{"id":115201,"date":"2018-03-11T10:43:36","date_gmt":"2018-03-11T10:43:36","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/neoplasia-endocrina-multiple-tipo-2-en-la-region-de-murcia-estudio-clinico-genetico-y-molecular\/"},"modified":"2018-03-11T10:43:36","modified_gmt":"2018-03-11T10:43:36","slug":"neoplasia-endocrina-multiple-tipo-2-en-la-region-de-murcia-estudio-clinico-genetico-y-molecular","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/medicina-interna\/neoplasia-endocrina-multiple-tipo-2-en-la-region-de-murcia-estudio-clinico-genetico-y-molecular\/","title":{"rendered":"Neoplasia endocrina multiple tipo 2 en la region de murcia. estudio clinico, genetico y molecular"},"content":{"rendered":"

Tesis doctoral de Paloma Portillo Ortega <\/strong><\/h2>\n

Resumen: neoplasia endocrina m\u00faltiple tipo 2 en la regi\u00f3n de murcia. Estudio cl\u00ednico, gen\u00e9tico y molecular. introducci\u00f3n la neoplasia endocrina m\u00faltiple tipo 2 (men 2) se define como un conjunto de s\u00edndromes de herencia autos\u00f3mica dominante, con alta penetrancia y expresividad variable, en el que mutaciones en el proto-oncog\u00e9n ret dan origen a tres fenotipos diferentes: neoplasia endocrina m\u00faltiple 2a (men2a), 2b (men2b) y c\u00e1ncer medular de tiroides familiar (cmtf). Los distintos componentes cl\u00ednicos de cada uno de ellos son: –\tpara men2a: c\u00e1ncer medular de tiroides (cmt), feocromocitoma, hiperparatiroidismo. A veces, liquen cut\u00e1neo amiloid\u00f3tico o enfermedad de hirschprung. –\tpara men2b: cmt, feocromocitoma, h\u00e1bito marfanoide, ganglioneuromatosis intestinal, neuromas mucosos, escoliosis vertebral. –\tpara cmtf: cmt con o sin enfermedad de hirschprung. la importancia de la detecci\u00f3n temprana de alteraciones en el proto-oncog\u00e9n ret reside en la posibilidad de identificar a individuos portadores antes de la aparici\u00f3n de la enfermedad, previniendo as\u00ed el desarrollo del c\u00e1ncer medular de tiroides y controlando de cerca el desarrollo de otro de sus componentes cl\u00ednicos para el tratamiento precoz. este estudio se centra en la regi\u00f3n de murcia donde existe una alta preValencia de men2. Con este trabajo se pretende realizar un estudio descriptivo de los pacientes, compar\u00e1ndolos con los datos encontrados en otras poblaciones. Para ello se van a analizar distintos aspectos que se enuncian en el siguiente apartado. objetivos 1.\tAnalizar epidemiol\u00f3gicamente la presentaci\u00f3n de esta enfermedad en la comunidad aut\u00f3noma de la regi\u00f3n de murcia. 2.\tValorar la utilidad del diagn\u00f3stico precoz de esta enfermedad a trav\u00e9s del estudio gen\u00e9tico de todos los pacientes, estando \u00e9stos agrupados por familias. 3.\tEstablecer si existe correlaci\u00f3n genotipo-fenotipo. 4.\tEstablecer los principales marcadores cl\u00ednicos y bioqu\u00edmicos de la enfermedad 5.\tEstablecer los principales marcadores pron\u00f3sticos de la enfermedad. 6.\tValorar la utilidad cl\u00ednica de los cambios realizados evolutivamente en las t\u00e9cnicas quir\u00fargicas. 7.\tValorar la importancia del diagn\u00f3stico gen\u00e9tico preimplantacional (dgp). m\u00e9todos a partir de los datos recogidos en las historia cl\u00ednicas de la consulta monogr\u00e1fica de men del hospital universitario virgen de la arrixaca, se ha realizado un an\u00e1lisis descriptivo de todas las familias men 2 conocidas hasta la fecha del presente estudio. en total son 137 individuos portadores de alguna de las mutaciones del proto-oncog\u00e9n ret, de ellos, 135 expresan fenotipo men2a y pertenecen a 25 familias no relacionadas entre s\u00ed, y los otros dos pacientes expresan fenotipo men 2b. conclusiones 1. Existencia de una elevada preValencia de men2 en la regi\u00f3n de murcia (9 casos por 100.000 habitantes), siendo la zona del altiplano la de mayor incidencia, en concreto los municipios de yecla y jumilla. La mutaci\u00f3n gen\u00e9tica m\u00e1s prevalente en la regi\u00f3n es la cys634tyr (cod\u00f3n 634-ex\u00f3n 11). 2. El diagn\u00f3stico precoz mediante el despistaje gen\u00e9tico de los familiares de los casos \u00edndice de men2 es de vital importancia para evitar la aparici\u00f3n de cmt mediante el abordaje terap\u00e9utico en estadios pre-tumorales. 3. Se evidencia la asociaci\u00f3n entre el genotipo y fenotipo. 4. La exploraci\u00f3n cl\u00ednica, las t\u00e9cnicas de imagen e histopatol\u00f3gicas son fundamentales para el estadiaje de los tumores del men2. 5. Los principales marcadores de evoluci\u00f3n y pron\u00f3stico del cmt son el estadio tumoral y la edad al diagn\u00f3stico. 6. La mejora en las t\u00e9cnicas quir\u00fargicas y de tratamientos coadyuvantes hace que en las \u00faltimas d\u00e9cadas haya un mayor porcentaje de curaciones y\/o estabilizaciones del cmt. La cirug\u00eda profil\u00e1ctica se posiciona como el mejor avance quir\u00fargico en el tratamiento\/profilaxis del cmt del men2. 7. El diagnostico gen\u00e9tico preimplantacional hace posible la selecci\u00f3n embrionaria con el fin de poder erradicar la transmisi\u00f3n de esta enfermedad. summary: multiple endocrine neoplasia type 2 in region of murcia. Clinical, genetic and molecular study. introduction multiple endocrine neoplasia type 2 (men2) is defined as an autosomal dominant disorder in ret proto-oncogene mutations with high penetrance and variable expressivity, and is characterized by three different phenotypes: multiple endocrine neoplasia type 2a (men2a), type 2b (men2b) and familial medullary thyroid cancer (fmtc). The different clinical components of each one are the following: –\tmen2a: medullary thyroid carcinoma (mtc), pheochromocitoma, primary parathyroid hyperplasia. Sometimes, lichen planus amyloidotic or hirschprung disease –\tmen2b: mtc, pheochromocitoma, marfanoid habitus, intestinal ganglioneuromas, mucosal disturbances involving lips and tongue, spinal scoliosis –\tfmtc: mtc with or without hirschprung disease an early detection of mutations in the ret proto-oncogene has been shown as the possibility to identify individuals carriers before the onset of illness, preventing the development of medullary thyroid cancer and also controlling the development of another of its clinical components for early treatment. this study is focused in the region of murcia, where a high prevalence of men type 2 is existed. A descriptive study of the patients is intended in this work, compared with the data found in other populations. Different aspects or objectives are set out in the following paragraph. objectives 1.\tStudy the epidemiology of this disease in the region of murcia. 2.\tStudy the usefulness of early diagnosis of this disease through genetic screening. 3.\tEstablish a possible genotype-phenotype correlation. 4.\tEstablish the main clinical and biochemical markers of this disease. 5.\tEstablish the main prognostic markers of this disease. 6.\tEvaluate the usefulness of evolutionary changes in surgical techniques. 7.\tEvaluate the importance of preimplantation genetic diagnosis (pgd). methods a descriptive analysis of all men 2 families known until now has been made from the data collected in the clinical histories at the monographic men consultation in the university hospital virgen de la arrixaca (murcia). in total 137 individuals have been carriers of some of the ret proto-oncogene mutations, which 135 show phenotype men 2a belonging to 25 families not related to each other. The other two patients show phenotype men 2b. conclusions 1. A high prevalence of men type 2 in region de murcia (9 cases per 100000 residents) has been found. The highest incidence is been in the altiplano area, in particular the population of yecla and jumilla. The genetic mutation cys634tyr (codon 634 – exon 11) is been the most prevalent in the region. 2. Early diagnosis with genetic screening is found vital to prevent the mtc through the therapeutic approach in pre-tumoral stages. 3. A genotype-phenotype correlation has been demonstrated. 4. The clinical examination, imaging and histopathologic techniques have been shown as essential to staging men type 2 tumours. 5. Tumour stage and age at diagnosis have been identified as the main markers of evolution and prognosis of mtc. 6. The improvement in surgical techniques and others medical treatments have made that in recent decades there is a higher percentage of cures or stabilization of mtc. Prophylactic surgery has been positioned as the best surgical advance in the treatment\/prophylaxis of mtc in men type 2. 7. The pre-implantation genetic diagnosis has allowed the embryo selection in order to be able to eradicate the transmission of this disease.<\/p>\n

