É um tipo de câncer que começa nas células da retina, a parte do olho responsável por captar a luz. Embora seja o câncer de olho mais comum em crianças, o retinoblastoma ainda é relativamente raro, representando apenas 1% de todos os cânceres em pacientes pediátricos (crianças e adolescentes). Cerca de 95% dos casos são diagnosticados antes dos 5 anos de idade. Esses tumores podem aparecer em vários pontos (multifocais), nos dois olhos (bilaterais), ser presentes desde o nascimento (congênitos), herdados (passados de pais para filhos) ou adquiridos (que se desenvolvem ao longo da vida). Setenta e cinco por cento dos retinoblastomas afetam apenas um olho; 60% ocorrem de forma espontânea, sem causa aparente ou herança familiar. Uma predisposição (maior chance) para ter retinoblastoma tem sido associada a alterações genéticas (anormalidades cromossômicas) no cromossomo 13, na região q14. Pacientes com a forma herdada do câncer também parecem ter um risco maior de desenvolver outros tipos de câncer fora do olho, como osteossarcoma (câncer nos ossos), histiocitoma fibroso maligno e fibrossarcoma (ambos tipos de câncer que afetam tecidos moles).
Introdução
O que você precisa saber de cara
É um tipo de câncer que começa nas células da retina, a parte do olho responsável por captar a luz. Embora seja o câncer de olho mais comum em crianças, o retinoblastoma ainda é relativamente raro, representando apenas 1% de todos os cânceres em pacientes pediátricos (crianças e adolescentes). Cerca de 95% dos casos são diagnosticados antes dos 5 anos de idade. Esses tumores podem aparecer em vários pontos (multifocais), nos dois olhos (bilaterais), ser presentes desde o nascimento (congênitos), herdados (passados de pais para filhos) ou adquiridos (que se desenvolvem ao longo da vida). Setenta e cinco por cento dos retinoblastomas afetam apenas um olho; 60% ocorrem de forma espontânea, sem causa aparente ou herança familiar. Uma predisposição (maior chance) para ter retinoblastoma tem sido associada a alterações genéticas (anormalidades cromossômicas) no cromossomo 13, na região q14. Pacientes com a forma herdada do câncer também parecem ter um risco maior de desenvolver outros tipos de câncer fora do olho, como osteossarcoma (câncer nos ossos), histiocitoma fibroso maligno e fibrossarcoma (ambos tipos de câncer que afetam tecidos moles).
Tem tratamento?
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
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 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: Autosomal dominant, Not applicable.
Tumor suppressor that is a key regulator of the G1/S transition of the cell cycle (PubMed:10499802). The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes (PubMed:10499802). Both physically blocks E2Fs transactivating domain and recruits chromatin-modifying enzymes that actively repress transcription (PubMed:10499802). Cyclin and CDK-dependent phosphorylation of RB1 induces its dissociation from E2Fs, thereby activating tra
NucleusCytoplasm
Childhood cancer retinoblastoma
Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated.
Positively regulates the transcription of MYCNOS in neuroblastoma cells
Nucleus
Medicamentos e terapias
Mecanismo: Granulocyte colony stimulating factor receptor agonist
Mecanismo: DNA topoisomerase II inhibitor
Mecanismo: Tubulin inhibitor
Mecanismo: Tubulin inhibitor
Variantes genéticas (ClinVar)
1,434 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3,681 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
22 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 — Retinoblastoma
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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
18 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
139 ensaios clínicos encontrados, 27 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 5.936
β1,4-galactosyltransferase III drives retinoblastoma invasion via activation of integrin-FAK axis.
O retinoblastoma, câncer ocular infantil, torna-se grave quando há invasão e extensão para fora do olho. Este estudo identificou a proteína B4GALT3 como um fator chave que impulsiona essa invasão, ao ativar vias que promovem a proliferação e a quebra de barreiras celulares. A inibição de B4GALT3, por exemplo com o composto mircosídeo, suprimiu a malignidade do tumor em testes, sugerindo uma nova e promissora estratégia terapêutica para retinoblastomas avançados.
🇧🇷 traduzidoA photoreceptor state links aggressive brain tumors in children.
Este artigo revela que o retinoblastoma, juntamente com certos tumores cerebrais agressivos em crianças (como o meduloblastoma do Grupo 3 e o pineoblastoma), compartilham uma característica comum ligada a células fotorreceptoras imaturas. Isso sugere que estas são doenças decorrentes de vulnerabilidades comuns durante o desenvolvimento inicial. Mais importante, essa descoberta identifica mecanismos biológicos compartilhados que podem levar ao desenvolvimento de novas e mais eficazes opções terapêuticas para todos esses tumores.
