020

Molecular Features and Prognostic Factors of Pleomorphic Xanthoastrocytoma: A Collaborative Investigation of the Tohoku Brain Tumor Study Group.

Neurologia medico-chirurgica
2020

Cerebral pleomorphic xanthoastrocytoma mimicking inflammatory granuloma: Two case reports.

Medicine
2021

Phase 1 study of pomalidomide in children with recurrent, refractory, and progressive central nervous system tumors: A Pediatric Brain Tumor Consortium trial.

Pediatric blood &amp; cancer
2020

Concomitant Idiopathic Intracranial Hypertension, Normal Pressure Hydrocephalus, and Pleomorphic Xanthoastrocytoma: A Case Report and Review of the Literature.

Case reports in surgery
2020

Subtype and grade-dependent spatial heterogeneity of T-cell infiltration in pediatric glioma.

Journal for immunotherapy of cancer
2020

Acquired ATRX Loss and ALT Phenotype Through Tumor Recurrences in a Case of Pleomorphic Xanthoastrocytoma Suggest Their Possible Roles in Tumor Progression.

Journal of neuropathology and experimental neurology
2020

Clinical Relevance of BRAF V600E Mutation Status in Brain Tumors with a Focus on a Novel Management Algorithm.

Targeted oncology
2021

Biology and grading of pleomorphic xanthoastrocytoma-what have we learned about it?

Brain pathology (Zurich, Switzerland)
2020

Pleomorphic Xanthoastrocytoma of the Pineal Region in a Pediatric Patient With Neurofibromatosis Type 1.

Ochsner journal
2020

Association between adjuvant radiation therapy and overall survival in Pleomorphic Xanthoastrocytoma.

Clinical neurology and neurosurgery
2020

Exploring DNA Methylation for Prognosis and Analyzing the Tumor Microenvironment in Pleomorphic Xanthoastrocytoma.

Journal of neuropathology and experimental neurology
2020

An anaplastic pleomorphic xanthoastrocytoma with periventricular extension: An autopsy case report and review of the literature.

Neuropathology : official journal of the Japanese Society of Neuropathology
2021

Uveitis Induced by Biological Agents Used in Cancer Therapy.

Ocular immunology and inflammation
2020

Surgical treatment of low-grade brain tumors associated with epilepsy.

International review of neurobiology
2020

Spinal Pleomorphic Xanthoastrocytoma: Case Report and Literature Review.

World neurosurgery
2020

Pediatric Low-Grade Gliomas.

Cancers
2020

Cerebellar Pleomorphic Xanthoastrocytoma with BRAF V600E Mutation.

World neurosurgery
2020

Clinical impact of combined epigenetic and molecular analysis of pediatric low-grade gliomas.

Neuro-oncology
2020

TPM3-NTRK1 fusion in a pleomorphic xanthoastrocytoma presenting with haemorrhage in a child.

BMJ case reports
2020

Ultrastructural evidence for presenсe of gap junctions in rare case of pleomorphic xanthoastrocytoma.

Ultrastructural pathology
2020

Pleomorphic xanthoastrocytoma in the posterior fossa: a case report with advanced neuroimaging findings.

Clinical imaging
2020

The efficacy of DNA mismatch repair enzyme immunohistochemistry as a screening test for hypermutated gliomas.

Acta neuropathologica communications
2020

[Symptomatic epilepsy with Panayiotopoulos-like onset: the importance of neuroimaging].

Revista de neurologia
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Doenças relacionadas

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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.

  1. Multi-omic landscape of human gliomas from diagnosis to treatment and recurrence.
    Cancer cell· 2026· PMID 41386224mais citado
  2. Identification of BRAF V600E Mutation in Cerebrospinal Fluid Aids in Diagnosing Leptomeningeal Carcinomatosis Arising From Pleomorphic Xanthoastrocytoma: A Case Report.
    Cancer reports (Hoboken, N.J.)· 2026· PMID 41847840mais citado
  3. BRAFV600E-mutated central nervous system tumors benefit from treatment with dabrafenib plus trametinib: Results from the Drug Rediscovery Protocol.
    European journal of cancer (Oxford, England : 1990)· 2026· PMID 41830662mais citado
  4. BRAF-mutant high-grade glioma with pleomorphic and pseudopapillary features (HPAP): A PLNTY mimic demonstrating tumor progression during longitudinal follow-up.
    Neuro-oncology advances· 2026· PMID 41798681mais citado
  5. Pediatric low-grade epilepsy-associated tumors (LEATS): neuroimaging review and genetics update.
    Pediatric radiology· 2026· PMID 41591436mais citado
  6. CNS tumor type prevalence according to age group: an analysis of 21,000 cases confirmed by methylation profiling, with a focus on adolescents and young adults.
    Neuro Oncol· 2026· PMID 41978543recente
  7. Role of Surrogate Immunohistochemistry Markers in CNS Tumors in the Era of Molecular Diagnostics With Recent Updates.
    Adv Anat Pathol· 2026· PMID 41954087recente
  8. Genomic Alteration Patterns Across Histological Grades in BRAF p.V600E-Mutant Gliomas and Glioneuronal Tumors: An Analysis of 15 Cases.
    Pathol Int· 2026· PMID 41952308recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:251607(Orphanet)
  2. MONDO:0016690(MONDO)
  3. GARD:10631(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q627373(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

Xantoastrocitoma pleomórfico
Compêndio · Raras BR

Xantoastrocitoma pleomórfico

ORPHA:251607 · MONDO:0016690
Prevalência
<1 / 1 000 000
Herança
Not applicable
CID-10
C71.9 · Neoplasia maligna do encéfalo, não especificado
CID-11
Ensaios
6 ativos
Início
All ages
Prevalência
0.01 (Europe)
MedGen
UMLS
C0334586
Repurposing
2 candidatos
carmustineDNA alkylating agent|DNA inhibitor
temozolomideDNA alkylating agent
EuropePMC
Wikidata
Papers 10a
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