 <\/p>\n

Datos acad\u00e9micos de la tesis doctoral \u00abNeoplasia endocrina multiple tipo 2 en la region de murcia. estudio clinico, genetico y molecular<\/strong>\u00ab<\/h3>\n
    \n
  • T\u00edtulo de la tesis:<\/strong>\u00a0 Neoplasia endocrina multiple tipo 2 en la region de murcia. estudio clinico, genetico y molecular <\/li>\n
  • Autor:<\/strong>\u00a0 Paloma Portillo Ortega <\/li>\n
  • Universidad:<\/strong>\u00a0 Murcia<\/li>\n
  • Fecha de lectura de la tesis:<\/strong>\u00a0 31\/01\/2014<\/li>\n<\/ul>\n

     <\/p>\n

    Direcci\u00f3n y tribunal<\/h3>\n
      \n
    • Director de la tesis<\/strong>\n
        \n
      • Jos\u00e9 Manuel Rodriguez Gonzalez<\/li>\n<\/ul>\n<\/li>\n
      • Tribunal<\/strong>\n
          \n
        • Presidente del tribunal: fernando Escobar jimenez <\/li>\n
        • Mar\u00eda del mar Campos pastor (vocal)<\/li>\n
        • teresa Soria cogollos (vocal)<\/li>\n
        • Juan f Ascaso gimilio (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n

           <\/p>\n","protected":false},"excerpt":{"rendered":"

          Tesis doctoral de Paloma Portillo Ortega Resumen: neoplasia endocrina m\u00faltiple tipo 2 en la regi\u00f3n de murcia. Estudio cl\u00ednico, gen\u00e9tico […]<\/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":[851,139,8235,384],"tags":[21702,123463,11775,144076,228019,8437],"class_list":["post-115201","post","type-post","status-publish","format-standard","hentry","category-endocrinologia","category-medicina-interna","category-murcia","category-patologia-clinica","tag-fernando-escobar-jimenez","tag-jose-manuel-rodriguez-gonzalez","tag-juan-f-ascaso-gimilio","tag-maria-del-mar-campos-pastor","tag-paloma-portillo-ortega","tag-teresa-soria-cogollos"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/115201","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=115201"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/115201\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=115201"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=115201"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=115201"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}