🇧🇷 traduzidoSynthetic lethality between RB-loss and E2F3 inhibition in small cell cancers targeted by pyrimidine synthesis blockade.
Este artigo revela que carcinomas de pequenas células, que frequentemente apresentam a perda da proteína RB (uma ocorrência comum e ligada ao Retinoblastoma), dependem criticamente do fator de transcrição E2F3 para a sua proliferação. Essa dependência representa uma "letalidade sintética", ou seja, a inibição de E2F3 (direta ou indireta, como pelo bloqueio da síntese de pirimidinas) demonstrou impedir o crescimento tumoral. Isso sugere uma promissora estratégia de tratamento para diversos cânceres que compartilham a perda da função de RB, oferecendo um novo alvo para terapias.
🇧🇷 traduzidoUnderstanding the Burden of Care for Children With Pediatric Solid Tumors.
Este estudo destaca que o tratamento de tumores sólidos pediátricos, incluindo o retinoblastoma, impõe uma carga substancial e multidimensional às famílias. Além dos custos médicos diretos, as crianças passam muitos dias em tratamento (média de 54 dias no primeiro ano), e as famílias enfrentam altos custos de viagem e perda significativa de renda (aproximadamente 21% do rendimento familiar). Estas dificuldades são ampliadas em casos de doença avançada, sublinhando a necessidade de modelos de cuidado descentralizados e políticas de apoio para aliviar o estresse logístico e financeiro para pacientes e seus cuidadores.
🇧🇷 traduzidoComplex Regulation of RETINOBLASTOMA-RELATED's Interactions With E2Fs via Phosphorylation.
Este estudo em plantas (Arabidopsis) investiga a proteína RBR, homóloga da proteína RB1 humana (associada ao Retinoblastoma), e descobriu que uma fosforilação múltipla específica (incluindo o sítio 911S) impede a RBR de se ligar aos fatores E2F, que promovem a proliferação celular. Em vez disso, essa forma fosforilada da RBR interage com proteínas envolvidas na regulação pós-transcricional, sugerindo um papel na transição de crescimento para quiescência sob estresse. Embora o estudo seja em plantas, ele oferece insights fundamentais sobre como mecanismos de fosforilação regulam o ciclo celular, o que pode informar a compreensão da função da proteína RB1 e, indiretamente, de doenças como o Retinoblastoma humano, onde a sua regulação está comprometida.
🇧🇷 traduzidoPublicações recentes
Recurrent Bronchospasm During Intra-arterial Chemotherapy via IMAX Access for Retinoblastoma: A Case Report.
Optic disc and peripapillary tumors.
Stem cell control in the lung by an autocrine injury-activated Igf complex.
Intra-Arterial Chemotherapy for Advanced Intraocular Retinoblastoma….
🥉 Relato de casoReframing RB Tumor Suppressor Dysfunction as a Therapeutic Vulnerability in Cancer.
📖 Revisão📚 EuropePMC9.676 artigos no totalmostrando 196
Rb expression in metastatic ER-positive breast cancer: implications for precision oncology.
Breast cancer research and treatmentAnalysis of cytogenetic germline changes in Polish patients with retinoblastoma.
Molecular visionβ1,4-galactosyltransferase III drives retinoblastoma invasion via activation of integrin-FAK axis.
Cell death & diseaseA photoreceptor state links aggressive brain tumors in children.
Cancer cellSynthetic lethality between RB-loss and E2F3 inhibition in small cell cancers targeted by pyrimidine synthesis blockade.
Proceedings of the National Academy of Sciences of the United States of AmericaHeme enhances B-cell proliferation and plasma cell formation through reduced p21 and Rb expression.
Journal of immunology (Baltimore, Md. : 1950)Diffuse Infiltrating Retinoblastoma in a Posttraumatic Contusion Eyeball in a 7-year-old Filipino Male: A Case Report.
Acta medica PhilippinaUnderstanding the Burden of Care for Children With Pediatric Solid Tumors.
Pediatric blood & cancerComplex Regulation of RETINOBLASTOMA-RELATED's Interactions With E2Fs via Phosphorylation.
Plant, cell & environmentNanomicelles in Ocular Drug Delivery: Overcoming Barriers and Enhancing Therapeutic Efficacy.
