{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Protéine SMARCB1 : Questions médicales les plus fréquentes",
"headline": "Protéine SMARCB1 : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Protéine SMARCB1 : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-06-01",
"dateModified": "2025-02-26",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Protéine SMARCB1"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Facteurs de transcription",
"url": "https://questionsmedicales.fr/mesh/D014157",
"about": {
"@type": "MedicalCondition",
"name": "Facteurs de transcription",
"code": {
"@type": "MedicalCode",
"code": "D014157",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D12.776.930"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "Protéine SMARCB1",
"alternateName": "SMARCB1 Protein",
"code": {
"@type": "MedicalCode",
"code": "D000071796",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Susanne Bens",
"url": "https://questionsmedicales.fr/author/Susanne%20Bens",
"affiliation": {
"@type": "Organization",
"name": "Department of Clinical Neurosciences, Division of Neurosurgery, University of Calgary, Canada."
}
},
{
"@type": "Person",
"name": "Martin Hasselblatt",
"url": "https://questionsmedicales.fr/author/Martin%20Hasselblatt",
"affiliation": {
"@type": "Organization",
"name": "Department of Clinical Neurosciences, Division of Neurosurgery, University of Calgary, Canada."
}
},
{
"@type": "Person",
"name": "Snjezana Dogan",
"url": "https://questionsmedicales.fr/author/Snjezana%20Dogan",
"affiliation": {
"@type": "Organization",
"name": "Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA. Electronic address: dogans@mskcc.org."
}
},
{
"@type": "Person",
"name": "Pavlos Msaouel",
"url": "https://questionsmedicales.fr/author/Pavlos%20Msaouel",
"affiliation": {
"@type": "Organization",
"name": "Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77025."
}
},
{
"@type": "Person",
"name": "Florian Oyen",
"url": "https://questionsmedicales.fr/author/Florian%20Oyen",
"affiliation": {
"@type": "Organization",
"name": "Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Guided Growth to Treat Anterolateral Tibial Bowing Associated with Congenital Pseudarthrosis of the Tibia.",
"datePublished": "2024-04-09",
"url": "https://questionsmedicales.fr/article/38835290",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1097/BPO.0000000000002683"
}
},
{
"@type": "ScholarlyArticle",
"name": "Periprosthetic giant cell tumour of the tibia: en bloc resection and megaprosthesis revision.",
"datePublished": "2024-06-13",
"url": "https://questionsmedicales.fr/article/38871637",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1136/bcr-2024-260631"
}
},
{
"@type": "ScholarlyArticle",
"name": "Does Fibular Displacement Predict Tibial Malrotation in Simulated Tibia-Fibula Fractures.",
"datePublished": "2023-10-16",
"url": "https://questionsmedicales.fr/article/37850972",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.5435/JAAOS-D-23-00043"
}
},
{
"@type": "ScholarlyArticle",
"name": "Iatrogenic Flexion-Related Classic Metaphyseal Lesion of the Distal Tibia: Three Cases.",
"datePublished": "2023-06-26",
"url": "https://questionsmedicales.fr/article/37813736",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.jemermed.2023.06.014"
}
},
{
"@type": "ScholarlyArticle",
"name": "Efficacy of Postoperative Radiographs After Intramedullary Nailing of the Tibia and Femur: When Are They Useful?",
"datePublished": "2023-06-06",
"url": "https://questionsmedicales.fr/article/37285510",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.5435/JAAOSGlobal-D-23-00069"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Acides aminés, peptides et protéines",
"item": "https://questionsmedicales.fr/mesh/D000602"
},
{
"@type": "ListItem",
"position": 3,
"name": "Protéines",
"item": "https://questionsmedicales.fr/mesh/D011506"
},
{
"@type": "ListItem",
"position": 4,
"name": "Facteurs de transcription",
"item": "https://questionsmedicales.fr/mesh/D014157"
},
{
"@type": "ListItem",
"position": 5,
"name": "Protéine SMARCB1",
