Neoplasia embrionária maligna agressiva que geralmente ocorre durante a infância. É caracterizada pela presença de células grandes com citoplasma abundante, grande núcleo excêntrico e nucléolo proeminente e está associada a anomalias do cromossomo 22. Pode surgir do sistema nervoso central, rim e tecidos moles. O prognóstico é ruim.
Introdução
O que você precisa saber de cara
Neoplasia embrionária maligna agressiva que geralmente ocorre durante a infância. É caracterizada pela presença de células grandes com citoplasma abundante, grande núcleo excêntrico e nucléolo proeminente e está associada a anomalias do cromossomo 22. Pode surgir do sistema nervoso central, rim e tecidos moles. O prognóstico é ruim.
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
+ 20 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 40 características clínicas mais associadas, ordenadas por frequência.
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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 5,352 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
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Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Tumores rabdoides
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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138 ensaios clínicos encontrados, 36 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.035
Impact of Radiation Therapy on Malignant Rhabdoid Tumor of the Kidney: A National Cancer Database Analysis.
Malignant rhabdoid tumor of the kidney (MRTK) is a rare and aggressive tumor, primarily affecting infants and young children. Intensive multimodal treatment is standard, entailing chemotherapy, surgery, and radiation therapy (RT). Although previous studies have demonstrated the importance of chemotherapy and surgery, the impact of RT on patient outcomes is unclear. Patients diagnosed with MRTK from 2004 to 2019 were analyzed from the National Cancer Database. Patients who did not receive surgery or chemotherapy or died within 30 days after surgery were excluded. Kaplan-Meier survival analyses were conducted to evaluate overall survival (OS) of the entire cohort, stratified by age, metastatic disease, and RT utilization. Log-rank tests were used to compare survival distributions. The cohort included 103 patients. Median age was <1 year (range <1-15, interquartile range: 0-1 year). Forty-eight (47%) patients presented with metastatic disease at diagnosis. Sixty-six (64%) patients received RT. One- and three-year OS were 55% and 45%, respectively. Median OS for the entire cohort was 12.2 months. Patients aged <1 year exhibited significantly worse 3-year OS compared to those aged ≥1 year (28% vs. 64%, p < 0.001). Metastatic disease was associated with worse 3-year OS compared to localized disease (25% vs. 62%, p < 0.001). Patients who received RT demonstrated significantly better 3-year OS than those who did not receive RT (58% vs. 19%, p < 0.001). In patients with localized disease, RT to the primary tumor bed was associated with improved 3-year OS compared to no RT (74% vs. 33%, p = 0.008). Among patients with metastatic disease, treatment with RT to either primary and/or metastatic site was also associated with a 3-year OS benefit compared to no RT (38% vs. 10%, p < 0.001). Although MRTK remains highly lethal in infants and particularly those with metastatic disease, RT was independently associated with improved survival in patients with and without metastatic disease.
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.
Rhabdoid tumors as a novel target for PSMA-directed CAR T cell therapy.
Rhabdoid tumor is an ultra-rare and highly aggressive pediatric malignancy with a poor prognosis and limited therapeutic options. To identify novel immunotherapeutic targets, transcriptomic data from the Cancer Cell Line Encyclopedia were analyzed, and we found that two rhabdoid tumor cell lines exhibit high expression of prostate-specific membrane antigen (PSMA), with levels comparable to well-established PSMA-positive prostate cancer cell lines. PSMA expression in rhabdoid tumors was subsequently validated in cell lines and in a subset of primary clinical rhabdoid tumor specimens. While PSMA-directed therapies have primarily been explored in prostate cancer, we evaluated their potential in rhabdoid tumors by employing PSMA-directed chimeric antigen receptor (CAR) T cells. These CAR T cells demonstrated potent and antigen-specific cytotoxicity against PSMA-positive rhabdoid tumor cells in vitro. In addition, the in vivo efficacy was also assessed in xenograft mouse models of non-CNS tumors, where PSMA CAR T cell treatment resulted in significant tumor regression and robust accumulation of CAR T cells within the tumor microenvironment. Together, these findings establish PSMA as a promising surface antigen beyond prostate cancer and provide preclinical evidence supporting the development of PSMA-directed therapies for this highly lethal pediatric cancer.
