A síndrome de Treacher Collins é uma doença genética caracterizada por deformidades craniofaciais, que afeta o desenvolvimento de estruturas geradas a partir do primeiro e segundo arcos branquiais durante a sétima semana de gestação, período no qual os ossos da face estão em formação e a interferência nos genes codificadores dessas estruturas pode ocorrer. É uma anomalia rara, com incidência de 1:40000 a 1:70000 nascidos vivos.
Introdução
O que você precisa saber de cara
Neoplasia rara de origem no tecido neuroepitelial embrionário, apresentando-se como um tumor agressivo com potencial de metástase. O diagnóstico e tratamento precoces são cruciais para o prognóstico.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Tumor embrionário do tecido neuroepitelial
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Intrauterine-diagnosed fetal intracranial adamantinomatous craniopharyngioma: A case report with histopathological and molecular characterization.
Craniopharyngiomas are the most common non-neuroepithelial intracerebral neoplasms in children but rarely occur before birth, and are typically associated with a poor prognosis. We present the case of a 39-year-old woman with a spontaneously conceived singleton pregnancy. At 20 weeks of gestation, ultrasound detected a 44×25 mm heterogeneously hyperechogenic intracranial mass located at the base of the sphenoid bone, extending bilaterally. Due to the poor prognosis, legal pregnancy termination was performed, followed by fetal autopsy. The 20-week-old male fetus weighed 528g. External examination revealed only macrocephaly. Internal evaluation identified a yellowish, heterogeneous suprasellar mass. Histological analysis showed squamous epithelium with peripheral palisading, stellate reticulum, wet keratin, and calcifications-features consistent with adamantinomatous craniopharyngioma. Tumor cells were immunoreactive for high- and low- to intermediate molecular weight cytokeratins and SOX9, while no pituitary hormones or neuroendocrine markers were expressed. Next-generation sequencing of tumor tissue revealed a pathogenic somatic CTNNB1 mutation (c.121A>G, p.Thr41Ala), with no BRAF p.Val600Glu mutation and no germline variants detected. No extracranial abnormalities were observed. This case supports the inclusion of adamantinomatous craniopharyngioma in the differential diagnosis of congenital sellar and suprasellar masses despite its rarity. The identification of a somatic CTNNB1 mutation aligns with findings in postnatally diagnosed cases. Thorough histopathologic and molecular characterization is essential to guide prenatal counseling and improve management of affected fetuses and newborns.
Case Report: A patient with cardiac rhabdomyoma associated with embryonal developmental dysplasia of neuroepithelial tumors, presenting with recurrent cyanosis of the face and lips.
Cardiac rhabdomyoma is a benign cardiac tumor predominantly found in children and is often associated with tuberous sclerosis. Typically, this tumor is asymptomatic; however, its size and location can compromise cardiac function, potentially leading to heart failure, which may manifest as cyanosis of the lips and respiratory difficulties. Embryonal dysplastic neuroepithelial tumor is a slow-growing benign brain tumor classified as a neuroepithelial tissue tumor. It typically does not undergo malignant transformation and originates from the cerebral cortex. The concurrent occurrence of cardiac rhabdomyoma and embryonal dysplastic neuroepithelial tumor, manifesting as facial and perioral cyanosis, is relatively uncommon in pediatric patients. We present a case of a 4-year-and-4-month-old boy who was admitted for "recurrent facial and perioral cyanosis over the past year". Prenatal four-dimensional ultrasound revealed strong echogenic foci within the ventricles, suggesting the presence of a cardiac rhabdomyoma. One year prior to admission, the child experienced recurrent episodes of facial and perioral cyanosis. Considering his medical history, the admission diagnosis was left ventricular outflow tract obstruction due to the cardiac rhabdomyoma. However, following a systematic evaluation and investigation, the definitive cause of the "facial and perioral cyanosis" was determined to be an embryonal dysplastic neuroepithelial tumor. The child subsequently underwent tumor resection, and pathological examination confirmed the preoperative diagnosis. Postoperatively, the child has remained free of facial and perioral cyanosis for over two years. The concurrent occurrence of cardiac rhabdomyoma and embryonal dysplastic neuroepithelial tumor is exceedingly rare. Clinicians must exercise caution when evaluating the etiology of a child's symptoms. This case emphasizes the necessity of increasing clinicians' awareness of this rare concomitant occurrence and highlights the vital role of timely diagnosis and surgical intervention in enhancing patient outcomes.
Metachronous tumour (DNET and haemorrhagic chiasmal tumour) in a patient with encephalocraniocutaneous syndrome (ECCL).
Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous multisystem disorder affecting ectodermal and mesodermal tissues, including the eyes, skin, adipose tissue and the brain. It is hypothesised to be a neural crest disorder. While ECCL presents with various neurological features, the occurrence of brain tumour is an extremely rare association. Here, we report a case of metachronous tumours comprising a dysembryoplastic neuroepithelial tumour (DNET) and a haemorrhagic chiasmal tumour in a patient with ECCL. To the best of our knowledge, this is the first documented case of ECCL presenting with subarachnoid haemorrhage (SAH) in the suprasellar region due to a tumorous bleed. A woman in her mid-20s presented with a sudden onset headache and altered sensorium. Non-contrast CT of the brain showed a focal bleed in the suprasellar region with gyriform cortical calcification in the left temporoparietal lobe and left optic globe calcification. Digital subtraction angiography was inconclusive. MRI of the brain showed intracranial and intraspinal lipomas with changes suggestive of previous surgery in the left temporal lobe. A focal bleed was noticed in the optic chiasm and pial angiomas in the left temporoparietal lobe. The patient had a history of a left temporal arachnoid cyst and dysplastic left temporal lobe, for which she underwent a left temporal lobectomy to manage drug-refractory epilepsy. Histopathological examination of the resected tissue revealed a DNET with focal cortical dysplasia. The diagnosis of ECCL was established, with associated metachronous tumours identified at multiple locations in the brain. The presence of a metachronous tumour in a patient with ECCL is a rare occurrence. Hence, clinicians should maintain a high index of suspicion and ensure that such patients are monitored through long-term follow-up, with regular screening to facilitate the early detection of a second tumour.
Biopsy and laser ablation as a treatment strategy for pediatric brain incidentalomas.
To evaluate a combined biopsy-ablation procedure as an early intervention in small brain incidentalomas. Patient selection criteria included lesion in deep location, lesion growing over time, and lesion over 1 cm but less than 1.5 cm in diameter. Four patients underwent robotic-assisted stereotaxic biopsy followed by laser interstitial thermal therapy (LITT). Patients were then followed with MRI over time. At time of operation, patients' age was between 10 and 16 years. Biopsy revealed pilocytic astrocytoma (n = 2) and dysembryonic neuroepithelial tumor (DNET), and one specimen was indeterminate for pathological changes. Imaging follow-up was between 17 and 72 months. None of the lesions showed progression on repeat MRI. Based on published data, it can be expected that roughly 20% of small incidentalomas will grow on repeat imaging, with higher rates in patients with tumor syndromes such as neurofibromatosis. Early intervention via biopsy and ablation in selected cases can provide tissue diagnosis, alleviate family anxieties, and potentially prevent future morbidity in these patients with enlarging lesions.
Literature review: CAR T-cell therapy as a promising immunotherapeutic approach for medulloblastoma.
Medulloblastoma (MB) accounts for approximately 20-25% of all childhood brain tumours and 63% of intracranial embryonic tumours, with an annual incidence of around 5 cases per million in the paediatric population. This high-grade neuroepithelial tumour of the posterior fossa can develop at any age during childhood, adolescence and even adulthood, often spreading via cerebrospinal fluid. While most MB cases are sporadic, they can be associated with genetic predisposition syndromes. Although these genetic mutations present potential therapeutic targets, the limited number of mutations and few existing therapies aimed at these neoantigens pose significant challenges. Despite aggressive multimodal treatment approaches, approximately 30% of patients ultimately succumb to MB, and survivors frequently face long-term side effects that severely impact their quality of life. MB harbours unique molecular factors, necessitating careful consideration of therapeutic targets such as the blood-brain barrier, tumour microenvironment, and the differing responses of cancer stem cells versus bulk tumour tissue. Conventional treatment typically involves maximal safe resection, risk-adapted chemotherapy, and/or radiation craniospinal irradiation. While there is general agreement on the benefits of chemotherapy for MB patients, adverse side effects remain prevalent, underscoring the need for alternative therapeutic strategies. Given the heterogeneous nature of MBs and the lack of salvage treatment, immunotherapy has emerged as a promising novel treatment avenue. This personalized approach aims to enhance specificity and potentially reduce side effects. Among these innovative methods, adoptive cell therapy, particularly chimeric antigen receptor T (CAR T) cell therapy, shows great promise. This review will explore the potential of CAR T-cell therapies in targeting MB, building on their successful application in other solid tumours.
Publicações recentes
DMRTA2 Regulates Radial Glial Maintenance and Tumorigenicity of Paediatric High-Grade Glioma.
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Placental small extracellular vesicles as modulators of bisphenol A-induced oxidative stress and mitochondrial activation in human astrocytoma cells (U-373 MG).
