O ATRT (tumor rabdoide teratoide atípico) é um tumor rabdoide (TR) muito agressivo do sistema nervoso central (SNC), que afeta quase exclusivamente crianças.
Introdução
O que você precisa saber de cara
O ATRT (tumor rabdoide teratoide atípico) é um tumor rabdoide (TR) muito agressivo do sistema nervoso central (SNC), que afeta quase exclusivamente crianças.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 18 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures
Nucleus
Rhabdoid tumor predisposition syndrome 1
A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:15075294, PubMed:29374058, PubMed:30339381, PubMed:32459350). Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter ac
Nucleus
Rhabdoid tumor predisposition syndrome 2
A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
Variantes genéticas (ClinVar)
1,111 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 10 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
14 vias biológicas associadas aos genes desta condição.
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 teratoide, atípico
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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
🟢 Recrutando agora
11 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
134 ensaios clínicos encontrados, 23 ativos.
Publicações mais relevantes
Longitudinal Detection of Tumor-Specific Peptides in Cerebrospinal Fluid for Pediatric Brain Tumor Surveillance.
Pediatric brain tumor survivors remain at high risk of recurrence, yet current surveillance strategies relying on neuroimaging and cerebrospinal fluid (CSF) cytology have limited sensitivity for early or minimal disease. Tumor-specific peptides (TSPs) derived from individual tumors represent a promising class of highly specific biomarkers for longitudinal disease monitoring through CSF-based proteomic analysis. In this study, tumor tissue and serial CSF samples from six pediatric brain tumor patients (five medulloblastomas and one atypical teratoid/rhabdoid tumor (ATRT)) were analyzed using an integrated proteogenomic workflow combining discovery and targeted mass spectrometry. TSPs were identified from resected tumor tissue and matched against shotgun CSF proteomic datasets to nominate candidate biomarkers. High-confidence peptides were synthesized as isotopically labeled standards and quantified longitudinally using targeted multiple reaction monitoring. Two TSP biomarkers derived from individualized pediatric brain tumors (one medulloblastoma and one ATRT) demonstrated robust detection in serial CSF samples and exhibited temporal concordance with radiographic disease course, declining with treatment response and increasing during disease progression. These findings establish the feasibility of detecting and longitudinally quantifying TSPs in CSF and support further investigation of individualized proteomic biomarkers for treatment response monitoring and disease surveillance in pediatric brain tumors.
A Rare Thoracolumbar Spinal Atypical Teratoid/Rhabdoid Tumor in a 7-Year-Old Child: Diagnostic Challenges and Therapeutic Considerations.
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, highly aggressive embryonal neoplasm of the central nervous system, primarily diagnosed in children under three years of age, with spinal presentations accounting for fewer than 2% of patients. This report describes an unusual primary thoracolumbar spinal AT/RT in a 7-year-old girl who presented with severe, rapidly progressive pain impairing mobility. Magnetic resonance imaging revealed a large intradural extramedullary mass extending from T11 to L3 with marked compression of the conus medullaris and cauda equina. Surgical resection was performed, and histopathological evaluation confirmed rhabdoid morphology with characteristic immunophenotypic features, including loss of nuclear SMARCB1 (INI1) expression and elevated proliferative index, consistent with AT/RT. This case report highlights the diagnostic complexity due to overlapping features with other pediatric spinal tumors, necessitating comprehensive histological, immunohistochemical, and molecular analyses for accurate classification. Discussion integrates the patient tumor profile within the framework of WHO 2021 molecular subgroups, underscoring the clinical heterogeneity and poor prognosis associated with spinal AT/RT, particularly the aggressive AT/RT-MYC subtype. Despite maximal surgical and multimodal therapy, outcomes remain dismal, emphasizing the urgent need for collaborative research exploring targeted molecular and immunotherapeutic strategies. This case report expands limited literature, offering valuable insights for early recognition and management of spinal AT/RT in older pediatric patients.
Atypical Teratoid/Rhabdoid Tumor of the Posterior Fossa Mimicking Medulloblastoma in an Infant: A Case Report.
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare and highly aggressive central nervous system (CNS) neoplasm that predominantly affects children under three years of age. In the posterior fossa, AT/RT frequently mimics medulloblastoma (MB) on both radiological and histopathological evaluation. Owing to significant morphological overlap, a definitive diagnosis cannot be established on histology alone and requires immunohistochemical (IHC) confirmation, particularly demonstration of loss of nuclear integrase interactor 1 (INI1) expression. We report the case of a seven-month-old male infant who presented with signs of intracranial hypertension and rapidly progressive symptoms attributable to posterior fossa mass effect. Neuroimaging revealed a posterior fossa mass causing marked compression of the fourth ventricle and brainstem, resulting in obstructive hydrocephalus. Magnetic resonance imaging demonstrated heterogeneous contrast enhancement, initially suggestive of MB. Cerebrospinal fluid diversion was performed, followed by tumor biopsy and partial surgical resection. Although intraoperative findings and initial histopathological examination were suggestive of MB, subsequent IHC analysis demonstrated complete loss of nuclear INI1 expression, confirming the diagnosis of AT/RT. The patient subsequently received adjuvant chemotherapy. AT/RT should be strongly considered in infants presenting with posterior fossa tumors, particularly when radiological and histopathological features resemble MB. Early tissue diagnosis and routine use of INI1/SMARCB1 IHC are essential for accurate differentiation from morphologically similar entities, ensuring appropriate therapeutic management and prognostic assessment.