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.
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.
📚 EuropePMC1.092 artigos no totalmostrando 198
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.
CureusPhase I/II Study of the CDK2/9 Inhibitor Fadraciclib in Combination with Chemotherapy in Children with Advanced Malignancies: Arm K of the AcSé-ESMART Trial.
Targeted oncologyEnhanced 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 nanomedicineImpact of Radiation Therapy on Malignant Rhabdoid Tumor of the Kidney: A National Cancer Database Analysis.
Pediatric blood & cancerLongitudinal 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 clinicsRare localization of a rhabdoid tumor in the elbow of a 6-year-old child: A case report.
Radiology case reportsSynchronous malignant rhabdoid tumor of the kidney and adrenal neuroblastoma in an infant treated with proton beam therapy: a case report and literature review.
Frontiers in oncologyAtypical 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 SocietyRhabdoid tumors as a novel target for PSMA-directed CAR T cell therapy.
Molecular therapy. OncologyBeyond Aqueductal Stenosis: A Case of an Atypical Teratoid/Rhabdoid Tumor Presenting With Neonatal Hydrocephalus.
CureusTargeting CDK11 in Rhabdoid Tumor of the Kidney.
CancersSMARCB-1-Positive Rhabdoid Squamous Cell Carcinoma Following Liver Transplant: Systematic Review and Unique Case Report.
The American Journal of dermatopathologyPreclinical assessment of checkpoint blockade combined with DNA methyltransferase inhibition in high-risk pediatric brain tumors reveals limited therapeutic synergy.
Neuro-oncology advancesDesmoplastic Small Round Cell Tumor: Study of Cytomorphologic and Immunophenotypical Features in Seven Cases, One With Unusual Rhabdoid Morphology.
Diagnostic cytopathologyHistogenesis of Atypical Teratoid Rhabdoid Tumors: Anatomical and Embryological Perspectives.
CancersProton-Based Re-Irradiation of Locally Recurrent Pediatric Brain Tumors in Close Proximity to the Brainstem.
International journal of particle therapyMalignant rhabdoid tumor of the kidney in a 27-Year-Old adult: a rare case with favorable outcomes following surgery and adjuvant radiotherapy.
World journal of surgical oncologyAn update on the role of SMARCA4 deficiency in gynecological neoplasms: how and where.
Virchows Archiv : an international journal of pathologyRadiotherapy 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 surgeryMalignant extrarenal rhabdoid tumor: a case report.
Journal of medical case reportsDefective Microhomology-Mediated End-joining in SMARCB1-Deficient Tumors.
bioRxiv : the preprint server for biologyPediatric 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 AmericaClinical challenges of cancer predisposition syndromes with pediatric central nervous system tumors: a single-center study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRole 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 researchDeciphering metastasis in pediatric Wilms' and rhabdoid tumors: IMPA2 as a key molecular player and promising therapeutic target.
Biochemical and biophysical research communicationsA 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-oncologyClaudin 6 is a suitable target for CAR T-cell therapy in atypical teratoid/rhabdoid brain tumors and other pediatric solid tumors.
Journal for immunotherapy of cancerRare encounter of spinal atypical teratoid/rhabdoid tumor in an adult: A case report and review of clinicopathological diagnostic pitfalls.
Clinical neuropathologyPediatric renal rhabdoid tumor: Imaging features and diagnostic challenges of a rare and aggressive neoplasm.
Radiology case reportsInterhemispheric-Transcortical Approach for Resection of an Atypical Teratoid/Rhabdoid Tumor (AT/RT) of the Left Lateral and Third Ventricle.
Journal of neurological surgery reportsCancer Predisposition Syndromes With Involvement of the Head and Neck Regions in Children: An Imaging Guide.
