{"id":83514,"date":"2018-03-10T00:07:39","date_gmt":"2018-03-10T00:07:39","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudi-clinic-patologic-i-genetic-del-melanoma-maligne-i-de-la-sindrome-del-nevus-displastic\/"},"modified":"2018-03-10T00:07:39","modified_gmt":"2018-03-10T00:07:39","slug":"estudi-clinic-patologic-i-genetic-del-melanoma-maligne-i-de-la-sindrome-del-nevus-displastic","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudi-clinic-patologic-i-genetic-del-melanoma-maligne-i-de-la-sindrome-del-nevus-displastic\/","title":{"rendered":"Estudi clinic patologic i genetic del melanoma maligne i de la sindrome del nevus displastic"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Susana Puig Sard\u00e1 <\/strong><\/h2>\n<p>El melanoma (mm) es el tumor cutaneo con una mayor morbimortalidad. El mm tiene una etiopatogenia compleja que incluye la exposici\u00f3n a la radiac\u00f3n ultravioleta y la susceptibilidad genetica. Se han descrito lesiones precursoras, los nevus clinicamente atipicos (nca) o displ\u00e1sicos que son a su vez marcadores de riesgo. Un mejor conocimiento de la base gen\u00e9tica del mm deberia permitir la introduccion de nuevas pruebas diagn\u00f3sticas, nuevos factores pron\u00f3sticos y a su vez incidir en una mejora terapeutica.  objetivos: caracterizar molecularmente el mm esporadico y familiar. Inicialmente realizar estudios de perdida de heterozigosidad (loh) y ligamiento genetico en 9p21. Posteriormente realizar un estudio mutacional de los genes cadidatos mediante sscp y secuenciacion. Finalmente establecer una relacion entre los hallazgos moleculares y las caracteristicas clinicas.  metodos: se incluyeron 54 tumores esporadicos pertenecientes a 46 pacientes no relacionados, 56 miembros de 34 familias no relacionadas y 9 pacientes afectos demas de un mm primario. Se analizaron 16 marcadores microsatelites de 9p13-21 en los tumores esporadicos para identificar las loh. Se realizaron analisis de ligamiento genetico en las familias con 4 de estos marcadores. se realizo un analisis mutacional de los genes cdkn2a, p14arf y cdk4 mediante sscp y secuenciacion directa.  conclusiones: 1)diversos genes localizados en 9p21 estan involucrados en el desarrollo inicial de mm, 2) cdkn2a esta raramente mutado en los tumores esporadicos, 3) diversos genes localizados en 9p21 estan involucrados en la progresion tumoral del mm, 4)la loh de 8 o m\u00e1s microsatelites de 9p es un factor pronostico util para predecir el desarrollo de en los primeros 4.4-6.3 a\u00f1os, 5) la mutacion (358 del g) de cdkn2a identificada en una familia de mm no es solo responsable de susceptibilidad a mm sino tambien de susceptibilidad a otras neoplasias, 6) se han identificado mutaciones en cdkn2a en<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudi clinic patologic i genetic del melanoma maligne i de la sindrome del nevus displastic<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudi clinic patologic i genetic del melanoma maligne i de la sindrome del nevus displastic <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Susana Puig Sard\u00e1 <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 25\/02\/2000<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Jos\u00e9 M Mascaro Ballester<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Francisco Camacho mart\u00ednez <\/li>\n<li>Jos\u00e9 Mar\u00eda De moragas vinas (vocal)<\/li>\n<li>pere Gascon villaplana (vocal)<\/li>\n<li>montserrat Mil\u00e1 recasens (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Susana Puig Sard\u00e1 El melanoma (mm) es el tumor cutaneo con una mayor morbimortalidad. El mm tiene [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[951,155,9,97,11771],"tags":[3672,1237,176956,77262,176957,121024],"class_list":["post-83514","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-ciencias-clinicas","category-ciencias-medicas","category-dermatologia","category-genetica-clinica","tag-francisco-camacho-Martinez","tag-jose-m-mascaro-ballester","tag-jose-maria-de-moragas-vinas","tag-montserrat-mila-recasens","tag-pere-gascon-villaplana","tag-susana-puig-sarda"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/83514","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=83514"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/83514\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=83514"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=83514"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=83514"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}