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Síndrome de Peutz Jeghers
A síndrome de Peutz-Jeghers (SPJ) é uma condição hereditária autossômica dominante rara, caracterizada pela presença de múltiplos pólipos hamartomatosos no estômago, intestino delgado e colo, acompanhada de lesões epidérmicas pigmentadas distintivas.
O seu surgimento se dá pela herança de uma mutação no gene STK11, também chamado de LKB1. Alguns pesquisadores consideram que possam existir outros genes causadores SPJ que ainda não foram estudados.
Sem o acompanhamento de um especialista, o risco do desenvolvimento de câncer ao longo da vida em pessoas com a doença pode chegar a 93%.
Indivíduos com pelo menos 2 das seguintes características podem ser considerados portadores de SPJ:
Pelo menos 2 pólipos hamartomatosos do tipo Peutz-Jeghers no intestino delgado
Sardas características da boca, lábios, dedos das mãos ou pés
Pelo menos 1 parente diagnosticado com SPJ
Recomenda-se que os indivíduos que atendem a esses critérios façam testes genéticos para rastreio de mutação herdada, também chamada de alteração, no gene STK11
#draandrezasouto #oncologia #oncogenetica #oncologiaclinica #oncologistaembrasilia #oncoclinicas #shorts
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