Journal of neuroimaging : official journal of the American Society of NeuroimagingClinical 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)Case Report: Multidisciplinary management and nursing care for a preterm infant with rare extrarenal malignant rhabdoid tumor: a clinical case study.
Frontiers in pediatricsMalignant Rhabdoid Tumors of the Liver Are Associated With Inferior Outcomes Compared to Other Extracranial Rhabdoid Tumors.
Pediatric blood & cancerRevisiting the Incidence of Hypercalcemia in Contemporary Diagnoses of Pediatric Patients With Solid Tumors.
Pediatric blood & cancerCongenital Extrarenal Malignant Rhabdoid Tumor Involving the Right Shoulder in a Newborn Baby.
Journal of Indian Association of Pediatric SurgeonsSubcapsular effusion in a pediatric renal rhabdoid tumor.
Pediatric radiologySpatial and multi-omic profiling reveals genes and pathways associated with cytotoxic lymphocyte infiltration in malignant rhabdoid tumor.
Research squareAggressive 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)INI1-Deficient Carcinoma of the Gallbladder.
International journal of surgical pathologyEpigenetic targeting of PGBD5-dependent DNA damage in SMARCB1-deficient sarcomas.
The Journal of clinical investigationSMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.
Familial cancerOutcomes of Infants and Young Children With CNS Embryonal Tumors Using Pre-Irradiation Chemotherapy: A Decade Long Experience.
Cancer medicineSmall bowel metastatic SWI/SNF-deficient undifferentiated carcinoma may be predictive of lung primary-a rare presentation with novel SMARCA2 mutation findings in a study of three cases.
Virchows Archiv : an international journal of pathologyComprehensive mRNA Expressional Analysis of SMARCB1-Deficient Renal Cell Carcinoma in Patients Without Hemoglobinopathies.
Genes, chromosomes & cancerUndifferentiated Adenocarcinoma With Rhabdoid Features of the Stomach: A Case Report.
CureusMucin 16-Directed Therapy in Pediatric Sarcomas: Case Evidence of Ubamatamab Efficacy in Epithelioid Sarcoma and Its Implications for Other Sarcoma Subtypes.
JCO precision oncologyAsymmetric 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-oncologyThe Role of the Surgical Pathologist in the Recognition of Hereditary Mesenchymal Neoplasms.
Advances in anatomic pathologyOld Tools in a New Era: The Continued Relevance of Chemotherapy in Pediatric Neuro-Oncology.
Current oncology (Toronto, Ont.)Intrathoracic Rhabdoid Tumors Showing Rapid Progress in Patients with a History of Immune-suppressive Therapies for Hematological Diseases.
Internal medicine (Tokyo, Japan)Expression of LTR and LINE1 transposable elements defines atypical teratoid/rhabdoid tumor subtypes.
Acta neuropathologica communicationsPrimary non-hepatoblastoma liver tumors in children-Defining the profile of a very rare subset of childhood tumors.
Indian journal of gastroenterology : official journal of the Indian Society of GastroenterologyMYC Regulates a DNA Repair Gene Expression Program in Small Cell Carcinoma of the Ovary, Hypercalcemic Type.
CancersEvaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.
Cancer geneticsNovel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.
Pediatric blood & cancerKetone Bodies Inhibit Growth of Hepatoblastoma and Rhabdoid Tumor of the Kidney Cells.
Anticancer researchPaediatric renal tumors: An insight into molecular characteristics, histomorphology and syndromic association.
World journal of nephrologySpinal 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 oncologyLoss of YTHDF1 suppresses the progression of malignant rhabdoid tumor of the kidney by regulating Glutathione S-transferase Mu 2 (GSTM2).
Cell biology and toxicologyMalignant Rhabdoid Tumors of Cranial Nerves-A Clinically Distinct Group With Characteristic Neuroradiological, Histopathological, and Molecular Features.
Pediatric blood & cancerWhat is New in Pediatric Hepatic Neoplasms.