Current pharmaceutical designA Rare and Delayed Presentation of Retinoblastoma in an 8-Year-Old Child: A Case Report.
Clinical optometry[Application of artificial intelligence in pathological diagnosis of ocular tumors].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyIn vitro evaluation of retinoblastoma seeds using red and green lasers.
Indian journal of ophthalmologyBilateral Conversion Risk in Unilateral Retinoblastoma Using Age and Genetic Testing.
JAMA ophthalmologyDevelopment of VP30-targeted nanoparticles using DPS4 fusion peptides for the inhibition of Ebola virus.
Journal of nanobiotechnologyTBCRC 035: randomized phase II pharmacodynamic study of standard and reduced-dose palbociclib with endocrine therapy in hormone receptor (HR)-positive previously treated metastatic breast cancer.
ESMO openPsychological resilience and its associated factors among parents of children with retinoblastoma: a cross-sectional descriptive study.
Translational pediatricsRetinal organoid screening reveals ABT-737 and luminespib as potential agents against a cone- precursor-derived subtype of retinoblastoma.
Molecular therapy. OncologySaving the Eye, Counting the Cost: Rethinking Treatment Burden in Unilateral Retinoblastoma.
Clinical & experimental ophthalmologyPatient-derived spheroid culture: A promising in vitro model for drug screening in retinoblastoma.
Medical oncology (Northwood, London, England)The evolving burden of pediatric solid tumors: A global analysis from 1990 to 2021.
Indian journal of cancerIntraocular Metastasis: Differential Diagnosis and Management.
Clinical & experimental ophthalmologyA tumor-associated photoreceptor signature unifies distinct central nervous system malignancies.
Cancer cellThe R2TP complex stabilises E7 to drive human papillomavirus-mediated pathogenesis in cellular models of cervical cancer.
Virology journalRetinoblastoma: unveiling molecular pathogenesis and pioneering organoid-driven therapeutic innovations.
Stem cell research & therapySpatial analysis of residential location at birth, PFAS in public water, and childhood cancers in Southern California (2000-2019).
Journal of exposure science & environmental epidemiologyCAR-T cell therapy for pediatric solid tumors: armored CAR-T cells and beyond.
Cancer metastasis reviewsAnesthesia exposure in unilateral retinoblastoma-comparison of enucleation and intraarterial chemotherapy.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusExpanding the RB1 variant landscape of heritable retinoblastoma: unlocking precision oncology potential in Southern Africa.
BMC cancerMultifocal cerebral and orbital neoplastic lesions in a 2-year-old child: a case report and literature review emphasizing diagnostic uncertainty and ethical decision-making.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryLong-Term Trends and Disparities Among Cancer Types in Survival for Childhood Cancer: A Population-Based Study in Osaka, Japan, 1976-2015.
JCO global oncologyHesperidin Enhances Doxorubicin Efficacy by Modulating Apoptosis- and Migration-Associated Processes in Human Retinoblastoma Cells.
BiologyHigh-throughput screening of drug libraries identifies a new synergistic drug combination for the treatment of retinoblastoma.
PloS oneExosome-Based Approaches in Regenerative Medicine and Targeted Therapy for Eye Malignancies: A Comprehensive Review.
Eye and brainDisruption of Signalling Pathways Induced by HBV HBx, HCV Core, and EBV LMP1 in Gastric Cancer.
Reviews in medical virologyHistopathological Risk Features in Primary and Secondary Enucleation for Group D Retinoblastoma: A Clinicopathological Correlation Study.
CureusAn Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.
Human molecular geneticsInternalized stigma among pediatric patients with osteosarcoma and retinoblastoma in Guatemala, Jordan, and Zimbabwe.
Frontiers in oncologyCognition and Anesthesia Exposure in Adolescent and Young Adult Retinoblastoma Survivors.
Paediatric anaesthesiaConstruct Optimization Enables Oncolytic Virus-Mediated Functional Membrane Localization of Calreticulin and Macrophage Reprogramming.
Human gene therapyNovel, deep intronic RB1 variant exhibiting incomplete penetrance and a parent-of-origin effect.
Ophthalmic geneticsTuning of the RBR1-E2F/DP transcriptional module by the F-box protein FBL17.
Science advancesIntravenous chemotherapy versus intra-arterial chemotherapy for retinoblastoma.
The Cochrane database of systematic reviewsSenescence markers in peripheral blood mononuclear cells in pediatric drug-resistant epilepsy.
