Raras
Buscar doenças, sintomas, genes...
Retinoblastoma
ORPHA:790CID-10 · C69.2CID-11 · 2D02.2DOENÇA RARA

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).

Mantido por Agente Raras·Colaborar como especialista →

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).

Pesquisas ativas
27 ensaios
139 total registrados no ClinicalTrials.gov
Publicações científicas
19.281 artigos
Último publicado: 2026 Mar
Medicamentos
4 registrados
FILGRASTIM, ETOPOSIDE, VINCRISTINE SULFATE

Tem tratamento?

4 medicamentos registrados
Ver detalhes, fases e interações →
FILGRASTIMETOPOSIDEVINCRISTINE SULFATEVINCRISTINE

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Antenatal
+ childhood, infancy
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: C69.2
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

👁️
Olhos
10 sintomas
😀
Face
1 sintomas
💪
Músculos
1 sintomas
🦴
Ossos e articulações
1 sintomas
🩸
Sangue
1 sintomas

+ 15 sintomas em outras categorias

Características mais comuns

100%prev.
Retinoblastoma
55%prev.
Proptose
Frequente (79-30%)
55%prev.
Glaucoma
Frequente (79-30%)
55%prev.
Leucocoria
Frequente (79-30%)
55%prev.
Estrabismo
Frequente (79-30%)
55%prev.
Hipópio
Frequente (79-30%)
29sintomas
Muito frequente (1)
Frequente (5)
Ocasional (17)
Muito raro (4)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 características clínicas mais associadas, ordenadas por frequência.

Retinoblastoma
Muito frequente100%
ProptoseProptosis
Frequente (79-30%)55%
Glaucoma
Frequente (79-30%)55%
LeucocoriaLeukocoria
Frequente (79-30%)55%
EstrabismoStrabismus
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico19.281PubMed
Últimos 10 anos200publicações
Pico2026119 papers
Linha do tempo
2026Hoje · 2026🧪 1992Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

RB1Retinoblastoma-associated proteinDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (10)
Cyclin D associated events in G1APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1Oncogene Induced SenescenceInhibition of replication initiation of damaged DNA by RB1/E2F1Positive Regulation of CDH1 Gene Transcription
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
60.6 TPM
Nervo tibial
26.4 TPM
Cervix Ectocervix
24.5 TPM
Pulmão
23.7 TPM
Esôfago - Mucosa
23.7 TPM
OUTRAS DOENÇAS (6)
hereditary retinoblastomaurinary bladder cancerbone osteosarcomasmall cell lung carcinoma
HGNC:9884UniProt:P06400
MYCNN-myc proto-oncogene proteinCandidate gene tested inAltamente restrito
FUNÇÃO

Positively regulates the transcription of MYCNOS in neuroblastoma cells

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (4)
Regulation of CDH1 mRNA translation by microRNAsRegulation of PD-L1(CD274) transcriptionSignaling by ALKTGFBR3 expression
EXPRESSÃO TECIDUAL(Tecido-específico)
Nervo tibial
7.5 TPM
Testículo
6.8 TPM
Brain Spinal cord cervical c-1
5.6 TPM
Tireoide
5.0 TPM
Glândula salivar
4.8 TPM
OUTRAS DOENÇAS (5)
megalencephaly-polydactyly syndromeFeingold syndrome type 1hereditary retinoblastomaneuroblastoma
HGNC:7559UniProt:P04198

Medicamentos e terapias

FILGRASTIMPhase 3

Mecanismo: Granulocyte colony stimulating factor receptor agonist

ETOPOSIDEPhase 3

Mecanismo: DNA topoisomerase II inhibitor

VINCRISTINE SULFATEPhase 3

Mecanismo: Tubulin inhibitor

VINCRISTINEPhase 3

Mecanismo: Tubulin inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

1,434 variantes patogênicas registradas no ClinVar.

🧬 MYCN: NM_005378.6(MYCN):c.411_417delinsTTCCA (p.Arg138fs) ()
🧬 MYCN: NM_005378.6(MYCN):c.867dup (p.Asn290fs) ()
🧬 MYCN: NM_005378.6(MYCN):c.1157A>G (p.His386Arg) ()
🧬 MYCN: NM_005378.6(MYCN):c.558C>A (p.Cys186Ter) ()
🧬 MYCN: NM_005378.6(MYCN):c.167_203del (p.Leu56fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 3,681 variantes classificadas pelo ClinVar.