"item": "https://questionsmedicales.fr/mesh/D000071796"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Protéine SMARCB1 - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Protéine SMARCB1",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-13",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Protéine SMARCB1",
"description": "Comment diagnostiquer une anomalie de SMARCB1 ?\nQuels tests sont utilisés pour détecter SMARCB1 ?\nQuels signes cliniques indiquent une mutation de SMARCB1 ?\nLa biopsie est-elle nécessaire pour le diagnostic ?\nQuels spécialistes sont impliqués dans le diagnostic ?",
"url": "https://questionsmedicales.fr/mesh/D000071796?mesh_terms=Tibia&page=3#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Protéine SMARCB1",
"description": "Quels sont les symptômes des tumeurs liées à SMARCB1 ?\nLes symptômes varient selon le type de cancer ?\nY a-t-il des symptômes précoces de la maladie ?\nLes enfants sont-ils plus touchés par ces symptômes ?\nComment les symptômes évoluent-ils avec le temps ?",
"url": "https://questionsmedicales.fr/mesh/D000071796?mesh_terms=Tibia&page=3#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Protéine SMARCB1",
"description": "Peut-on prévenir les mutations de SMARCB1 ?\nY a-t-il des tests de dépistage recommandés ?\nLes antécédents familiaux influencent-ils le risque ?\nDes conseils de mode de vie peuvent-ils aider ?\nLes vaccinations peuvent-elles prévenir les cancers ?",
"url": "https://questionsmedicales.fr/mesh/D000071796?mesh_terms=Tibia&page=3#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Protéine SMARCB1",
"description": "Quels traitements sont disponibles pour les tumeurs SMARCB1 ?\nLa thérapie ciblée est-elle efficace contre SMARCB1 ?\nQuel est le rôle de la chimiothérapie ?\nLes traitements sont-ils différents chez les enfants ?\nY a-t-il des effets secondaires des traitements ?",
"url": "https://questionsmedicales.fr/mesh/D000071796?mesh_terms=Tibia&page=3#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Protéine SMARCB1",
"description": "Quelles complications peuvent survenir avec SMARCB1 ?\nLes complications sont-elles réversibles ?\nComment gérer les complications liées au traitement ?\nLes complications affectent-elles la qualité de vie ?\nY a-t-il des complications spécifiques aux enfants ?",
"url": "https://questionsmedicales.fr/mesh/D000071796?mesh_terms=Tibia&page=3#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Protéine SMARCB1",
"description": "Quels sont les facteurs de risque pour SMARCB1 ?\nL'environnement joue-t-il un rôle dans le risque ?\nLes enfants sont-ils plus à risque ?\nLes facteurs de risque sont-ils modifiables ?\nY a-t-il des tests pour évaluer le risque ?",
"url": "https://questionsmedicales.fr/mesh/D000071796?mesh_terms=Tibia&page=3#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostiquer une anomalie de SMARCB1 ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic se fait par analyse génétique et biopsie tumorale."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour détecter SMARCB1 ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests incluent le séquençage de l'ADN et l'immunohistochimie."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques indiquent une mutation de SMARCB1 ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tumeurs rhabdoïdes, des douleurs abdominales ou des masses palpables peuvent indiquer une mutation."
}
},
{
"@type": "Question",
"name": "La biopsie est-elle nécessaire pour le diagnostic ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la biopsie est souvent nécessaire pour confirmer la présence de mutations SMARCB1."
}
},
{
"@type": "Question",
"name": "Quels spécialistes sont impliqués dans le diagnostic ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les oncologues, généticiens et pathologistes sont généralement impliqués."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes des tumeurs liées à SMARCB1 ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des douleurs, des masses, et des troubles neurologiques selon la localisation."