Surgical pathology clinicsImage-guided targeting of mitochondrial metabolism sensitizes pediatric malignant rhabdoid tumors to low-dose radiotherapy.
Science advancesSpatiotemporal T-cell tracking for personalized T-cell receptor T-cell therapy designs in childhood cancer.
Annals of oncology : official journal of the European Society for Medical OncologyElevated Bromide Levels Due to Tazemetostat Therapy Treated With Salt and Water Supplementation in Two Children With Atypical Teratoid Rhabdoid Tumor.
Pediatric blood & cancerA Novel Conditionally Replicative Oncolytic Adenovirus under the Control of the SALL4 Promoter Inhibits the Growth of Rhabdoid Tumors.
Molecular cancer therapeuticsSMARCB1-Deficient Pulmonary Mesenchymal Tumor Without Malignant Histological Features.
Pathology internationalWhole Abdominal Radiotherapy Is Tolerable and Effective in Children and Young Adults With Intra-Abdominal Sarcoma: A Canadian Sarcoma Research and Clinical Collaboration (CanSaRCC) Study.
Pediatric blood & cancerPediatric Atypical Teratoid Rhabdoid Tumor of Central Nervous System: A Case Series with Review of Literature.
Indian journal of surgical oncologyDiagnostic challenge of malignant rhabdoid tumor presenting as a forehead mass in an infant: A case report.
International journal of surgery case reportsNavigating 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.
CureusLong-Term Outcomes of Radiation Therapy for Pediatric Brain Tumors: A Single-Center Study.
CureusA Rare Case of Recurrent Infant Mediastinal Malignant Rhabdoid Tumor With MSH2 Germline Mutation.
Pediatric blood & cancerHigh-throughput screening of FDA-approved drugs identifies colchicine as a potential therapeutic agent for atypical teratoid/rhabdoid tumors (AT/RTs).
RSC advancesMulti-omics analysis reveals key immunogenic signatures induced by oncolytic Zika virus infection of paediatric brain tumour cells.
Scientific reportsCase Report: SMARCB1-deficient phenotype may be a new specialized type of pleomorphic xanthoastrocytoma associated with poor prognosis.
Frontiers in oncologyIntrathoracic Rhabdoid Tumor: A Rare Site in a Jordanian Infant.
CureusOptimized zymogram protocol from 3D spheroid cultures to study MMP-2 and -9 activities in tumor cells.
BMC biotechnologyEffects of Induced Pluripotent Stem Cell-Derived Astrocytes on Cisplatin Sensitivity in Pediatric Brain Cancer Cells.
CancersRhabdoid Tumor Predisposition Syndrome : A Comprehensive Review of Genetics, Clinical Manifestations, and Management.
Journal of Korean Neurosurgical SocietyCo-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 pediatricsA Complex Case of Diffused Malignant Extra-Renal Rhabdoid Tumor in a Newborn.
Ear, nose, & throat journalAssociating Liver Partition with Portal Vein Ligation and Staged Hepatectomy (ALPPS): Feasibility of Performing in Infants with Large Hepatic Tumor-Case Report.
Healthcare (Basel, Switzerland)Untangling the Role of MYC in Sarcomas and Its Potential as a Promising Therapeutic Target.
International journal of molecular sciencesCharacterizing 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/oncologyMesenteric SMARCA2-Deficient Yet SMARCA4-Preserved Aggressive Undifferentiated Tumor: A Case Report.
Surgical case reportsCrucial role of preserving umbilical cord stumps for genetic decoding of a family with rhabdoid tumor predisposition syndrome.
GeneGem-TIP as a salvage therapy for pediatric extracranial malignant rhabdoid tumors: insights from a retrospective case series.
BMC cancerA Retrospective Review of 28 Cases of Pediatric Malignant Renal Tumors at a Single Institution.
Diseases (Basel, Switzerland)An 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 : MCRPaediatric Renal Tumors: A State-of-the-Art Review.