552
2393
736
Patogênica (15.0%)
VUS (65.0%)
Benigna (20.0%)
VARIANTES MAIS SIGNIFICATIVAS
RB1: NM_000321.3(RB1):c.1029del (p.Gln344fs) [Pathogenic]
RB1: NM_000321.3(RB1):c.1333-2del [Pathogenic]
RB1: NM_000321.3(RB1):c.2326-14T>A [Likely pathogenic]
RB1: NM_000321.3(RB1):c.-74G>A [Uncertain significance]
RB1: NM_000321.3(RB1):c.-124G>C [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 35
2Fase 23
1Fase 13
·Pré-clínico13
Medicamentos catalogadosEnsaios clínicos· 4 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Retinoblastoma

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

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

NCT01109394 · Comprehensive Omics Analysis of Pediatric and Adult Solid Tu…Recrutando
NCT06679634 · Retinoblastoma Phase II Expanded Access Clinical TrialRecrutando
PHASE2
NCT06725173 · Detailed Phenotypic and Genotype Study to Correlate RB1 Muta…Recrutando
NCT04425434 · Therapeutic Recommendations For The Treatment Of Children Wi…Recrutando
NCT05504291 · A Study to Give Treatment Inside the Eye to Treat Retinoblas…Recrutando
PHASE2
NCT03050268 · Familial Investigations of Childhood Cancer PredispositionRecrutando
NCT03267459 · Can Pretreatment MRI be Used to Predict Intra-arterial Chemo…Recrutando
NCT05650749 · GPC2 CAR T Cells for Relapsed or Refractory Neuroblastoma an…Recrutando
PHASE1
NCT04681417 · Ocular Conservative Treatment for Retinoblastoma : Efficacy …Recrutando
PHASE2, PHASE3
NCT03932786 · Studying Health Outcomes After Treatment in Patients With Re…Recrutando
NCT03546387 · Determining Whether Multiple Anesthesia Exposures Affect Cog…Recrutando
NCT06424301 · Targeting NUDT21 siRNA Drugs for Patients With Refractory Re…Recrutando
EARLY_PHASE1
NCT06972602 · High-dose Topotecan for Retinoblastoma With Recurrent or Ref…Recrutando
EARLY_PHASE1
NCT04903678 · Intrathecal Chemotherapy for Central Nervous System Metastas…Recrutando
NA
NCT06367530 · Trilateral Retinoblastoma: Incidence and OutcomesRecrutando
NCT06227962 · Cognitive Functioning and Health Related Quality of Life in …Por convite
NCT03662776 · Effect of Treatment Modality on Psychosocial Functioning of …Por convite
NCT03655223 · Early Check: Expanded Screening in NewbornsPor convite

Outros ensaios clínicos

139 ensaios clínicos encontrados, 27 ativos.

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

📖Melhor nível de evidência: Revisão
Timeline de publicações
5.936 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 5.936

#1

β1,4-galactosyltransferase III drives retinoblastoma invasion via activation of integrin-FAK axis.

Cell death &amp; disease2026 Mar 23

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.

🇧🇷 traduzido
#2

A photoreceptor state links aggressive brain tumors in children.

Cancer cell2026 Mar 19

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.

🇧🇷 traduzido
#3

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 America2026 Mar 24

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.

🇧🇷 traduzido
#4

Understanding the Burden of Care for Children With Pediatric Solid Tumors.

Pediatric blood &amp; cancer2026 Mar 15

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.

🇧🇷 traduzido
#5

Complex Regulation of RETINOBLASTOMA-RELATED's Interactions With E2Fs via Phosphorylation.

Plant, cell &amp; environment2026 Mar 15

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.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC9.676 artigos no totalmostrando 196

2026

Rb expression in metastatic ER-positive breast cancer: implications for precision oncology.

Breast cancer research and treatment
2025

Analysis of cytogenetic germline changes in Polish patients with retinoblastoma.

Molecular vision
2026

β1,4-galactosyltransferase III drives retinoblastoma invasion via activation of integrin-FAK axis.

Cell death &amp; disease
2026

A photoreceptor state links aggressive brain tumors in children.

Cancer cell
2026

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

Heme enhances B-cell proliferation and plasma cell formation through reduced p21 and Rb expression.

Journal of immunology (Baltimore, Md. : 1950)
2026

Diffuse Infiltrating Retinoblastoma in a Posttraumatic Contusion Eyeball in a 7-year-old Filipino Male: A Case Report.

Acta medica Philippina
2026

Understanding the Burden of Care for Children With Pediatric Solid Tumors.