Enhanced Delivery of Aurora Kinase A Inhibitor Alisertib via Tumor-Targeting Immunoliposome Nanocomplex for Improved Treatment of Cancers Including Atypical Teratoid/Rhabdoid Tumor.
This study explores a nanoparticle-based delivery system for alisertib, a selective aurora kinase A (AURKA) inhibitor. This nanocomplex is designed to enhance tumor-specific delivery. AURKA is overexpressed in various cancers, including atypical teratoid/rhabdoid tumors (ATRTs) and is associated with poor clinical outcomes. Alisertib has demonstrated promising efficacy in multiple preclinical studies, which supported its advancement into clinical trials across various cancer types. However, alisertib has not met key efficacy endpoints primarily due to its poor biodistribution to tumors and inadequate penetration of biological barriers, including the blood-brain barrier (BBB). Our study aims to address these issues. To address the limitations of alisertib, we developed scL-ALI, a nanocomplex formulation designed to improve BBB penetration and to enhance tumor uptake of alisertib, to achieve higher effective intratumoral doses. Our new formulation of alisertib comprises a cationic liposome encapsulating the kinase inhibitor. This formulation incorporates an anti-transferrin receptor antibody fragment to enable efficient delivery into the central nervous system and facilitate tumor targeting. Here, we assessed the therapeutic efficacy of nano-formulated scL-ALI versus conventional alisertib utilizing patient-derived tumor cells and xenograft tumor models of various cancer types, including ATRT. Additionally, we investigated the potential synergistic effects of combining scL-ALI with radiation therapy, a standard treatment modality for brain tumors. Compared to conventional alisertib, scL-ALI more effectively inhibited AURKA activity and enhanced tumor cell killing of multiple cancer cell lines. In mouse models of ATRT, glioblastoma, and lung cancer, scL-ALI significantly improved tumor growth inhibition relative to conventional unencapsulared alisertib. Furthermore, when combined with radiation therapy, scL-ALI produced further improved antitumor effects, leading to extended survival in ATRT-bearing mice. These findings highlight the superiority of scL-ALI in overcoming delivery barriers and enhancing therapeutic efficacy of alisertib, while possibly minimizing undesirable side effects in normal tissues. The scL-ALI nanocomplex shows enhanced therapeutic potential for treating AURKA-driven malignancies, particularly in combination with radiation therapy.
Management of Pediatric Brain Tumors with the Aid of PET/MR Imaging.
The review highlights clinical use cases of PET/MR imaging in a pediatric multispecialty neuro-oncology practice with a focus on the role of hybrid imaging with PET/MR imaging, the application of the clinically available tracer fluorodeoxyglucose (18F-FDG), and opportunities in the implementation of amino acid-based tracers. Clinical examples of 18F-FDG hybrid PET/MR imaging use in pediatric diffuse gliomas, medulloblastomas, atypical teratoid rhabdoid tumor, metastatic disease with spine involvement, and cases where a brain tumor presents as a second malignancy are highlighted.
Publicações recentes
Aggressive atypical teratoid/rhabdoid tumor with extensive leptomeningeal metastasis in an 8-year-old boy: a case report and narrative review.
Pediatric Spinal Atypical Teratoid Rhabdoid Tumor: Recent Advances in Biology and Management Options.
Hemispherotomy for atypical teratoid rhabdoid tumor-associated drug-resistant epilepsy: illustrative case.
Revisiting preoperative diagnostic clues for adult primary sellar atypical teratoid/rhabdoid tumor: a rare entity mimicking pituitary adenoma.
Role of Surrogate Immunohistochemistry Markers in CNS Tumors in the Era of Molecular Diagnostics With Recent Updates.
📚 EuropePMC471 artigos no totalmostrando 197
A Rare Thoracolumbar Spinal Atypical Teratoid/Rhabdoid Tumor in a 7-Year-Old Child: Diagnostic Challenges and Therapeutic Considerations.
International journal of surgical pathologyAtypical Teratoid/Rhabdoid Tumor of the Posterior Fossa Mimicking Medulloblastoma in an Infant: A Case Report.
CureusEnhanced Delivery of Aurora Kinase A Inhibitor Alisertib via Tumor-Targeting Immunoliposome Nanocomplex for Improved Treatment of Cancers Including Atypical Teratoid/Rhabdoid Tumor.