}
},
{
"@type": "Question",
"name": "Les symptômes varient selon le type de cancer ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes dépendent du type de cancer associé à la mutation SMARCB1."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes précoces de la maladie ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes précoces peuvent être vagues, comme la fatigue ou des douleurs légères."
}
},
{
"@type": "Question",
"name": "Les enfants sont-ils plus touchés par ces symptômes ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tumeurs rhabdoïdes affectent principalement les enfants, souvent avec des symptômes aigus."
}
},
{
"@type": "Question",
"name": "Comment les symptômes évoluent-ils avec le temps ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes peuvent s'aggraver rapidement, nécessitant une attention médicale urgente."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les mutations de SMARCB1 ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de méthode prouvée pour prévenir ces mutations."
}
},
{
"@type": "Question",
"name": "Y a-t-il des tests de dépistage recommandés ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests génétiques peuvent être recommandés pour les familles à risque."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils le risque ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux de cancers peuvent augmenter le risque de mutations SMARCB1."
}
},
{
"@type": "Question",
"name": "Des conseils de mode de vie peuvent-ils aider ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie sain peut réduire le risque global de cancer, mais pas spécifiquement pour SMARCB1."
}
},
{
"@type": "Question",
"name": "Les vaccinations peuvent-elles prévenir les cancers ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines vaccinations peuvent prévenir des cancers, mais pas ceux liés à SMARCB1."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour les tumeurs SMARCB1 ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la chirurgie, la chimiothérapie et la radiothérapie."
}
},
{
"@type": "Question",
"name": "La thérapie ciblée est-elle efficace contre SMARCB1 ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des recherches sont en cours sur les thérapies ciblées, mais leur efficacité varie."
}
},
{
"@type": "Question",
"name": "Quel est le rôle de la chimiothérapie ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "La chimiothérapie vise à réduire la taille des tumeurs et à prévenir la récidive."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils différents chez les enfants ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les traitements peuvent être adaptés en fonction de l'âge et de la santé de l'enfant."
}
},
{
"@type": "Question",
"name": "Y a-t-il des effets secondaires des traitements ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les effets secondaires peuvent inclure nausées, fatigue et immunosuppression."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec SMARCB1 ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent la progression tumorale, la métastase et des effets secondaires des traitements."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
},
{
"@type": "Question",
"name": "Comment gérer les complications liées au traitement ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion des complications nécessite un suivi médical régulier et des soins symptomatiques."
}
},
{
"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement affecter la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Y a-t-il des complications spécifiques aux enfants ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les enfants peuvent éprouver des complications uniques liées à leur développement."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour SMARCB1 ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des mutations génétiques et l'âge."
}
},
{
"@type": "Question",
"name": "L'environnement joue-t-il un rôle dans le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs environnementaux peuvent influencer le risque, mais leur impact est encore étudié."
}
},
{
"@type": "Question",
"name": "Les enfants sont-ils plus à risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les enfants sont plus susceptibles de développer des tumeurs liées à SMARCB1."
}
},
{
"@type": "Question",
"name": "Les facteurs de risque sont-ils modifiables ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains facteurs de risque, comme le mode de vie, peuvent être modifiés pour réduire le risque."
}
},
{
"@type": "Question",
"name": "Y a-t-il des tests pour évaluer le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests génétiques peuvent aider à évaluer le risque de mutations SMARCB1."
}
}
]
}
]
}
Anterolateral tibial bowing associated with congenital tibial pseudarthrosis occurs often in patients with neurofibromatosis type 1 and results from the inability of the fractured bone to unite, leadi...
This report describes the management of 3 patients with anterolateral tibial bowing and NF1 who underwent distal tibia-guided growth....
The patients had an average age of 1.6 years at initial operation, with a total of 3 to 4 surgeries over an average of 2.1 years. The latest follow-up on all patients is included, at a mean of 5.1 yea...
Our study indicates that guided growth can serve as an additional surgical option to improve ALTB and potentially reduce the risk of fracture and pseudarthrosis by restoring normal mechanical alignmen...