Pediatric blood &amp; cancer
2026

Complex Regulation of RETINOBLASTOMA-RELATED's Interactions With E2Fs via Phosphorylation.

Plant, cell &amp; environment
2026

Nanomicelles in Ocular Drug Delivery: Overcoming Barriers and Enhancing Therapeutic Efficacy.

Current pharmaceutical design
2026

A Rare and Delayed Presentation of Retinoblastoma in an 8-Year-Old Child: A Case Report.

Clinical optometry
2026

[Application of artificial intelligence in pathological diagnosis of ocular tumors].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2026

In vitro evaluation of retinoblastoma seeds using red and green lasers.

Indian journal of ophthalmology
2026

Bilateral Conversion Risk in Unilateral Retinoblastoma Using Age and Genetic Testing.

JAMA ophthalmology
2026

Development of VP30-targeted nanoparticles using DPS4 fusion peptides for the inhibition of Ebola virus.

Journal of nanobiotechnology
2026

TBCRC 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 open
2026

Psychological resilience and its associated factors among parents of children with retinoblastoma: a cross-sectional descriptive study.

Translational pediatrics
2026

Retinal organoid screening reveals ABT-737 and luminespib as potential agents against a cone- precursor-derived subtype of retinoblastoma.

Molecular therapy. Oncology
2026

Saving the Eye, Counting the Cost: Rethinking Treatment Burden in Unilateral Retinoblastoma.

Clinical &amp; experimental ophthalmology
2026

Patient-derived spheroid culture: A promising in vitro model for drug screening in retinoblastoma.

Medical oncology (Northwood, London, England)
2025

The evolving burden of pediatric solid tumors: A global analysis from 1990 to 2021.

Indian journal of cancer
2026

Intraocular Metastasis: Differential Diagnosis and Management.

Clinical &amp; experimental ophthalmology
2026

A tumor-associated photoreceptor signature unifies distinct central nervous system malignancies.

Cancer cell
2026

The R2TP complex stabilises E7 to drive human papillomavirus-mediated pathogenesis in cellular models of cervical cancer.

Virology journal
2026

Retinoblastoma: unveiling molecular pathogenesis and pioneering organoid-driven therapeutic innovations.

Stem cell research &amp; therapy
2026

Spatial analysis of residential location at birth, PFAS in public water, and childhood cancers in Southern California (2000-2019).

Journal of exposure science &amp; environmental epidemiology
2026

CAR-T cell therapy for pediatric solid tumors: armored CAR-T cells and beyond.

Cancer metastasis reviews
2026

Anesthesia exposure in unilateral retinoblastoma-comparison of enucleation and intraarterial chemotherapy.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2026

Expanding the RB1 variant landscape of heritable retinoblastoma: unlocking precision oncology potential in Southern Africa.

BMC cancer
2026

Multifocal 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 Neurosurgery
2026

Long-Term Trends and Disparities Among Cancer Types in Survival for Childhood Cancer: A Population-Based Study in Osaka, Japan, 1976-2015.

JCO global oncology
2026

Hesperidin Enhances Doxorubicin Efficacy by Modulating Apoptosis- and Migration-Associated Processes in Human Retinoblastoma Cells.

Biology
2026

High-throughput screening of drug libraries identifies a new synergistic drug combination for the treatment of retinoblastoma.

PloS one
2026

Exosome-Based Approaches in Regenerative Medicine and Targeted Therapy for Eye Malignancies: A Comprehensive Review.

Eye and brain
2026

Disruption of Signalling Pathways Induced by HBV HBx, HCV Core, and EBV LMP1 in Gastric Cancer.

Reviews in medical virology
2026

Histopathological Risk Features in Primary and Secondary Enucleation for Group D Retinoblastoma: A Clinicopathological Correlation Study.

Cureus
2026

An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.

Human molecular genetics
2026

Internalized stigma among pediatric patients with osteosarcoma and retinoblastoma in Guatemala, Jordan, and Zimbabwe.

Frontiers in oncology
2026

Cognition and Anesthesia Exposure in Adolescent and Young Adult Retinoblastoma Survivors.

Paediatric anaesthesia
2026

Construct Optimization Enables Oncolytic Virus-Mediated Functional Membrane Localization of Calreticulin and Macrophage Reprogramming.

Human gene therapy
2026

Novel, deep intronic RB1 variant exhibiting incomplete penetrance and a parent-of-origin effect.

Ophthalmic genetics
2026

Tuning of the RBR1-E2F/DP transcriptional module by the F-box protein FBL17.

