{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T08:45:04Z","timestamp":1762505104959},"reference-count":84,"publisher":"FapUNIFESP (SciELO)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2005,10]]},"abstract":"<jats:p>As s\u00edndromes de neoplasias end\u00f3crinas m\u00faltiplas (NEM) incluem as do tipo 1 (MEN 1) e 2 (MEN 2), a s\u00edndrome de von Hippel-Lindau, neurofibromatose tipo 1 e o complexo de Carney. Estas s\u00e3o s\u00edndromes gen\u00e9ticas complexas decorrentes de ativa\u00e7\u00e3o ou inativa\u00e7\u00e3o de diferentes tipos de genes envolvidos na regula\u00e7\u00e3o da prolifera\u00e7\u00e3o celular. Nesta revis\u00e3o, discutiremos as manifesta\u00e7\u00f5es cl\u00ednicas e o acompanhamento da MEN 1, assim como o rastreamento gen\u00e9tico de potenciais portadores de altera\u00e7\u00f5es no gene MEN 1. A MEN 1 inclui o desenvolvimento de hiperparatiroidismo prim\u00e1rio multifocal, tumores de ilhotas pancre\u00e1ticas e adenomas de hip\u00f3fise. Al\u00e9m disso, alguns pacientes podem apresentar manifesta\u00e7\u00f5es cut\u00e2neas como angiofibromas e colagenomas e ainda podem desenvolver outras neoplasias como tumores carcin\u00f3ides, tumores de tir\u00f3ide, adenomas de adrenal, lipomas, feocromocitomas e meningiomas. A MEN 1 \u00e9 uma s\u00edndrome heredit\u00e1ria, transmitida de forma autoss\u00f4mica dominante e causada por muta\u00e7\u00e3o inativadora do gene MEN 1. O gene MEN 1 codifica uma prote\u00edna denominada \"menin\", que \u00e9 um gene supressor tumoral. V\u00e1rios estudos demonstraram sua import\u00e2ncia na regula\u00e7\u00e3o da prolifera\u00e7\u00e3o celular e confirmaram seu papel na patog\u00eanese da MEN 1. A identifica\u00e7\u00e3o do gene MEN 1 e sua an\u00e1lise gen\u00e9tica resultaram na possibilidade de monitora\u00e7\u00e3o de pacientes que ainda n\u00e3o apresentam manifesta\u00e7\u00f5es cl\u00ednicas associadas a esta s\u00edndrome e diagn\u00f3stico precoce e tratamento dos pacientes afetados. Tais medidas poder\u00e3o implicar em sobrevida maior para estes pacientes. Estudos adicionais visando uma melhor compreens\u00e3o da fun\u00e7\u00e3o e dos mecanismos de sinaliza\u00e7\u00e3o da prote\u00edna \"menin\" poder\u00e3o propiciar alternativas terap\u00eauticas para os pacientes que evoluem com maligniza\u00e7\u00e3o de tumores relacionados \u00e0 MEN 1, podendo resultar em maior sobrevida.<\/jats:p>","DOI":"10.1590\/s0004-27302005000500014","type":"journal-article","created":{"date-parts":[[2006,2,10]],"date-time":"2006-02-10T14:05:59Z","timestamp":1139580359000},"page":"735-746","source":"Crossref","is-referenced-by-count":13,"title":["Neoplasia end\u00f3crina m\u00faltipla tipo 1: diagn\u00f3stico cl\u00ednico, laboratorial e molecular e tratamento das doen\u00e7as associadas"],"prefix":"10.1590","volume":"49","author":[{"given":"Ana Oliveira","family":"Hoff","sequence":"first","affiliation":[{"name":"MD Anderson Cancer Center; Universidade Federal de S\u00e3o Paulo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omar 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