International journal of nanomedicineLongitudinal Detection of Tumor-Specific Peptides in Cerebrospinal Fluid for Pediatric Brain Tumor Surveillance.
CellsManagement of Pediatric Brain Tumors with the Aid of PET/MR Imaging.
PET clinicsAtypical Teratoid Rhabdoid Tumor With TTF-1 Expression: A Case Report and Possible Insight Into Its Embryologic Origin.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyBeyond Aqueductal Stenosis: A Case of an Atypical Teratoid/Rhabdoid Tumor Presenting With Neonatal Hydrocephalus.
CureusPreclinical assessment of checkpoint blockade combined with DNA methyltransferase inhibition in high-risk pediatric brain tumors reveals limited therapeutic synergy.
Neuro-oncology advancesProton-Based Re-Irradiation of Locally Recurrent Pediatric Brain Tumors in Close Proximity to the Brainstem.
International journal of particle therapyRadiotherapy Utilization and Treatment Continuity of Pediatric Patients With Brain Tumor in Egypt: A Decade of Data.
JCO global oncologyDisordered DNA methylation leads to targetable transcriptional plasticity in ATRT.
Acta neuropathologica communicationsMalignant transformation of low-grade diffusely infiltrative tumor (LGDIT), SMARCB1-mutant to atypical teratoid/rhabdoid tumor (AT/RT).
NPJ genomic medicineA case report of atypical teratoid/rhabdoid tumor and pituitary adenoma collision tumor in the sellar region.
Frontiers in surgeryAtypical teratoid rhabdoid tumor with extraneural metastases: a case report with genomic analysis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAtypical Teratoid Rhabdoid Tumor: How Tumor Diagnostic Methods in the Laboratory Have Evolved over the Past 40 Years.
Cancers[Fertility Preservation for Pediatric Brain Tumor Patients: Current Status and Challenges].
No shinkei geka. Neurological surgery[Current Status and Prospects of Clinical Trials for Medulloblastoma and Atypical Teratoid/Rhabdoid Tumor].
No shinkei geka. Neurological surgeryPediatric Oncology Patients With Germline Pathogenic Variants in Adult-Onset Cancer Predisposition Genes.
JCO precision oncologyAtypical Teratoid/Rhabdoid Tumor of the Sellar Region in an Elderly Patient: A Case Report and Literature Review.
CureusFrom Traditional Therapies to Nanomedicine: A Thorough Examination of Atypical Teratoid Rhabdoid Tumor Treatment Methods.
Molecular pharmaceuticsCentral Nervous System Embryonal Tumors.
Neuroimaging clinics of North AmericaRole of immunohistochemistry in the molecular classification of atypical teratoid/rhabdoid tumor.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAtypical teratoid/rhabdoid tumor of the third ventricle in a pediatric patient: a case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCurrent advances in the management of atypical teratoid rhabdoid tumors (ATRT).
Advances in cancer researchA rare case of atypical teratoid rhabdoid tumor (AT/RT) with homozygous SMARCB1 loss and one concurrent somatic heterozygous SMARCA4 variant.
Acta neuropathologica communicationsUnusual Dual Brain Tumor Morphologies in an MEN1 Patient: A Case Report of Diagnostic Challenges and Methylation Insights.
International journal of molecular sciencesPotential clinical value of circulating tumor cells in predicting progression for atypical teratoid rhabdoid tumor in young children.
Journal of neuro-oncologyRare encounter of spinal atypical teratoid/rhabdoid tumor in an adult: A case report and review of clinicopathological diagnostic pitfalls.
Clinical neuropathologyInterhemispheric-Transcortical Approach for Resection of an Atypical Teratoid/Rhabdoid Tumor (AT/RT) of the Left Lateral and Third Ventricle.
Journal of neurological surgery reportsClinical and Molecular Characteristics of 100 Atypical Teratoid Rhabdoid Tumor Patients from Low- and Middle-Income Countries.
CancersOutcome of Infantile Malignant Solid Tumors: A Single-Center Experience.
Children (Basel, Switzerland)Aggressive sellar-suprasellar atypical teratoid rhabdoid tumor in a 38-year-old pregnant woman: a case report and literature review.
Annals of medicine and surgery (2012)Outcomes of Infants and Young Children With CNS Embryonal Tumors Using Pre-Irradiation Chemotherapy: A Decade Long Experience.
Cancer medicineAsymmetric Total Synthesis of 4,9,10-Trihydroxyguaia-11(13)en-12,6-olide and Discovery of Its Anticancer Activity against Atypical Teratoid Rhabdoid Tumor.
ACS central scienceA cycling, progenitor-like cell population at the base of atypical teratoid rhabdoid tumor subtype differentiation trajectories.
Neuro-oncologyOld Tools in a New Era: The Continued Relevance of Chemotherapy in Pediatric Neuro-Oncology.
Current oncology (Toronto, Ont.)Expression of LTR and LINE1 transposable elements defines atypical teratoid/rhabdoid tumor subtypes.
