{"id":100619,"date":"2018-03-11T10:22:12","date_gmt":"2018-03-11T10:22:12","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-genetico-de-los-paragangliomas-cervico-cefalicos\/"},"modified":"2018-03-11T10:22:12","modified_gmt":"2018-03-11T10:22:12","slug":"estudio-genetico-de-los-paragangliomas-cervico-cefalicos","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/oncologia-clinica\/estudio-genetico-de-los-paragangliomas-cervico-cefalicos\/","title":{"rendered":"Estudio gen\u00e9tico de los paragangliomas c\u00e9rvico-cef\u00e1licos"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Pablo Santos Gorj\u00f3n <\/strong><\/h2>\n<p>El paraganglioma (pg) es un tumor benigno derivado de los paraganglios, de baja incidencia. La mayor\u00eda son asintom\u00e1ticos, \u00fanicos, espor\u00e1dicos, y de origen idiop\u00e1tico. Tambi\u00e9n existen formas hereditarias, relacionadas con mutaciones en la succinato deshidrogenasa (sdh) principalmente. El objeto de esta tesis es destacar la importancia del estudio gen\u00e9tico para el devenir en el futuro del abordaje integral y multidisciplinar de esta patolog\u00eda.  Hemos realizado un estudio retrospectivo desde 1983 a 2007 incluyendo 65 pacientes con 70 paragangliomas: 29 pacientes con pg carot\u00eddeos, 27 pacientes con pg yugulares, 8 pacientes con pg vagal. En 18 pacientes realizamos estudio gen\u00e9tico adem\u00e1s, y se a\u00f1adieron a este estudio gen\u00e9tico 14 pacientes de otros centros. Analizamos mutaciones de las subunidades b, c y d de la succinato deshidrogenasa (sdh). La edad media de los pacientes es de 59,91 a\u00f1os (rango 27-81), con 60% de mujeres. Un 82,14% presentaron tumor aislado, y 23,08% con tumores m\u00faltiples. Malignizaron 10,71 % (met\u00e1stasis cervicales o a distancia), y en 12,31% hab\u00eda antecedentes familiares. En un 26, 6% de los pacientes se observ\u00f3 una mutaci\u00f3n: 2 mutaciones en sdhb (exones 5 y 6) no descritas previamente, 4 mutaciones sdhc en ex\u00f3n 1, 3 ya descritas y otra en ex\u00f3n 5 no descrita anteriormente, y otras 2 en sdhd en el ex\u00f3n 3 ya descrita por otros autores. Las 3 mutaciones no descritas podr\u00edan corresponder con mutaciones fundadoras en nuestro pa\u00eds. As\u00ed mismo hemos encontrado 2 casos de tumores familiares ocultos.  el 50%  de los tumores multic\u00e9ntricos tienen mutaciones en sdhb y sdhd, y el 25% de los pg malignos tienen mutaciones, sobre todo sdhb y de localizaci\u00f3n vagal (ambos factores ser\u00edan por tanto factores de mal pron\u00f3stico).<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio gen\u00e9tico de los paragangliomas c\u00e9rvico-cef\u00e1licos<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio gen\u00e9tico de los paragangliomas c\u00e9rvico-cef\u00e1licos <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Pablo Santos Gorj\u00f3n <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Salamanca<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 30\/04\/2010<\/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>Rogelio Gonzalez Sarmiento<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: alberto Gomez alonso <\/li>\n<li>\u00e1ngel Ramos mac\u00edas (vocal)<\/li>\n<li>raimundo Gutierrez  fonseca (vocal)<\/li>\n<li>Fernando Vaquero morillo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Pablo Santos Gorj\u00f3n El paraganglioma (pg) es un tumor benigno derivado de los paraganglios, de baja incidencia. [&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":[11771,1027,347,9386],"tags":[9244,68206,137789,204849,9652,26315],"class_list":["post-100619","post","type-post","status-publish","format-standard","hentry","category-genetica-clinica","category-oncologia","category-oncologia-clinica","category-salamanca","tag-alberto-gomez-alonso","tag-angel-ramos-macias","tag-fernando-vaquero-morillo","tag-pablo-santos-gorjon","tag-raimundo-gutierrez-fonseca","tag-rogelio-gonzalez-sarmiento"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/100619","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=100619"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/100619\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=100619"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=100619"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=100619"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}