Science advances
2026

Intravenous chemotherapy versus intra-arterial chemotherapy for retinoblastoma.

The Cochrane database of systematic reviews
2026

Senescence markers in peripheral blood mononuclear cells in pediatric drug-resistant epilepsy.

Brain &amp; development
2026

Photodynamic therapy with ring-fused chlorins: a vision-preserving approach for retinoblastoma.

Photochemical &amp; photobiological sciences : Official journal of the European Photochemistry Association and the European Society for Photobiology
2026

Re: 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).

Ophthalmology
2026

Efficacy of intra-arterial chemotherapy across intracranial tumors: A systematic review and meta-analysis.

Critical reviews in oncology/hematology
2026

BRCA 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 cancer
2026

Biomarkers 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 cancer
2026

Smartphone applications for early screening of retinoblastoma: a scoping review.

BMC ophthalmology
2026

HDAC1-modified lamin A/C drives nuclear deformation in RB1-deficient lung adenocarcinoma.

Lung cancer (Amsterdam, Netherlands)
2026

Cellular senescence in cancer: Friend or fraud?

Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy
2026

Cross-national inequalities and public health policy effects of the global retinoblastoma burden from 1990 to 2021 and projections to 2035.

Frontiers in public health
2026

Timely and accurate RB1 genetic testing guides familial risk stratification in heritable retinoblastoma.

Ophthalmic genetics
2026

Concurrent Retinoblastoma 1 (RB1) and IKZF1 Deletions Have Adverse Outcome in Childhood B-Cell Acute Lymphoblastic Leukemia (B-ALL).

International journal of laboratory hematology
2026

Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.

Orphanet journal of rare diseases
2026

Naringin Mitigates Synergistic Brain Aging Model Induced by D-Galactose and Gamma Radiation via Targeting Oxidative Stress, Inflammation and Senescence.

Journal of biochemical and molecular toxicology
2026

Identification and inhibition of the Cyclin D Rb-docking interface that drives cell division.

bioRxiv : the preprint server for biology
2025

Orbital myiasis in neglected orbital retinoblastoma.

The National medical journal of India
2026

[Retinoblastoma in Argentina: study of germline variants of the RB1 gene].

Medicina
2025

Family management characteristics in parents of children with retinoblastoma: a latent profile analysis.

Frontiers in pediatrics
2026

The 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)
2026

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 Strabismus
2026

RB1-I680T mutation potentiates tumor growth and chemotherapy sensitivity in non-small cell lung cancer via derepressing E2F1 transcription.

Cell communication and signaling : CCS
2026

A recently evolved domain of the human ING1 epigenetic regulator targets mitochondria and induces senescence.

Cellular and molecular life sciences : CMLS
2026

Separate transcription and splicing gene networks are linked and coordinated by the pRb-E2F pathway.

Nucleic acids research
2025

Retinoblastoma in times of war: changing patterns of presentation, treatment, and prognosis in Gaza.

Frontiers in oncology
2026

Assessing patient engagement approaches in the development of patient reported outcome measures.

Journal of patient-reported outcomes
2025

Optic Nerve Infiltration in Retinoblastoma: Correlation of Histopathological and MRI Findings in Enucleated Eyes.

Cureus
2026

Nanotherapeutic potential in glaucoma associated ocular cancers.

Discover oncology
2026

Frontiers in Cell-Cycle-Targeting Therapies: Addressing the Heterogeneity of the Cancer Cell Cycle.

Cancers
2026

YTHDC1 modulates the malignant phenotype of retinoblastoma via SQSTM1-mediated autophagy.

Scientific reports
2025

Aflatoxin Mixture-Driven Intrahepatic Cholangiocarcinoma in Rats Involving G1/S Checkpoint Dysregulation.

Toxins
2026

Paeonia lactiflora Callus-Derived Polynucleotides Enhance Collagen Accumulation in Human Dermal Fibroblasts.

Journal of functional biomaterials
2026

Evaluation of the Expression of Small Extracellular Vesicle Markers and Their Cargo in Treatment-Naïve Retinoblastoma Tumor Tissues.

Translational vision science &amp; technology
2026

Fission yeast Whi5 represses MBF-dependent transcription in quiescent cells.

iScience
2025

Urbanization Inequalities on the Incidence of Intraocular Cancers in Iran: An 11-Year Nationwide Retrospective Ecological Study.