Acta neuropathologica communicationsSpinal Atypical Teratoid/Rhabdoid Tumor with Metastatic Lesions in the Bilateral Acoustic Nerves.
Pediatric blood & cancerMeasles Oncolytic Virus as an Immunotherapy for Recurrent/Refractory Pediatric Medulloblastoma and Atypical Teratoid/Rhabdoid Tumor: Results from PNOC005.
Clinical cancer research : an official journal of the American Association for Cancer ResearchSpecific imaging features of sellar atypical teratoid/rhabdoid tumor or the lack of thereof.
World journal of radiologyImportance of symptoms acuity for clinical diagnosis of primary sellar atypical teratoid/rhabdoid tumor.
World journal of clinical oncologyMalignant Rhabdoid Tumors of Cranial Nerves-A Clinically Distinct Group With Characteristic Neuroradiological, Histopathological, and Molecular Features.
Pediatric blood & cancerElevated Bromide Levels Due to Tazemetostat Therapy Treated With Salt and Water Supplementation in Two Children With Atypical Teratoid Rhabdoid Tumor.
Pediatric blood & cancerPediatric Atypical Teratoid Rhabdoid Tumor of Central Nervous System: A Case Series with Review of Literature.
Indian journal of surgical oncologyNavigating the complexity of atypical teratoid/rhabdoid tumor (ATRT) in pediatric neuro-oncology: Insights from clinical spectrum to therapeutic challenges.
International journal of surgery case reportsA Case of Adult-Onset Atypical Teratoid/Rhabdoid Tumor With Extracranial Metastasis.
CureusHigh-throughput screening of FDA-approved drugs identifies colchicine as a potential therapeutic agent for atypical teratoid/rhabdoid tumors (AT/RTs).
RSC advancesCase Report: SMARCB1-deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated with poor prognosis.
Frontiers in oncologyEffects of Induced Pluripotent Stem Cell-Derived Astrocytes on Cisplatin Sensitivity in Pediatric Brain Cancer Cells.
CancersCo-occurrence of congenital anomalies and childhood brain tumors in 22 million live births.
Neuro-oncologySWI/SNF complexes govern ontology-specific transcription factor function in MYC-subtype atypical teratoid rhabdoid tumor.
Neuro-oncologyClinical characteristics of patients with atypical teratoid/rhabdoid tumors: a monocentric retrospective analysis.
Frontiers in pediatricsCharacterizing the Natural History of Pediatric Brain Tumors Presenting with Metastasis.
CancersLocoregional infusion of EGFR806-CAR T cells for recurrent or refractory pediatric CNS tumors: Results of the completed BrainChild02 phase 1 clinical trial.
Neuro-oncologyEffect of tandem autologous stem cell transplantation on survival in pediatric patients with high-risk solid tumors in South China.
World journal of stem cellsPediatric isolated oculomotor nerve palsy induced by peduncular atypical teratoid/rhabdoid tumor: case report and literature review.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusCase report: Molecular characterization of adult atypical teratoid rhabdoid tumor and review of the literature.
Frontiers in oncologyNovel SMARCA4 Variant in an Infant With Atypical Teratoid Rhabdoid Tumor.
Journal of pediatric hematology/oncologyAn in vitro pharmacogenomic approach reveals subtype-specific therapeutic vulnerabilities in atypical teratoid/rhabdoid tumors (AT/RT).
Pharmacological researchSIRT2 Regulates the SMARCB1 Loss-Driven Differentiation Block in ATRT.
Molecular cancer research : MCRDevelopment of a Nomogram and Risk Grouping System for Predicting 1-Year Overall Survival of Patients With Atypical Teratoid/Rhabdoid Tumors.
Journal of child neurologyGenetic ancestry superpopulations show distinct prevalence and outcomes across pediatric central nervous system tumors from the Pediatric Brain Tumor Atlas and Pediatric Neuro-Oncology Consortium.
Neuro-oncologyDescriptive epidemiology and prognostic factors of atypical teratoid/rhabdoid tumors in the United States, 2001-2021.
Neurosurgical reviewThe CoREST complex inhibitor, corin, leads to decreased tumor growth, increased cellular differentiation and extended lifespan in atypical teratoid rhabdoid tumor xenograft models.
bioRxiv : the preprint server for biologyPediatric skull base tumors: Clinical features and surgical outcomes; a single center retrospective study with a review of literature.
Brain & spineAdult Primary Central Nervous System Atypical Teratoid/Rhabdoid Tumor Metastasizing to the Cervical Lymph Node.
CureusDesigning a time-dependent therapeutic strategy using CDK4/6 inhibitors in an intracranial ATRT model.
Neuro-oncologyA rare case of atypical teratoid rhabdoid tumor at the sellar region in an adult: Case report and review of literature.
Brain & spineDifferential Replication and Oncolytic Effects of Zika Virus in Aggressive CNS Tumor Cells: Insights from Organoid and Tumoroid Models.