Current treatment strategies for first relapse of high-risk neuroblastoma.
📚 EuropePMCmostrando 112
Biopsy and laser ablation as a treatment strategy for pediatric brain incidentalomas.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCase Report: A patient with cardiac rhabdomyoma associated with embryonal developmental dysplasia of neuroepithelial tumors, presenting with recurrent cyanosis of the face and lips.
Frontiers in pediatricsIntrauterine-diagnosed fetal intracranial adamantinomatous craniopharyngioma: A case report with histopathological and molecular characterization.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsLiterature review: CAR T-cell therapy as a promising immunotherapeutic approach for medulloblastoma.
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The British journal of radiologyAssessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing.
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The European journal of neuroscienceAge at epilepsy onset in patients with focal cortical dysplasias, gangliogliomas and dysembryoplastic neuroepithelial tumours.
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Seizure[Diagnostic potential of optical coherence tomography for small choroidal melanomas].
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Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncCytologic features of papillary tumor of the pineal region: A case report showing tigroid background.
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Diagnostic pathologyPsychiatric comorbidity in temporal DNET and improvement after surgery.
Neuro-ChirurgiePediatric central nervous system tumors: review of a single Portuguese institution.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[MRI-characteristics of epileptogenic supratentorial brain tumors in children].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaMalignant Transformation of a Dysembryoplastic Neuroepithelial Tumor (DNET) Characterized by Genome-Wide Methylation Analysis.
Journal of neuropathology and experimental neurology[Clinicopathologic features of embryonal tumor with multilayered rosettes and gene analysis on chromosome 19q13.42].
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Acta neuropathologica communicationsRapid immunocytochemistry based on alternating current electric field using squash smear preparation of central nervous system tumors.
Brain tumor pathologyGliomatosis cerebri: no evidence for a separate brain tumor entity.
Acta neuropathologicaHistologically distinct neuroepithelial tumors with histone 3 G34 mutation are molecularly similar and comprise a single nosologic entity.
Acta neuropathologicaINSM1: A Novel Immunohistochemical and Molecular Marker for Neuroendocrine and Neuroepithelial Neoplasms.
American journal of clinical pathologyUse of preoperative FLAIR MRI and ependymal proximity of tumor enhancement as surrogate markers of brain tumor origin.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia"Unusual brain stone": heavily calcified primary neoplasm with some features suggestive of angiocentric glioma.
Journal of neurosurgeryNanostructured lipid carriers based temozolomide and gene co-encapsulated nanomedicine for gliomatosis cerebri combination therapy.
Drug deliverySuprasellar chordoid neoplasm with expression of thyroid transcription factor 1: evidence that chordoid glioma of the third ventricle and pituicytoma may form part of a spectrum of lineage-related tumors of the basal forebrain.
Human pathologyExpression profiles of 151 pediatric low-grade gliomas reveal molecular differences associated with location and histological subtype.
Neuro-oncologyUsefulness of (11)C-Methionine PET in differential diagnosis of epileptogenic brain neoplasms.
Revista espanola de medicina nuclear e imagen molecularOvarian immature teratoma with gliomatosis peritonei and pleural glial implant: a case report.
International journal of surgical pathologyAssociações
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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.
- Intrauterine-diagnosed fetal intracranial adamantinomatous craniopharyngioma: A case report with histopathological and molecular characterization.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics· 2026· PMID 40879146mais citado
- Case Report: A patient with cardiac rhabdomyoma associated with embryonal developmental dysplasia of neuroepithelial tumors, presenting with recurrent cyanosis of the face and lips.
- Metachronous tumour (DNET and haemorrhagic chiasmal tumour) in a patient with encephalocraniocutaneous syndrome (ECCL).
- Biopsy and laser ablation as a treatment strategy for pediatric brain incidentalomas.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2025· PMID 41396212mais citado
- Literature review: CAR T-cell therapy as a promising immunotherapeutic approach for medulloblastoma.
- DMRTA2 Regulates Radial Glial Maintenance and Tumorigenicity of Paediatric High-Grade Glioma.
- Ribosomal modifications are associated with mesenchymal fate selection in the neural crest lineage.
- Primary CNS Neuroblastoma, FOXR2-Activated: Clinicopathological Study of Two Cases With Immunohistochemical Characterization and Literature Review.
- Placental small extracellular vesicles as modulators of bisphenol A-induced oxidative stress and mitochondrial activation in human astrocytoma cells (U-373 MG).
- Current treatment strategies for first relapse of high-risk neuroblastoma.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:251852(Orphanet)
- MONDO:0016708(MONDO)
- Busca completa no PubMed(PubMed)
- Q55786381(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