Journal of ophthalmic &amp; vision research
2026

Orbital Retinoblastoma: From Palliation to Cure by Sequential Multimodal Multidisciplinary Therapy - A Case Report.

Case reports in oncology
2026

AI-Augmented gamma knife radiosurgery: A precision strategy for retinoblastoma management.

Indian journal of ophthalmology
2026

Highlights From the 2025 Pediatric Oncology East and Mediterranean Biennial Conference: Advancing Pediatric Oncology Across the Eastern Mediterranean.

JCO global oncology
2026

PRR11 as a newly identified oncogenic driver in retinoblastoma.

Science China. Life sciences
2026

The prevalence of unsuspected intraocular malignancy following eye removal.

Eye (London, England)
2025

Transradial versus transfemoral access for pediatric intra-arterial chemotherapy for retinoblastoma.

Journal of neurosurgery. Pediatrics
2025

Adjuvant Chemotherapy in Children With Enucleated Retinoblastoma and Histopathologic High-Risk Features: Survival Outcomes From a Single Institution in a Middle-Income Country.

Cureus
2026

Molecular Landscape of TP53/RB1 Co-Altered Tumors Uncovers Emerging Therapeutic Vulnerabilities.

Genes, chromosomes &amp; cancer
2025

Global initiative for childhood six-indexed cancers: how are we faring in Nigeria?

Ecancermedicalscience
2026

Association between elevated PRIM1 expression and poor prognosis in human urothelial carcinoma.

Journal of Taibah University Medical Sciences
2026

G1/S arrest: a key mechanism of cellular aging and replicative senescence.

Biogerontology
2026

A bird's eye view on potential molecular prognostic markers in retinoblastoma: insights for precision oncology.

Ophthalmic genetics
2026

Aurora Kinases as Potential Therapeutic Targets for Tumors with pRB and/or MYCN Dysregulation.

Current cancer drug targets
2026

NAT10 promotes the glycolysis of retinoblastoma through ac4C modification of PFKFB3 mRNA.

BMC cancer
2026

Longitudinal 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 &amp; disease
2026

Study 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 research
2026

Prospective implementation of an aqueous humor liquid biopsy platform informs clinical diagnosis and management of retinoblastoma and other intraocular lesions.

NPJ precision oncology
2026

Intraocular Medulloepithelioma: A Rare but Important Mimicker of Retinoblastoma.

Ocular oncology and pathology
2026

B7-H3 and GD2 overexpression as immunotherapeutic targets in retinoblastoma.

Scientific reports
2026

The utility of aqueous humor liquid biopsy in retinoblastoma genetic analysis: a systematic review of concordance and influencing factors.

Ophthalmic genetics
2026

Functional footprints of homologous recombination deficiency in prostate cancer revealed by ctDNA fragmentation and transcription factor accessibility.

British journal of cancer
2026

Distinct Regulation of the ARF and TAp73 Tumor Suppressor Genes by the Transcription Factor E2F1 Enables Discrimination of Cancer Cells from Normal Growing Cells.

Cells
2026

Trichosporon inkin meningitis in a pediatric patient diagnosed via metagenomic sequencing.

ASM case reports
2026

Extracellular BRICK1 drives heart repair after myocardial infarction in mice.

Science translational medicine
2026

Meta-Analysis of Non-Blood Liquid Biopsy Specimens: Diagnostic Performance in Cancer Detection.

Diagnostic cytopathology
2026

Generation of RB1 knockout human embryonic stem cell lines derived from H9 using CRISPR/Cas9.

Stem cell research
2025

Depleting CBR1 increases chemosensitivity by reducing stemness and quiescence traits in non-small cell lung cancer.

Journal of Zhejiang University. Science. B
2026

[Characteristics of uterine leiomyosarcoma: a clinicopathological and molecular genetic analysis of twenty-four cases].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2026

Emerging Strategies to Inhibit the G1/S Transition for Cancer Therapy.

Cancer research
2026

Prenatal and postnatal exposure to traffic-related air pollution (TRAP) and childhood cancer: Systematic review and meta-analysis.

Environmental research
2026

Comparative effectiveness and safety of intra-arterial chemotherapy and intravenous chemotherapy for retinoblastoma: A systematic review and meta-analysis.

Survey of ophthalmology
2026

Rbbp7-mediated deacetylation of Acsl4 promotes ovarian aging by enhancing ferroptosis.

International journal of biological macromolecules
2025

Injectable hydrogel-mediated co-delivery of oncolytic adenovirus and melphalan for retinoblastoma control and vision preservation.