VirusesAtypical Teratoid Rhabdoid Tumor of the Brain in a Young Adult With Down Syndrome: Case Report and Literature Review.
Journal of pediatric hematology/oncologyTreatment of cerebral radiation necrosis using hyperbaric oxygen therapy in a child: illustrative case.
Journal of neurosurgery. Case lessonsBrachyury Expression in Atypical Teratoid/Rhabdoid Tumor.
International journal of surgical pathologyProximal and Classic Epithelioid Sarcomas are Distinct Molecular Entities Defined by MYC/GATA3 and SOX17/Endothelial Markers, Respectively.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncNeuropathology Entities Involving the Sinonasal Tract.
Surgical pathology clinicsRe-programming by a six-factor-secretome in the patient tumor ecosystem during nutrient stress and drug response.
iScienceInhibiting EZH2 targets atypical teratoid rhabdoid tumor by triggering viral mimicry via both RNA and DNA sensing pathways.
Nature communicationsPediatric Central Nervous System Embryonal Tumors: Presentation, Diagnosis, Therapeutic Strategies, and Survivorship-A Review.
Pediatric neurologyRRM2 inhibition alters cell cycle through ATM/Rb/E2F1 pathway in atypical teratoid rhabdoid tumor.
Neoplasia (New York, N.Y.)Approaches for prevention of tumors in patients with rhabdoid tumor predisposition syndrome.
Neuro-oncology advancesPosterior pituitary tumors and other rare entities involving the pituitary gland.
Brain pathology (Zurich, Switzerland)Cerebrospinal fluid liquid biopsy by low-pass whole genome sequencing for clinical disease monitoring in pediatric embryonal tumors.
Neuro-oncology advancesDirect Administration of Chemotherapy and Other Agents into the Fourth Ventricle to Treat Recurrent Malignant Brain Tumors in Children.
Advances and technical standards in neurosurgeryPrediction of intraoperative blood loss in pediatric posterior fossa tumors by neuroradiological evaluation: preliminary study.
Neuro-ChirurgieDecoding pediatric spinal tumors: a single-center retrospective case series on etiology, presentation, therapeutic strategies, and outcomes.
Neurosurgical reviewGemcitabine therapeutically disrupts essential SIRT1-mediated p53 repression in atypical teratoid/rhabdoid tumors.
Cell reports. MedicinePediatric atypical teratoid/rhabdoid tumor in the cauda equina with rapid tumor progression: illustrative case.
Journal of neurosurgery. Case lessonsAutologous stem cell transplantation in adults with atypical teratoid rhabdoid tumor: a case report and review.
CNS oncologyOutcomes for children with recurrent/refractory atypical teratoid rhabdoid tumor: A single-institution study with molecular correlation.
Pediatric blood & cancerA kinome drug screen identifies multi-TKI synergies and ERBB2 signaling as a therapeutic vulnerability in MYC/TYR subgroup atypical teratoid rhabdoid tumors.
Neuro-oncologySpinal Atypical Teratoid Rhabdoid Tumor in a 14-Year-old Child With Down Syndrome: A Case Report.
Journal of pediatric hematology/oncologySMARCB1 Gene Therapy Using a Novel Tumor-Targeted Nanomedicine Enhances Anti-Cancer Efficacy in a Mouse Model of Atypical Teratoid Rhabdoid Tumors.
International journal of nanomedicine[Multiple primary tumors in children: a clinicopathological analysis of four cases].
Zhonghua bing li xue za zhi = Chinese journal of pathologyRetrospective experience of children with relapsed brain tumors treated with oral combination of axitinib and metronomic etoposide.
Pediatric blood & cancerDetection of tumor-derived cell-free DNA in cerebrospinal fluid using a clinically validated targeted sequencing panel for pediatric brain tumors.
Journal of neuro-oncologyPlasma miRNA expression profile in pediatric pineal pure germinomas.
Frontiers in oncologyAtypical Teratoid/Rhabdoid Tumor with Retained SMARCB1 (INI1) Expression and Rare SMARCA4 Gene Mutation: A Case Report of a Pediatric Patient.
Reports (MDPI)Central nervous system embryonal tumors with EWSR1-PLAGL1 rearrangements reclassified as INI-1 deficient tumors at relapse.
Journal of neuro-oncologyRare Coexistence: Pilocytic Astrocytoma With Atypical Teratoid/Rhabdoid Tumor Features in an Infant.
CureusClinical and histopathological spectrum of cranial small round cell tumors: An experience from a tertiary care center.
Journal of cancer research and therapeuticsRhabdoid tumor predisposition syndrome: A historical review of treatments and outcomes for associated pediatric malignancies.
Pediatric blood & cancerAtypical teratoid/rhabdoid tumor of the central nervous system: Clinicopathological features of two challenging cases.