Brain & developmentPhotodynamic therapy with ring-fused chlorins: a vision-preserving approach for retinoblastoma.
Photochemical & photobiological sciences : Official journal of the European Photochemistry Association and the European Society for PhotobiologyRe: Badalova et al.: At what age could screening for familial retinoblastoma be stopped? Revised Dutch Retrospective Population-based Cohort Study, 1991-2019 (Ophthalmology. 2025;132:1152-1160).
OphthalmologyEfficacy of intra-arterial chemotherapy across intracranial tumors: A systematic review and meta-analysis.
Critical reviews in oncology/hematologyBRCA and CDK4/6: allies or antagonists?-efficacy of CDK4/6 inhibitors in HR+/HER2- breast cancer with germline BRCA1/2 mutations: a narrative review.
Translational breast cancer research : a journal focusing on translational research in breast cancerBiomarkers of primary and secondary resistance to cyclin dependent kinases 4 and 6 inhibitors in metastatic estrogen receptor-positive/human epidermal growth factor receptor 2-negative breast cancer: a narrative review.
Translational breast cancer research : a journal focusing on translational research in breast cancerSmartphone applications for early screening of retinoblastoma: a scoping review.
BMC ophthalmologyHDAC1-modified lamin A/C drives nuclear deformation in RB1-deficient lung adenocarcinoma.
Lung cancer (Amsterdam, Netherlands)Cellular senescence in cancer: Friend or fraud?
Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapyCross-national inequalities and public health policy effects of the global retinoblastoma burden from 1990 to 2021 and projections to 2035.
Frontiers in public healthTimely and accurate RB1 genetic testing guides familial risk stratification in heritable retinoblastoma.
Ophthalmic geneticsConcurrent Retinoblastoma 1 (RB1) and IKZF1 Deletions Have Adverse Outcome in Childhood B-Cell Acute Lymphoblastic Leukemia (B-ALL).
International journal of laboratory hematologyUnraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.
Orphanet journal of rare diseasesNaringin Mitigates Synergistic Brain Aging Model Induced by D-Galactose and Gamma Radiation via Targeting Oxidative Stress, Inflammation and Senescence.
Journal of biochemical and molecular toxicologyIdentification and inhibition of the Cyclin D Rb-docking interface that drives cell division.
bioRxiv : the preprint server for biologyOrbital myiasis in neglected orbital retinoblastoma.
The National medical journal of India[Retinoblastoma in Argentina: study of germline variants of the RB1 gene].
MedicinaFamily management characteristics in parents of children with retinoblastoma: a latent profile analysis.
Frontiers in pediatricsThe disparity and trend of childhood cancer burden in survival perspective: a systematic analysis for the global burden of disease 2021.
International journal of surgery (London, England)The role of enucleation in the development of nystagmus in children with retinoblastoma.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusRB1-I680T mutation potentiates tumor growth and chemotherapy sensitivity in non-small cell lung cancer via derepressing E2F1 transcription.
Cell communication and signaling : CCSA recently evolved domain of the human ING1 epigenetic regulator targets mitochondria and induces senescence.
Cellular and molecular life sciences : CMLSSeparate transcription and splicing gene networks are linked and coordinated by the pRb-E2F pathway.
Nucleic acids researchRetinoblastoma in times of war: changing patterns of presentation, treatment, and prognosis in Gaza.
Frontiers in oncologyAssessing patient engagement approaches in the development of patient reported outcome measures.
Journal of patient-reported outcomesOptic Nerve Infiltration in Retinoblastoma: Correlation of Histopathological and MRI Findings in Enucleated Eyes.
CureusNanotherapeutic potential in glaucoma associated ocular cancers.
Discover oncologyFrontiers in Cell-Cycle-Targeting Therapies: Addressing the Heterogeneity of the Cancer Cell Cycle.
CancersYTHDC1 modulates the malignant phenotype of retinoblastoma via SQSTM1-mediated autophagy.
Scientific reportsAflatoxin Mixture-Driven Intrahepatic Cholangiocarcinoma in Rats Involving G1/S Checkpoint Dysregulation.
ToxinsPaeonia lactiflora Callus-Derived Polynucleotides Enhance Collagen Accumulation in Human Dermal Fibroblasts.
Journal of functional biomaterialsEvaluation of the Expression of Small Extracellular Vesicle Markers and Their Cargo in Treatment-Naïve Retinoblastoma Tumor Tissues.