Acta pharmaceutica Sinica. B
2025

Severe visual loss and ocular complications after intra-arterial chemotherapy for retinoblastoma.

The British journal of ophthalmology
2025

Adjuvant Chemotherapy in Retinoblastoma with Postlaminar Optic Nerve Invasion: A Global Multicenter Study.

Ophthalmology. Retina
2025

Genetic susceptibility to retinoblastoma: A meta-analysis of single-nucleotide polymorphisms across global populations.

Journal of cancer research and therapeutics
2025

Pseudohypopyon in a Child With Elevated Intraocular Pressure and Progressive Deterioration of Visual Acuity.

Cureus
2025

A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.

Genes
2025

Enhancing cardiomyocyte reprogramming efficiency by targeting cellular senescence is mediated via Rb1 gene.

Stem cell research &amp; therapy
2025

EXOSC3 knockdown induces G1/S phase arrest to suppress hepatocellular carcinoma cell proliferation.

Scientific reports
2026

Ocular neoplasms: Clinical, epidemiological, and histopathological analysis of mutilating procedures in a tertiary care hospital in Mexico.

Archivos de la Sociedad Espanola de Oftalmologia
2025

Therapeutic benefits of maintaining CDK4/6 inhibitors and incorporating CDK2 inhibitors beyond progression in breast cancer.

eLife
2025

Neuro-interventional Radiology in Paediatric Patients: An Update.

Cardiovascular and interventional radiology
2026

Socioeconomic 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)
2026

Factors Associated With Rare Pediatric Cancer Trial Enrollment: A Report From the Children's Oncology Group Rare Tumors Committee.

Pediatric blood &amp; cancer
2025

RPL41 inhibits the proliferation and migration of retinoblastoma through the ARL5B-associated lysosomal trafficking.

Frontiers in immunology
2026

[Retinal detachment visible to the naked eye in a child with retinoblastoma].

Journal francais d'ophtalmologie
2025

Factors associated with mortality among retinoblastoma patients in Malaysia: A retrospective cohort study.

The Medical journal of Malaysia
2025

Rb1 deficiency induces synthetic lethality with ATR and PKMYT1 coinhibition in breast cancer cell lines and patient-derived xenografts.

Science translational medicine
2025

Loss of ELF2 drives topotecan resistance in retinoblastoma revealed by genome-wide CRISPR-Cas9 screening.

Cell death &amp; disease
2025

The Role of RB1 and Secondary Genomic Changes in the Development of Spindle Cell and Pleomorphic Lipomas.

Genes, chromosomes &amp; cancer
2025

YAP1 dysfunction promotes molecular properties linked to breast cancer susceptibility.

Cancer prevention research (Philadelphia, Pa.)
2025

Treating metastatic extraocular retinoblastoma complicated with Langerhans cell histiocytosis.

GMS ophthalmology cases
2025

HPV-driven inflammatory pathways in ovarian carcinogenesis: molecular mechanisms and emerging therapeutic interventions.

Journal of ovarian research
2026

Clinical Implications of Aberrant Retinoblastoma Signaling in Patients With Grade 4 IDH-Mutant Astrocytoma: A Retrospective Cohort Study.

Neurology
2026

RB dependent transcriptional regulation at mitotic centromeres preserves genome stability.

Life science alliance
2026

Aurora Kinases in Ocular Malignancies: Functional Significance and Potential Implications.

Ocular oncology and pathology
2026

Retinoblastoma outcomes in Europe: a prospective analysis of 483 patients from 40 countries.

Eye (London, England)
2025

Pathogenic variants in affected and unaffected individuals from Indonesian familial cancer: a multigene panel analysis.

Scientific reports
2025

Retinocytoma: Clinical and Genetic Characteristics in 16 Pediatric and Adult Cases.

Ocular oncology and pathology
2026

Paediatric Neoplastic Uveitis Masquerade Syndromes.

Ocular immunology and inflammation
2025

Benchmarking nazionale della sopravvivenza per stadio alla diagnosi dei tumori infantili in Italia (BENCHISTA-ITA): protocollo di studio.

Epidemiologia e prevenzione
2026

RB1 inactivation in cutaneous carcinomas.

Histopathology
2025

Combined Hamartoma of the Retina and Retinal Pigment Epithelium: A Literature Review and Case Series.

Cureus
2025

Terminalagin, a New Ellagitannin from Kakadu Plum (Terminalia ferdinandiana).