Current oncology reportsExtra-renal non-cerebral malignant rhabdoid tumor in children: does maintenance chemotherapy play a role in survival?
MedicinaMesenchymal Neoplasms of the Kidney and Perinephric Soft Tissue.
Surgical pathology clinicsPediatric Genitourinary Tumors: The Developmental Angle.
Surgical pathology clinicsHallmark discoveries in the biology of non-Wilms tumour childhood kidney cancers.
Nature reviews. UrologyA case of rhabdoid meningioma originating from the optic nerve.
Neuropathology : official journal of the Japanese Society of NeuropathologyDevelopment of a Nomogram and Risk Grouping System for Predicting 1-Year Overall Survival of Patients With Atypical Teratoid/Rhabdoid Tumors.
Journal of child neurologySMARCB1-deficient malignant melanocytic uveal tumours: a new neural crest-derived tumour entity with SMARCB1-related germline predisposition.
The Journal of pathologyGenetic 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-oncologyPrimary diffuse leptomeningeal atypical teratoid/rhabdoid tumours (ATRT) of childhood: a molecularly characterised case report and literature review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery"Update on pediatric primary liver tumors".
Virchows Archiv : an international journal of pathologyDescriptive epidemiology and prognostic factors of atypical teratoid/rhabdoid tumors in the United States, 2001-2021.
Neurosurgical reviewPaediatric renal tumours: an update on challenges and recent developments.
Virchows Archiv : an international journal of pathologyThe 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 biologySpectrum of Renal Tumors Other Than Renal Cell Carcinoma with Emphasis on Cytomorphological, Immunohistochemical, and Cytogenetic Study.
Journal of cytologyImaging Findings of an Unusual Malignant Renal Tumor in an Infant.
CureusPrimary classical seminoma of the testis with rhabdoid differentiation.
BMJ case reportsMetabolic profiling of patient-derived organoids reveals nucleotide synthesis as a metabolic vulnerability in malignant rhabdoid tumors.
Cell reports. MedicineAGGRESSIVE RHABDOID TUMOR IN THE RIGHT LUNG: A CASE REPORT.
Experimental oncologyRhabdoid Tumor of the Kidney and Soft Tissues: Results from National Wilms Tumor Study-5 and Children's Oncology Group Study AREN0321.
Pediatric blood & cancerPediatric 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 & spineCharacterization of malignant kidney tumors in childhood by 18F-FDG PET/CT.
World journal of urologyFunctional screening reveals genetic dependencies and diverging cell cycle control in atypical teratoid rhabdoid tumors.
Genome biologyDifferential 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 lessonsAbsence of SMARCB1 in rhabdoid tumor cells increases sensitivity to translation inhibition and alters translation efficiency of specific mRNAs.
The Journal of biological chemistrySwitch/Sucrose Nonfermentable-Deficient Tumors-Morphology, Immunophenotype, Genetics, Epigenetics, Nosology, and Therapy.
Laboratory investigation; a journal of technical methods and pathologySuccessful treatment of a 4-year-old girl with pure malignant rhabdoid tumor of the bladder: a case report.
Translational pediatricsBrachyury 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, IncNodular Melanoma Presenting with Cutaneous Horn and Displaying Rhabdoid Features: An Unusual Presentation.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPNeuropathology 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 advancesSALL4 and C-kit positive malignant extrarenal rhabdoid tumor of the pelvis in a child: A diagnostic and therapeutic challenge.
Journal of cancer research and therapeuticsSMARCA4 and SMARCA2 co-deficiency: An uncommon molecular signature defining a subset of rare, aggressive and undifferentiated malignancies associated with defective chromatin remodeling.
Cancer letters[Pediatric soft tissue tumors : Tumors of uncertain origin].
Pathologie (Heidelberg, Germany)Posterior pituitary tumors and other rare entities involving the pituitary gland.
Brain pathology (Zurich, Switzerland)Role of Fine Needle Aspiration Cytology in Paratesticular Neoplasms-A Case Reports-Based Systematic Review.