Translational vision science & technologyFission yeast Whi5 represses MBF-dependent transcription in quiescent cells.
iScienceUrbanization Inequalities on the Incidence of Intraocular Cancers in Iran: An 11-Year Nationwide Retrospective Ecological Study.
Journal of ophthalmic & vision researchOrbital Retinoblastoma: From Palliation to Cure by Sequential Multimodal Multidisciplinary Therapy - A Case Report.
Case reports in oncologyAI-Augmented gamma knife radiosurgery: A precision strategy for retinoblastoma management.
Indian journal of ophthalmologyHighlights From the 2025 Pediatric Oncology East and Mediterranean Biennial Conference: Advancing Pediatric Oncology Across the Eastern Mediterranean.
JCO global oncologyPRR11 as a newly identified oncogenic driver in retinoblastoma.
Science China. Life sciencesThe prevalence of unsuspected intraocular malignancy following eye removal.
Eye (London, England)Transradial versus transfemoral access for pediatric intra-arterial chemotherapy for retinoblastoma.
Journal of neurosurgery. PediatricsAdjuvant Chemotherapy in Children With Enucleated Retinoblastoma and Histopathologic High-Risk Features: Survival Outcomes From a Single Institution in a Middle-Income Country.
CureusMolecular Landscape of TP53/RB1 Co-Altered Tumors Uncovers Emerging Therapeutic Vulnerabilities.
Genes, chromosomes & cancerGlobal initiative for childhood six-indexed cancers: how are we faring in Nigeria?
EcancermedicalscienceAssociation between elevated PRIM1 expression and poor prognosis in human urothelial carcinoma.
Journal of Taibah University Medical SciencesG1/S arrest: a key mechanism of cellular aging and replicative senescence.
BiogerontologyA bird's eye view on potential molecular prognostic markers in retinoblastoma: insights for precision oncology.
Ophthalmic geneticsAurora Kinases as Potential Therapeutic Targets for Tumors with pRB and/or MYCN Dysregulation.
Current cancer drug targetsNAT10 promotes the glycolysis of retinoblastoma through ac4C modification of PFKFB3 mRNA.
BMC cancerLongitudinal analysis of retinal cell state transitions in RB1-deficient retinal organoids reveals the nascent cone precursors are the earliest cell-origin of human retinoblastoma.
Cell death & diseaseStudy on epigenetic regulatory mechanism of MBD4 with a germline loss-of-function mutation (rs140693) responsible for retinoblastoma chemoresistance via the cell cycle and apoptotic pathways.
Pharmacological researchProspective implementation of an aqueous humor liquid biopsy platform informs clinical diagnosis and management of retinoblastoma and other intraocular lesions.
NPJ precision oncologyIntraocular Medulloepithelioma: A Rare but Important Mimicker of Retinoblastoma.
Ocular oncology and pathologyB7-H3 and GD2 overexpression as immunotherapeutic targets in retinoblastoma.
Scientific reportsThe utility of aqueous humor liquid biopsy in retinoblastoma genetic analysis: a systematic review of concordance and influencing factors.
Ophthalmic geneticsFunctional footprints of homologous recombination deficiency in prostate cancer revealed by ctDNA fragmentation and transcription factor accessibility.
British journal of cancerDistinct Regulation of the ARF and TAp73 Tumor Suppressor Genes by the Transcription Factor E2F1 Enables Discrimination of Cancer Cells from Normal Growing Cells.
CellsTrichosporon inkin meningitis in a pediatric patient diagnosed via metagenomic sequencing.
ASM case reportsExtracellular BRICK1 drives heart repair after myocardial infarction in mice.
Science translational medicineMeta-Analysis of Non-Blood Liquid Biopsy Specimens: Diagnostic Performance in Cancer Detection.
Diagnostic cytopathologyGeneration of RB1 knockout human embryonic stem cell lines derived from H9 using CRISPR/Cas9.
Stem cell researchDepleting CBR1 increases chemosensitivity by reducing stemness and quiescence traits in non-small cell lung cancer.
Journal of Zhejiang University. Science. B[Characteristics of uterine leiomyosarcoma: a clinicopathological and molecular genetic analysis of twenty-four cases].
Zhonghua bing li xue za zhi = Chinese journal of pathologyEmerging Strategies to Inhibit the G1/S Transition for Cancer Therapy.
Cancer researchPrenatal and postnatal exposure to traffic-related air pollution (TRAP) and childhood cancer: Systematic review and meta-analysis.
Environmental researchComparative effectiveness and safety of intra-arterial chemotherapy and intravenous chemotherapy for retinoblastoma: A systematic review and meta-analysis.