International journal of surgery case reportsFeeder-free differentiation of human iPSCs into natural killer cells with cytotoxic potential against malignant brain rhabdoid tumor cells.
Bioactive materialsESTRO-SIOPE guideline: Clinical management of radiotherapy in atypical teratoid/rhabdoid tumors (AT/RTs).
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and OncologyHigh-Grade Atypical Teratoid/Rhabdoid Tumor in the Pituitary Region.
CureusDynamic Survival Risk Prognostic Model and Genomic Landscape for Atypical Teratoid/Rhabdoid Tumors: A Population-Based, Real-World Study.
CancersRecurrence Patterns and Surveillance Imaging in Pediatric Brain Tumor Survivors.
Journal of pediatric hematology/oncologyTwo Cases of Atypical Teratoid/Rhabdoid Tumor in the Spinal Cord: Loss of SMARCB1 in a Child and Loss of SMARCA4 in an Adult.
NMC case report journalAn adult with recurrent atypical teratoid rhabdoid tumor of the spine.
CNS oncologyA 7-year-old boy presented with temporal lobe lesion.
Brain pathology (Zurich, Switzerland)Atypical teratoid rhabdoid tumor in a lower middle‑income country: Challenges to cure.
Oncology lettersTargeting cholesterol biosynthesis for AT/RT: comprehensive expression analysis and validation in newly established AT/RT cell line.
Human cellEpidemiology, Characteristics, and Prognostic Factors of Primary Atypical Teratoid/Rhabdoid Tumors in the Spinal Canal: A Systematic Review.
NeurospineMultifocal atypical teratoid/rhabdoid tumour in an infant-a rare case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRapid, economical diagnostic classification of ATRT molecular subgroup using NanoString nCounter platform.
Neuro-oncology advancesRadiation Therapy Plays an Important Role in the Treatment of Atypical Teratoid/Rhabdoid Tumors: Analysis of the EU-RHAB Cohorts and Their Precursors.
International journal of radiation oncology, biology, physicsRecurrent spinal atypical teratoid/rhabdoid tumor with pulmonary metastasis.
Cancer reports (Hoboken, N.J.)METRO-PD1: Phase 1 study of nivolumab in combination with metronomic chemotherapy in children and adolescents with relapsing/refractory solid tumors.
European journal of cancer (Oxford, England : 1990)Successful peripheral blood stem cell harvesting for two pediatric cases of atypical teratoid/rhabdoid tumor with low bodyweight.
Pediatric blood & cancerTargeting of RRM2 suppresses DNA damage response and activates apoptosis in atypical teratoid rhabdoid tumor.
Journal of experimental & clinical cancer research : CRCurrent Molecular and Clinical Landscape of ATRT - The Link to Future Therapies.
Cancer management and researchTazemetostat in the therapy of pediatric INI1-negative malignant rhabdoid tumors.
Scientific reportsSellar Mass in 2 Patients With Acute-Onset Headache and Visual Symptoms: Not Your Usual Pituitary Adenoma.
AACE clinical case reportsSellar Suprasellar Surprise: A Rare Case of Atypical Teratoid/Rhabdoid Tumor in an Infant.
CureusMalignant rhabdoid tumor of kidney in an adult patient with positive family history of rhabdoid tumor: A case report and review of literature.
International journal of surgery case reportsSWI/SNF-deficient tumors of the central nervous system: An update.
Clinical neuropathologyEvaluation of INI1 Protein Expression Through IHC Study in Pediatric High-Grade Brain Tumors in South of Iran in 2008-2021.
Iranian journal of pathologyClinical diagnostic and radiographic features of primary spinal atypical teratoid rhabdoid tumors tumor in a pediatric patient: A case report and review of the literature.
Journal of central nervous system diseaseManagement of Atypical Teratoid/Rhabdoid Tumors in the Pediatric Population: A Systematic Review and Meta-Analysis.
World neurosurgerySystematic characterization of antibody-drug conjugate targets in central nervous system tumors.
Neuro-oncologySpinal ATRT and Radiotherapy Case Report in an Adult Man.
Oncology (Williston Park, N.Y.)Early death from childhood cancer: First medical record-level analysis reveals insights on diagnostic timing and cause of death.
Cancer medicineSellar atypical teratoid/rhabdoid tumor in adults: survival analysis of treatment strategies. Illustrative case.
Journal of neurosurgery. Case lessonsSynchronous congenital malignant rhabdoid tumor of the orbit and cerebellar atypical teratoid/rhabdoid tumor: Case report.
Radiology case reportsAtypical Teratoid/Rhabdoid Tumor of the Nervous System in Adults: Location-Related Features and Outcome.
World neurosurgeryModeling human brain rhabdoid tumor by inactivating tumor suppressor genes in induced pluripotent stem cells.
Bioactive materialsSurvival Benefit from Multimodal Treatment for Patients with Atypical Teratoid Rhabdoid Tumor in a Surveillance, Epidemiology, and End Results Database Analysis.