Diagnostic cytopathologyCerebrospinal fluid liquid biopsy by low-pass whole genome sequencing for clinical disease monitoring in pediatric embryonal tumors.
Neuro-oncology advancesConstitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.
Neuro-oncologyDirect 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 reviewElimination of mutant SWI/SNF complexes by protein quality control: new opportunities targeting aggressive rhabdoid tumours.
Signal transduction and targeted therapyGemcitabine therapeutically disrupts essential SIRT1-mediated p53 repression in atypical teratoid/rhabdoid tumors.
Cell reports. MedicinePHF6 cooperates with SWI/SNF complexes to facilitate transcriptional progression.
Nature communicationsEffect of emergent nephrostomy on long-term total and split renal function in patients with upper urinary tract obstruction due to pelvic malignant tumors.
Pediatric surgery internationalResection of a primary mediastinal malignant rhabdoid tumor: A study in multidisciplinary collaboration and 3-dimensional printing.
JTCVS techniquesUterine tumors mimicking ovarian sex cord tumors with rhabdoid differentiation: a clinicopathologic study of 4 cases: A case series analysis.
MedicinePediatric atypical teratoid/rhabdoid tumor in the cauda equina with rapid tumor progression: illustrative case.
Journal of neurosurgery. Case lessonsNRP1 knockdown inhibits the invasion and migration of rhabdoid tumor of the kidney cells.
Pediatric surgery internationalDiscovery of CW-3308 as a Potent, Selective, and Orally Efficacious PROTAC Degrader of BRD9.
Journal of medicinal chemistryClinical protocol phase II study of tumor infiltrating lymphocytes in advanced tumors with alterations in the SWI/SNF complex: the TILTS study.
Future oncology (London, England)Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors.
Clinical cancer research : an official journal of the American Association for Cancer ResearchLate-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.
European journal of human genetics : EJHGSMARCA4-deficient primary bone sarcoma with "teratoid" features in a rhabdoid tumor predisposition syndrome patient.
Virchows Archiv : an international journal of pathologyPostzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.
Neuro-oncologyMalignant Rhabdoid Tumor and Related Pediatric Tumors: Multimodality Imaging Review with Pathologic Correlation.
Radiographics : a review publication of the Radiological Society of North America, IncAutologous 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 & cancerMalignant rhabdoid tumor of the urinary bladder in a 1-year and 9-month-old girl: A case report and literature review.
Pediatrics and neonatologyA 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/oncologyTumoral EIF4EBP1 regulates the crosstalk between tumor-associated macrophages and tumor cells in MRTK.
European journal of pharmacologySMARCB1/INI1-deficient undifferentiated carcinoma of the ileum with features of rhabdoid tumor: A case report.
Asian journal of surgerySMARCB1 Gene Therapy Using a Novel Tumor-Targeted Nanomedicine Enhances Anti-Cancer Efficacy in a Mouse Model of Atypical Teratoid Rhabdoid Tumors.
International journal of nanomedicineSynergistic Antitumor Activity of Talazoparib and Temozolomide in Malignant Rhabdoid Tumors.
CancersMesenchymal neoplasms of the tongue: A clinicopathologic study of 93 cases.
Human pathologyKnocking Out CD70 Rescues CD70-Specific NanoCAR T Cells from Antigen-Induced Exhaustion.
Cancer immunology researchTargeting dependency on a paralog pair of CBP/p300 against de-repression of KREMEN2 in SMARCB1-deficient cancers.
Nature communicationsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- Impact of Radiation Therapy on Malignant Rhabdoid Tumor of the Kidney: A National Cancer Database Analysis.
- Longitudinal Detection of Tumor-Specific Peptides in Cerebrospinal Fluid for Pediatric Brain Tumor Surveillance.
- Rhabdoid tumors as a novel target for PSMA-directed CAR T cell therapy.
- 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.
- 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:69077(Orphanet)
- MONDO:0002728(MONDO)
- GARD:7572(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q6743515(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