Survey of ophthalmologyRbbp7-mediated deacetylation of Acsl4 promotes ovarian aging by enhancing ferroptosis.
International journal of biological macromoleculesInjectable hydrogel-mediated co-delivery of oncolytic adenovirus and melphalan for retinoblastoma control and vision preservation.
Acta pharmaceutica Sinica. BSevere visual loss and ocular complications after intra-arterial chemotherapy for retinoblastoma.
The British journal of ophthalmologyAdjuvant Chemotherapy in Retinoblastoma with Postlaminar Optic Nerve Invasion: A Global Multicenter Study.
Ophthalmology. RetinaGenetic susceptibility to retinoblastoma: A meta-analysis of single-nucleotide polymorphisms across global populations.
Journal of cancer research and therapeuticsPseudohypopyon in a Child With Elevated Intraocular Pressure and Progressive Deterioration of Visual Acuity.
CureusA Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.
GenesEnhancing cardiomyocyte reprogramming efficiency by targeting cellular senescence is mediated via Rb1 gene.
Stem cell research & therapyEXOSC3 knockdown induces G1/S phase arrest to suppress hepatocellular carcinoma cell proliferation.
Scientific reportsOcular neoplasms: Clinical, epidemiological, and histopathological analysis of mutilating procedures in a tertiary care hospital in Mexico.
Archivos de la Sociedad Espanola de OftalmologiaTherapeutic benefits of maintaining CDK4/6 inhibitors and incorporating CDK2 inhibitors beyond progression in breast cancer.
eLifeNeuro-interventional Radiology in Paediatric Patients: An Update.
Cardiovascular and interventional radiologySocioeconomic inequalities in cancer survival and access to health care among children and adolescents in China, 2018-24: a prospective nationwide cohort study.
Lancet (London, England)Factors Associated With Rare Pediatric Cancer Trial Enrollment: A Report From the Children's Oncology Group Rare Tumors Committee.
Pediatric blood & cancerRPL41 inhibits the proliferation and migration of retinoblastoma through the ARL5B-associated lysosomal trafficking.
Frontiers in immunology[Retinal detachment visible to the naked eye in a child with retinoblastoma].
Journal francais d'ophtalmologieFactors associated with mortality among retinoblastoma patients in Malaysia: A retrospective cohort study.
The Medical journal of MalaysiaRb1 deficiency induces synthetic lethality with ATR and PKMYT1 coinhibition in breast cancer cell lines and patient-derived xenografts.
Science translational medicineLoss of ELF2 drives topotecan resistance in retinoblastoma revealed by genome-wide CRISPR-Cas9 screening.
Cell death & diseaseThe Role of RB1 and Secondary Genomic Changes in the Development of Spindle Cell and Pleomorphic Lipomas.
Genes, chromosomes & cancerYAP1 dysfunction promotes molecular properties linked to breast cancer susceptibility.
Cancer prevention research (Philadelphia, Pa.)Treating metastatic extraocular retinoblastoma complicated with Langerhans cell histiocytosis.
GMS ophthalmology casesHPV-driven inflammatory pathways in ovarian carcinogenesis: molecular mechanisms and emerging therapeutic interventions.
Journal of ovarian researchClinical Implications of Aberrant Retinoblastoma Signaling in Patients With Grade 4 IDH-Mutant Astrocytoma: A Retrospective Cohort Study.
NeurologyRB dependent transcriptional regulation at mitotic centromeres preserves genome stability.
Life science allianceAurora Kinases in Ocular Malignancies: Functional Significance and Potential Implications.
Ocular oncology and pathologyRetinoblastoma outcomes in Europe: a prospective analysis of 483 patients from 40 countries.
Eye (London, England)Pathogenic variants in affected and unaffected individuals from Indonesian familial cancer: a multigene panel analysis.
Scientific reportsRetinocytoma: Clinical and Genetic Characteristics in 16 Pediatric and Adult Cases.
Ocular oncology and pathologyPaediatric Neoplastic Uveitis Masquerade Syndromes.
Ocular immunology and inflammationBenchmarking nazionale della sopravvivenza per stadio alla diagnosi dei tumori infantili in Italia (BENCHISTA-ITA): protocollo di studio.
Epidemiologia e prevenzioneRB1 inactivation in cutaneous carcinomas.
HistopathologyCombined Hamartoma of the Retina and Retinal Pigment Epithelium: A Literature Review and Case Series.