OncologyB7-H3 in Brain Malignancies: Immunology and Immunotherapy.
International journal of biological sciencesRhabdoid tumors in patients conceived following ART: is there an association?
Human reproduction (Oxford, England)Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.
Genes, chromosomes & cancerInfantile (congenital) anaplastic intracranial solitary fibrous tumor/hemangiopericytoma-A case report with brief literature review.
Indian journal of pathology & microbiologyNovel Strategy Involving High-Dose Chemotherapy with Stem Cell Rescue Followed by Intrathecal Topotecan Maintenance Therapy without Whole-Brain Irradiation for Atypical Teratoid/Rhabdoid Tumors.
Pediatric hematology and oncologyFocal glioneuronal differentiation in an atypical teratoid/rhabdoid tumor after chemoradiotherapy.
Pathology internationalCurrent advances in immunotherapy for atypical teratoid rhabdoid tumor (ATRT).
Neuro-oncology practiceEmbryonal Tumors of the Central Nervous System with Multilayered Rosettes and Atypical Teratoid/Rhabdoid Tumors.
Advances in experimental medicine and biologyThe Role of Immunotherapy in the Treatment of Rare Central Nervous System Tumors.
Current oncology (Toronto, Ont.)Current Open Trials and Molecular Update for Pediatric Embryonal Tumors.
Pediatric neurosurgeryPediatric Posterior Fossa ATRT: A Case Report, New Treatment Strategies and Perspectives.
Brain sciencesTazemetostat for tumors harboring SMARCB1/SMARCA4 or EZH2 alterations: results from NCI-COG pediatric MATCH APEC1621C.
Journal of the National Cancer InstituteSurvival benefit of postoperative radiotherapy for pediatric patients with primary intracranial atypical teratoid/rhabdoid tumors: Propensity score analysis and prediction model construction in a multi-registry based cohort.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaPrognostic factors of pediatric pineal region tumors at a single institution.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEpigenetic Regulation in Primary CNS Tumors: An Opportunity to Bridge Old and New WHO Classifications.
CancersSpinal atypical teratoid rhabdoid tumor-narrative review and report of a rare case managed with multimodality approach.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPosterior fossa tumors in children: An update and new concepts.
Surgical neurology internationalOutcomes and surgical approaches for pineal region tumors in children: 30 years' experience.
Journal of neurosurgery. PediatricsLarge intracranial atypical teratoid / rhabdoid tumor with preserved INI-1 expression: A case report.
Asian journal of surgeryAtypical Teratoid/Rhabdoid Tumor of the Sellar Region in an Adult Male: A Case Report.
CureusAn infantile pineal embryonal tumor showing pathological features of a CNS ganglioneuroblastoma and the methylation profiling of an atypical teratoid/rhabdoid tumor and SMARCA4 mutation.
Journal of neuropathology and experimental neurologyAtypical Teratoid Rhabdoid Tumor Presenting as Acute Optic Neuritis--A Rare Case in an Adult Chinese Patient.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyFocal versus craniospinal radiation for disseminated atypical teratoid/rhabdoid tumor following favorable response to systemic therapy.
Pediatric blood & cancerCharacterization of Switch/Sucrose Nonfermenting Complex Proteins and Nestin Expression in a Cohort of Pediatric Central Nervous System Tumors.
Applied immunohistochemistry & molecular morphology : AIMMRadiotherapy for Atypical Teratoid/Rhabdoid Tumor (ATRT) on the Pediatric Proton/Photon Consortium Registry (PPCR).
Journal of neuro-oncologyMRI features of pediatric atypical teratoid rhabdoid tumors and medulloblastomas of the posterior fossa.
Cancer medicineThe PARP inhibitor Rucaparib synergizes with radiation to attenuate atypical teratoid rhabdoid tumor growth.
Neuro-oncology advancesEfficacy and safety of bevacizumab, irinotecan, and temozolomide combination for relapsed or refractory pediatric central nervous system embryonal tumor: a single-institution study.
Journal of neurosurgery. PediatricsIncreased Radiation Sensitivity in Patients with Phelan-McDermid Syndrome.
CellsSuccessful stem cell collection for atypical teratoid rhabdoid tumor in an extremely low-body weight child: A case report.
Journal of clinical apheresisModeling nervous system tumors with human stem cells and organoids.
Cell regeneration (London, England)Spinal epidural lipomatosis in a pediatric patient with a malignant brain tumor: illustrative case.
Journal of neurosurgery. Case lessonsProlonged remission achieved with maintenance intraventricular chemotherapy in young patient with recurrent atypical teratoid rhabdoid tumor.
Pediatric blood & cancerRecent progress and novel approaches to treating atypical teratoid rhabdoid tumor.
Neoplasia (New York, N.Y.)Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging Findings.