Level-IV, Case Series....
We present a case detailing the diagnosis and management of a periprosthetic giant cell tumour in a female patient in her 70s, who had undergone total knee arthroplasty (TKA) for primary osteoarthriti...
Tibial malrotation can occur with medullary nailing of diaphyseal tibial fractures. Fibular alignment has been proposed as a surrogate for axial plane reduction intraoperatively. The purpose of this s...
Deidentified CT scans of 50 patients with normal tibial anatomy were selected. Using ImageJ software, we simulated osteotomies at three sites (proximal third, mid-diaphysis, and distal third). We over...
A total of 50 patients were included. The mean age was 62 years, average BMI was 25.8, and 28 of 50 patients (56%) were male. Earliest loss of fibular contact occurred at 24° ER and 22° IR at the prox...
Surgeons should be aware that 20° or more of malrotation is likely present when fibular contact is lost during medullary nailing of the tibia. Greater than 50% loss of contact should raise suspicion f...
Classic metaphyseal lesions (CMLs) should raise concern for nonaccidental trauma. However, iatrogenic causes for CMLs have increasingly been described and warrant close consideration. Increasing the c...
We describe three clinical cases where suspected iatrogenic dorsiflexion or plantar flexion resulted in an isolated distal tibia CML. Respectively, we present heel-stick testing and i.v. line placemen...
Postoperative radiographs are used to monitor fractures of the tibia and femur after intramedullary fixation. This study sought to examine how frequently these radiographs change management....
This was a single-center chart review of patients over a 4-year period at a level I trauma center. Radiographs were defined as either performed for routine surveillance or performed with some clinical...
A total of 374 patients were found. Two hundred seventy-seven received at least one post-op radiograph. The median follow-up was 23 weeks. Six hundred seventeen total radiographs were reviewed. Nine r...
Our results suggest that radiographs taken in the first 3 months post-op in asymptomatic patients treated with lower extremity intramedullary rods do not result in changes to clinical management....
Albeit some studies have revealed the effectiveness of the orthosis use in infantile tibia vara (ITV), hitherto no study has shown the effects of these orthosis on plantar pressures. This study aims t...
Early soft-tissue reconstruction of open fractures has been shown to decrease infection rates and improve rates of bony union. The purpose of this study was to compare the rates and time to union of o...
A retrospective chart review of 118 patients with open tibia fractures requiring soft-tissue reconstruction treated at a single level 1 trauma center was performed. Demographic data as well as flap ty...
Limb salvage was achieved in 90% of patients. The overall rate of nonunion was 33%. Flap type significantly affected time to union, with local fasciocutaneous and keystone flaps having significantly l...
Flap type affects time to union but not nonunion rate in open tibia fractures....
Therapeutic, III....
BACKGROUND Adamantinoma is a rare low-grade malignant bone tumor, usually found in the tibial diaphysis and metaphysis, with histological similarities to mandibular ameloblastoma. The most effective t...
The study aims to determine the correlations between the anatomical structures of the distal femur and proximal tibia associated with the anterior cruciate ligament (ACL)....
Bilateral extremities of 293 patients [143 ACL-ruptured, 150 ACL-intact] (all male) were included in the study. Femoral bi-condylar width (BCW), intercondylar notch width (NW) in the distal femur, pro...
BCW, NW, TW, and EW measurements were lower in the ACL-ruptured group, but the difference was statistically significant only in the NW (p = 0.009) and TW (p = 0.005) measurements. There was no differe...
The NW and TW measurements may give an idea about injury risk or prevention in morphological measurements. Correlations also show that the femur and tibia should consider together for ACL injuries....
(1) Background: Several studies showed a sustained temperature of 47 °C or 50 °C for one minute resulted in vascular stasis and bone resorption with only limited bone regrowth over a 3-4-week healing ...