CureusTerminalagin, a New Ellagitannin from Kakadu Plum (Terminalia ferdinandiana).
Chemical & pharmaceutical bulletinCDK4/6 inhibition reprograms the breast cancer immunopeptidome via Rb-dependent chromatin and transcriptomic remodeling.
Cell reportsCoordinated changes in stromal and hematopoietic cells that define the perinatal to juvenile transition in the mouse thymus.
Cell reportsThe potential implications of dysregulated DNA damage repair genes and their modulators as adjuvants for current chemotherapy regimens in Retinoblastoma tumors.
Mutation research. Genetic toxicology and environmental mutagenesisPreoperative MRA for Patients with Retinoblastoma Undergoing Intra-Arterial Chemotherapy.
AJNR. American journal of neuroradiologyA rare case of conjunctival hibernoma in a von Hippel-Lindau (VHL) patient: Possible association?
European journal of ophthalmologyThe potential effects of the synergistic interaction between ferulic acid and new generation CDK inhibitor anti-neoplastic drugs on breast cancer anti-tumour activity.
Medical oncology (Northwood, London, England)Palladium-103 plaque radiation therapy for retinal angioma.
American journal of ophthalmology case reportsPersistent Hyperplastic Primary Vitreous With Complete Retinal Detachment in an Infant: Imaging Characteristics and Clinical Management.
CureusLinking Megalin, Cubilin, Caveolin-1, GIPC1 and Dab2IP Expression to Ocular Tumorigenesis: Profiles in Retinoblastoma, Choroidal Melanoma, and the Normal Human Eye.
CancersGenomic Characteristics of Bladder Cancer: An AACR Project GENIE Study.
International journal of molecular sciencesChildhood cancer survival in low- and middle-income countries and the Global South: emerging evidence and critical gaps from a scoping review of observational studies.
EJC paediatric oncologyIndocyanine green-enhanced transpupillary thermotherapy in treatment of retinoblastoma: Experience in Indian eyes.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyMalignant Craniofacial Perivascular Epithelioid Cell Tumor: A Review of Literature With a Rare Presentation.
Head & neckDescriptive and molecular analysis of pineal parenchymal tumors with clinical correlation.
BMC cancerSelenium-binding protein 1 suppresses cell cycle progression via cyclin-dependent kinase 2 breakdown in colon carcinoma.
Cellular signallingNationwide trends in childhood cancer incidence and survival in Iran: analysis of national cancer registry data, 2005-2014.
BMC pediatricsBlastemal Tumours: Cytological Features and the Usefulness of Fine Needle Aspiration.
Acta cytologicaTargeting MCM6 Enhances Melphalan Chemosensitivity in Retinoblastoma by Modulating DNA Damage Response.
Investigative ophthalmology & visual scienceUnveiling the Hidden Threat: Late-Onset Retinoblastoma Mimicking Pars Planitis.
Journal of current ophthalmologyMetabolic Reprogramming in Retinoblastoma Patients: Treatment Naïve Active Retinoblastoma Versus Regressed Tumors Post-Treatment.
Investigative ophthalmology & visual scienceThe Prevalence of Refractive Errors Among Children With Cured Retinoblastoma.
Journal of pediatric ophthalmology and strabismusA case-based review of urachal carcinoma with mixed small cell neuroendocrine and adenocarcinoma components, with one new case report and analysis of nine published cases.
Frontiers in endocrinologyChallenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers.
BMJ medicineIn Vitro Stability and Preclinical Safety Evaluation of High-Dose Intravitreal Topotecan in Rabbits: Impact of Dose and Concentration.
Ophthalmology scienceRedox-responsive palbociclib-loaded self-assembled protein nanoparticles in breast cancer therapy-quality by design approach and efficacy assessment in 2D and 3D in vitro culture systems.
Pharmaceutical development and technologyPhotoelectrical control of apoptosis and autophagy.
Biophysical reportsMiR-106b-5p promotes gastric cancer progression by directly targeting the tumor suppressor RBL2.
Scientific reportsEvidence for Wnt/β-Catenin-Activated Rosette-Forming Carcinoma Arising in Rb-Inactivated Bowen Disease.
Journal of cutaneous pathologyAssociation Between Maternal Cervical Human Papillomavirus Infection and Non-familial Retinoblastoma in Children: A Case-Control Study.
Indian journal of pediatricsHarnessing the E3 ligase SPOP for targeted degradation of the NUP98::KDM5A fusion oncoprotein.