Chemical &amp; pharmaceutical bulletin
2025

CDK4/6 inhibition reprograms the breast cancer immunopeptidome via Rb-dependent chromatin and transcriptomic remodeling.

Cell reports
2025

Coordinated changes in stromal and hematopoietic cells that define the perinatal to juvenile transition in the mouse thymus.

Cell reports
2025

The 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 mutagenesis
2026

Preoperative MRA for Patients with Retinoblastoma Undergoing Intra-Arterial Chemotherapy.

AJNR. American journal of neuroradiology
2025

A rare case of conjunctival hibernoma in a von Hippel-Lindau (VHL) patient: Possible association?

European journal of ophthalmology
2025

The 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)
2025

Palladium-103 plaque radiation therapy for retinal angioma.

American journal of ophthalmology case reports
2025

Persistent Hyperplastic Primary Vitreous With Complete Retinal Detachment in an Infant: Imaging Characteristics and Clinical Management.

Cureus
2025

Linking Megalin, Cubilin, Caveolin-1, GIPC1 and Dab2IP Expression to Ocular Tumorigenesis: Profiles in Retinoblastoma, Choroidal Melanoma, and the Normal Human Eye.

Cancers
2025

Genomic Characteristics of Bladder Cancer: An AACR Project GENIE Study.

International journal of molecular sciences
2025

Childhood 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 oncology
2025

Indocyanine green-enhanced transpupillary thermotherapy in treatment of retinoblastoma: Experience in Indian eyes.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2025

Malignant Craniofacial Perivascular Epithelioid Cell Tumor: A Review of Literature With a Rare Presentation.

Head &amp; neck
2025

Descriptive and molecular analysis of pineal parenchymal tumors with clinical correlation.

BMC cancer
2026

Selenium-binding protein 1 suppresses cell cycle progression via cyclin-dependent kinase 2 breakdown in colon carcinoma.

Cellular signalling
2025

Nationwide trends in childhood cancer incidence and survival in Iran: analysis of national cancer registry data, 2005-2014.

BMC pediatrics
2025

Blastemal Tumours: Cytological Features and the Usefulness of Fine Needle Aspiration.

Acta cytologica
2025

Targeting MCM6 Enhances Melphalan Chemosensitivity in Retinoblastoma by Modulating DNA Damage Response.

Investigative ophthalmology &amp; visual science
2025

Unveiling the Hidden Threat: Late-Onset Retinoblastoma Mimicking Pars Planitis.

Journal of current ophthalmology
2025

Metabolic Reprogramming in Retinoblastoma Patients: Treatment Naïve Active Retinoblastoma Versus Regressed Tumors Post-Treatment.

Investigative ophthalmology &amp; visual science
2025

The Prevalence of Refractive Errors Among Children With Cured Retinoblastoma.

Journal of pediatric ophthalmology and strabismus
2025

A 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 endocrinology
2025

Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers.

BMJ medicine
2026

In Vitro Stability and Preclinical Safety Evaluation of High-Dose Intravitreal Topotecan in Rabbits: Impact of Dose and Concentration.

Ophthalmology science
2025

Redox-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 technology
2026

Photoelectrical control of apoptosis and autophagy.

Biophysical reports
2025

MiR-106b-5p promotes gastric cancer progression by directly targeting the tumor suppressor RBL2.

Scientific reports
2026

Evidence for Wnt/β-Catenin-Activated Rosette-Forming Carcinoma Arising in Rb-Inactivated Bowen Disease.

Journal of cutaneous pathology
2026

Association Between Maternal Cervical Human Papillomavirus Infection and Non-familial Retinoblastoma in Children: A Case-Control Study.

Indian journal of pediatrics
2025

Harnessing the E3 ligase SPOP for targeted degradation of the NUP98::KDM5A fusion oncoprotein.

Cell reports
2025

Subsequent Primary Hematologic Malignancies in a 21-Year-Old Retinoblastoma Survivor: Case Report Study.

Cancer reports (Hoboken, N.J.)
2025

RB1 Sequence Variants in Retinoblastoma: Analysis of RB1 Variants in a Database for Correlation with pRB Protein Domains and Clinical Presentation.

Biomedicines
2025

Decreased PPM1B Expression Drives PRMT5-Mediated Histone Modification in Lung Cancer Progression.

Biomolecules
2025

Status of and factors influencing paternal fatigue in children with retinoblastoma: a cross-sectional study.

BMC cancer
2025

Possible TLR-mediated immunostimulatory effect of Palbociclib in breast cancer.