Diagnostics (Basel, Switzerland)Endoscopic Resection of Intraspinal Malignant Atypical Teratoid/Rhabdoid Tumor: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Tacedinaline (CI-994), a class I HDAC inhibitor, targets intrinsic tumor growth and leptomeningeal dissemination in MYC-driven medulloblastoma while making them susceptible to anti-CD47-induced macrophage phagocytosis via NF-kB-TGM2 driven tumor inflammation.
Journal for immunotherapy of cancerCell of Origin of Brain and Spinal Cord Tumors.
Advances in experimental medicine and biologyA rare case of multifocal atypical teratoid rhabdoid tumor.
Radiology case reports[Pediatric Posterior Fossa Tumors].
No shinkei geka. Neurological surgeryMagnetic Resonance Imaging (MRI) and Positron Emission Tomography (PET)/Computed Tomography Features of Atypical Teratoid/Rhabdoid Tumors: Case Series and Review.
Journal of child neurologyCase report: Atypical teratoid/rhabdoid tumor of the lateral ventricle in a male adolescent (case-based review and diagnostic challenges in developing countries).
Frontiers in oncologyA phase I trial of metformin in combination with vincristine, irinotecan, and temozolomide in children with relapsed or refractory solid and central nervous system tumors: A report from the national pediatric cancer foundation.
Cancer medicinePrimary cilia contribute to the aggressiveness of atypical teratoid/rhabdoid tumors.
Cell death & disease[Analysis of 18 cases of malignant rhabdoid tumor in children].
Zhonghua er ke za zhi = Chinese journal of pediatricsAtypical Teratoid/Rhabdoid Tumor of the Central Nervous System in Children: Case Reports and Literature Review.
Frontiers in surgerySellar Atypical Teratoid/Rhabdoid Tumors (AT/RT): A Systematic Review and Case Illustration.
CureusSustained and durable response with Alisertib monotherapy in the treatment of relapsed Atypical Teratoid Rhabdoid Tumor (ATRT).
Neuro-oncology advancesAn unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient.
Neuro-oncology advancesHuman Malignant Rhabdoid Tumor Antigens as Biomarkers and Potential Therapeutic Targets.
CancersMolecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement.
Frontiers in oncologySMARCB1-Deficient Cancers: Novel Molecular Insights and Therapeutic Vulnerabilities.
CancersRecent Advances in Renal Medullary Carcinoma.
International journal of molecular sciencesPrimary adult sellar SMARCB1/INI1-deficient tumor represents a subtype of atypical teratoid/rhabdoid tumor.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc[Clinicopathological and molecular genetic characterization of 2 cases of atypical teratoid/rhabdoid tumor of central nervous system in adult patients].
Zhonghua bing li xue za zhi = Chinese journal of pathologyWhole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.
Brain tumor pathologyBromodomain and Extra-Terminal Protein Inhibitors: Biologic Insights and Therapeutic Potential in Pediatric Brain Tumors.
Pharmaceuticals (Basel, Switzerland)Pituitary Stalk Thickening: Causes and Consequences. The Children's Memorial Health Institute Experience and Literature Review.
Frontiers in endocrinologyPhase II study of alisertib as a single agent for treating recurrent or progressive atypical teratoid/rhabdoid tumor.
Neuro-oncologyEmbryonal tumors in the WHO CNS5 classification: A Review.
Indian journal of pathology & microbiologyGiant Pediatric Supratentorial Tumor: Clinical Feature and Surgical Strategy.
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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.
- Longitudinal Detection of Tumor-Specific Peptides in Cerebrospinal Fluid for Pediatric Brain Tumor Surveillance.
- A Rare Thoracolumbar Spinal Atypical Teratoid/Rhabdoid Tumor in a 7-Year-Old Child: Diagnostic Challenges and Therapeutic Considerations.
- Atypical Teratoid/Rhabdoid Tumor of the Posterior Fossa Mimicking Medulloblastoma in an Infant: A Case Report.
- Enhanced Delivery of Aurora Kinase A Inhibitor Alisertib via Tumor-Targeting Immunoliposome Nanocomplex for Improved Treatment of Cancers Including Atypical Teratoid/Rhabdoid Tumor.
- Management of Pediatric Brain Tumors with the Aid of PET/MR Imaging.
- Aggressive atypical teratoid/rhabdoid tumor with extensive leptomeningeal metastasis in an 8-year-old boy: a case report and narrative review.
- Pediatric Spinal Atypical Teratoid Rhabdoid Tumor: Recent Advances in Biology and Management Options.
- Hemispherotomy for atypical teratoid rhabdoid tumor-associated drug-resistant epilepsy: illustrative case.
- Revisiting preoperative diagnostic clues for adult primary sellar atypical teratoid/rhabdoid tumor: a rare entity mimicking pituitary adenoma.
- Role of Surrogate Immunohistochemistry Markers in CNS Tumors in the Era of Molecular Diagnostics With Recent Updates.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:99966(Orphanet)
- MONDO:0020560(MONDO)
- GARD:16926(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q631904(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.
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