Cell reportsSubsequent Primary Hematologic Malignancies in a 21-Year-Old Retinoblastoma Survivor: Case Report Study.
Cancer reports (Hoboken, N.J.)RB1 Sequence Variants in Retinoblastoma: Analysis of RB1 Variants in a Database for Correlation with pRB Protein Domains and Clinical Presentation.
BiomedicinesDecreased PPM1B Expression Drives PRMT5-Mediated Histone Modification in Lung Cancer Progression.
BiomoleculesStatus of and factors influencing paternal fatigue in children with retinoblastoma: a cross-sectional study.
BMC cancerPossible TLR-mediated immunostimulatory effect of Palbociclib in breast cancer.
Molecular biology reportsClinical and pathological predictors of high risk histopathological features in retinoblastoma: Analysis of 236 eyes.
European journal of ophthalmologyAdvances in Serum-Free Suspension Culture Technology for Animal Cells and Their Applications.
VaccinesRole of the Interplay Between Autophagy and Cell Senescence in the Pathogenesis and Therapeutics of Glioblastoma in the Aging Population.
CellsThe non-kinase function of CDK6 is a key driver of acquired resistance to CDK4/6 inhibitors in Estrogen Receptor-positive breast cancer.
bioRxiv : the preprint server for biologyIron Deficiency Impairs Muscle Stem Cell Proliferation and Skeletal Muscle Regeneration via HIF-2α Stabilization.
Journal of cachexia, sarcopenia and muscleAnticancer activity of MDM2 inhibition in 2D and bioprinted 3D retinoblastoma cell models.
Frontiers in pharmacologyMSH6 gene methylation on clinical pathology and diagnosis in retinoblastoma: a bioinformatics analysis.
International journal of ophthalmologyRetinoblastoma management in China: clinical challenges.
International journal of ophthalmologyAnalysis of prognosis and quality of life in children with retinoblastoma.
International journal of ophthalmologyLoss of KDM5A-mediated H3K4me3 demethylation promotes aberrant neural development by Wnt/β-catenin pathway activation.
Cell death & diseasePediatric teleophthalmology screening: a scoping review of global evidence and implications for Canada.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieTumor heterogeneity involving SCLC with a single exon deletion in RB1 and adenocarcinoma with EGFR-L718V mutation in EGFR-TKI-resistant lung cancer.
Lung cancer (Amsterdam, Netherlands)The Burden of Treatment for Sporadic Unilateral Retinoblastoma in Australia.
Clinical & experimental ophthalmologyThe Role of Artesunate in Cancer Management: Mechanisms of Biomedical Effects and Toxicology.
The American journal of Chinese medicineAssessment of leachables in hospital pharmacy compounded topotecan conditioned in common off-label syringes for intravitreal use.
Scientific reportsPrenatal PM2.5 exposure impairs hippocampal synaptic development in offspring via KDM5A-mediated epigenetic derepression of Pin1.
Ecotoxicology and environmental safetyThe apparent diffusion coefficient as a potential radiological biomarker of malignant transformation in retinoblastoma: a case report.
Pediatric radiologyAt the epicentre: a qualitative study of how parents of a child with de novo retinoblastoma experience the diagnostic process and primary treatment.
BMJ openRetinoblastoma Protein Loss in p53 Abnormal Endometrial Carcinoma Is Associated With Poor Clinical Outcomes in a Canadian Cohort.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncAssociações
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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.
- β1,4-galactosyltransferase III drives retinoblastoma invasion via activation of integrin-FAK axis.
- A photoreceptor state links aggressive brain tumors in children.
- Synthetic lethality between RB-loss and E2F3 inhibition in small cell cancers targeted by pyrimidine synthesis blockade.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41860961mais citado
- Understanding the Burden of Care for Children With Pediatric Solid Tumors.
- Complex Regulation of RETINOBLASTOMA-RELATED's Interactions With E2Fs via Phosphorylation.
- Recurrent Bronchospasm During Intra-arterial Chemotherapy via IMAX Access for Retinoblastoma: A Case Report.
- Optic disc and peripapillary tumors.
- Stem cell control in the lung by an autocrine injury-activated Igf complex.
- Intra-Arterial Chemotherapy for Advanced Intraocular Retinoblastoma….
- Reframing RB Tumor Suppressor Dysfunction as a Therapeutic Vulnerability in Cancer.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:790(Orphanet)
- MONDO:0008380(MONDO)
- GARD:7563(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q500695(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
