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"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 ?",
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"@type": "Question",
"name": "Comment diagnostiquer une anomalie de SMARCB1 ?",
"position": 1,
"acceptedAnswer": {
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"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."
}
}
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