Molecular biology reports
2025

Clinical and pathological predictors of high risk histopathological features in retinoblastoma: Analysis of 236 eyes.

European journal of ophthalmology
2025

Advances in Serum-Free Suspension Culture Technology for Animal Cells and Their Applications.

Vaccines
2025

Role of the Interplay Between Autophagy and Cell Senescence in the Pathogenesis and Therapeutics of Glioblastoma in the Aging Population.

Cells
2025

The 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 biology
2025

Iron Deficiency Impairs Muscle Stem Cell Proliferation and Skeletal Muscle Regeneration via HIF-2α Stabilization.

Journal of cachexia, sarcopenia and muscle
2025

Anticancer activity of MDM2 inhibition in 2D and bioprinted 3D retinoblastoma cell models.

Frontiers in pharmacology
2025

MSH6 gene methylation on clinical pathology and diagnosis in retinoblastoma: a bioinformatics analysis.

International journal of ophthalmology
2025

Retinoblastoma management in China: clinical challenges.

International journal of ophthalmology
2025

Analysis of prognosis and quality of life in children with retinoblastoma.

International journal of ophthalmology
2025

Loss of KDM5A-mediated H3K4me3 demethylation promotes aberrant neural development by Wnt/β-catenin pathway activation.

Cell death &amp; disease
2025

Pediatric teleophthalmology screening: a scoping review of global evidence and implications for Canada.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2025

Tumor 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)
2026

The Burden of Treatment for Sporadic Unilateral Retinoblastoma in Australia.

Clinical &amp; experimental ophthalmology
2025

The Role of Artesunate in Cancer Management: Mechanisms of Biomedical Effects and Toxicology.

The American journal of Chinese medicine
2025

Assessment of leachables in hospital pharmacy compounded topotecan conditioned in common off-label syringes for intravitreal use.

Scientific reports
2025

Prenatal PM2.5 exposure impairs hippocampal synaptic development in offspring via KDM5A-mediated epigenetic derepression of Pin1.

Ecotoxicology and environmental safety
2026

The apparent diffusion coefficient as a potential radiological biomarker of malignant transformation in retinoblastoma: a case report.

Pediatric radiology
2025

At the epicentre: a qualitative study of how parents of a child with de novo retinoblastoma experience the diagnostic process and primary treatment.

BMJ open
2026

Retinoblastoma 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, Inc
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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. &#x3b2;1,4-galactosyltransferase III drives retinoblastoma invasion via activation of integrin-FAK axis.
    Cell death &amp; disease· 2026· PMID 41866544mais citado
  2. A photoreceptor state links aggressive brain tumors in children.
    Cancer cell· 2026· PMID 41861823mais citado
  3. 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
  4. Understanding the Burden of Care for Children With Pediatric Solid Tumors.
    Pediatric blood &amp; cancer· 2026· PMID 41834186mais citado
  5. Complex Regulation of RETINOBLASTOMA-RELATED's Interactions With E2Fs via Phosphorylation.
    Plant, cell &amp; environment· 2026· PMID 41833547mais citado
  6. Recurrent Bronchospasm During Intra-arterial Chemotherapy via IMAX Access for Retinoblastoma: A Case Report.
    Cureus· 2026· PMID 41994791recente
  7. Optic disc and peripapillary tumors.
    Taiwan J Ophthalmol· 2026· PMID 41993661recente
  8. Stem cell control in the lung by an autocrine injury-activated Igf complex.
    Science· 2026· PMID 41990161recente
  9. Intra-Arterial Chemotherapy for Advanced Intraocular Retinoblastoma….
    Cardiovasc Intervent Radiol· 2026· PMID 41984109recente
  10. Reframing RB Tumor Suppressor Dysfunction as a Therapeutic Vulnerability in Cancer.
    Cancers (Basel)· 2026· PMID 41976397recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:790(Orphanet)
  2. MONDO:0008380(MONDO)
  3. GARD:7563(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. 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

Retinoblastoma
Compêndio · Raras BR

Retinoblastoma

ORPHA:790 · MONDO:0008380
Prevalência
Unknown
Herança
Autosomal dominant, Not applicable
CID-10
C69.2 · Neoplasia maligna da retina
CID-11
Ensaios
27 ativos
Medicamentos
4 registrados
Início
Antenatal, Childhood, Infancy
Prevalência
0.0 (Europe)
MedGen
UMLS
C0035335
Repurposing
1 candidato
cyclophosphamideDNA alkylating agent
EuropePMC
Wikidata
Wikipedia
Papers 10a
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