{"id":18890,"date":"2025-05-25T16:54:08","date_gmt":"2025-05-25T16:54:08","guid":{"rendered":"https:\/\/endoscopiaterapeutica.net\/es\/?p=18890"},"modified":"2025-05-25T17:18:58","modified_gmt":"2025-05-25T17:18:58","slug":"rastreo-de-neoplasia-pancreatica-en-individuos-con-predisposicion-genetica","status":"publish","type":"post","link":"https:\/\/endoscopiaterapeutica.net\/es\/temas-generales\/rastreo-de-neoplasia-pancreatica-en-individuos-con-predisposicion-genetica\/","title":{"rendered":"Rastreo de neoplasia pancre\u00e1tica en individuos con predisposici\u00f3n gen\u00e9tica"},"content":{"rendered":"<p>La neoplasia pancre\u00e1tica presenta habitualmente un manejo desafiante, debido a su comportamiento biol\u00f3gicamente agresivo, respuesta limitada a las terapias oncol\u00f3gicas y etapa avanzada de la enfermedad al diagn\u00f3stico. La tasa reportada de supervivencia media en 5 a\u00f1os es de alrededor del 10% y aproximadamente el 80% de los pacientes no son elegibles para tratamiento quir\u00fargico al diagn\u00f3stico. Sin embargo, la detecci\u00f3n en etapas iniciales de la enfermedad est\u00e1 asociada a mejor supervivencia, pudiendo alcanzar el 93% en 10 a\u00f1os en diagn\u00f3sticos en el estadio 0 y hasta el 39% en 5 a\u00f1os en neoplasias estadio I.<\/p>\n<p>Debido a la naturaleza a menudo asintom\u00e1tica del c\u00e1ncer pancre\u00e1tico en etapas iniciales, la detecci\u00f3n precoz puede ser desafiante y generalmente requiere m\u00e9todos de rastreo en poblaciones de alto riesgo.<\/p>\n<p>En 2022 la ASGE public\u00f3 una gu\u00eda acerca de las recomendaciones de detecci\u00f3n para adenocarcinoma ductal pancre\u00e1tico en individuos con susceptibilidad gen\u00e9tica.<\/p>\n<p>La gu\u00eda sugiere la realizaci\u00f3n de rastreo de neoplasia pancre\u00e1tica en individuos con riesgo aumentado de c\u00e1ncer pancre\u00e1tico debido a la susceptibilidad gen\u00e9tica. Un total de 25 estudios fueron analizados, involucrando pacientes con <strong>s\u00edndrome de pancreatitis hereditaria familiar, s\u00edndrome de Peutz-Jeghers, s\u00edndrome familiar de melanoma m\u00faltiple at\u00edpico y s\u00edndrome de Lynch<\/strong>, as\u00ed como aquellos con variantes patog\u00e9nicas en los genes <strong>BRCA1, BRCA2, ATM y PALB2<\/strong>. Las principales medidas evaluadas incluyeron mortalidad por todas las causas, rendimiento de la detecci\u00f3n de lesiones de alto riesgo, rendimiento de la detecci\u00f3n de lesiones resecables y lim\u00edtrofes y da\u00f1os causados por la detecci\u00f3n.<\/p>\n<p>Un dato destacado en el an\u00e1lisis de los estudios es que alrededor del 60% de las neoplasias detectadas por el triaje eran resecables o lim\u00edtrofes, mientras que en la pr\u00e1ctica cotidiana, el 20% de los casos sintom\u00e1ticos son diagnosticados cuando son resecables o lim\u00edtrofes, el 30% en etapa localmente avanzada y el 50% son metast\u00e1sicos.<\/p>\n<p>Es importante resaltar tambi\u00e9n posibles perjuicios derivados de la realizaci\u00f3n del rastreamiento, not\u00e1ndose que, aunque en el total de pacientes sometidos al triaje la tasa de cirug\u00edas que no evidenciaron tumores fue del 2,8%, entre los 181 pacientes operados, el 46,6% no presentaron evidencia de neoplasia en la pieza quir\u00fargica y la tasa de eventos adversos fue del 19,9%.<\/p>\n<p class=\"has-pale-ocean-gradient-background has-background\">En cuanto al m\u00e9todo de rastreamiento, la gu\u00eda sugiere que tanto la realizaci\u00f3n de <strong>ecoendoscopia<\/strong> como de <strong>resonancia magn\u00e9tica<\/strong> o la alternancia entre estos m\u00e9todos son estrategias viables.<\/p>\n<p>La ecoendoscopia puede ser preferida en casos de pacientes con riesgo bastante aumentado para tumor de p\u00e1ncreas, como en el s\u00edndrome de Peutz-Jeghers y s\u00edndrome familiar de melanoma m\u00faltiple at\u00edpico, en situaciones que puede ser combinada con ex\u00e1menes de endoscopia y colonoscopia de rastreamiento, como en los s\u00edndromes de Lynch y Peutz-Jeghers, y en situaciones de contraindicaci\u00f3n para la realizaci\u00f3n de resonancia magn\u00e9tica. Se sugiere que se utilicen ecoendoscopios con sondas sectoriales por el mejor rendimiento diagn\u00f3stico.<\/p>\n<p>Ya la resonancia magn\u00e9tica puede ser el m\u00e9todo de elecci\u00f3n en situaciones de riesgo aumentado para la sedaci\u00f3n relacionada con procedimientos endosc\u00f3picos, en pacientes que prioricen m\u00e9todos menos invasivos y en la posibilidad de realizaci\u00f3n concomitante de otros ex\u00e1menes de imagen.<\/p>\n<p>La periodicidad sugerida del rastreamiento es anual para todos los grupos de pacientes con riesgo aumentado de c\u00e1ncer pancre\u00e1tico debido a la susceptibilidad gen\u00e9tica y las recomendaciones de edad para inicio del rastreo est\u00e1n resumidas en la tabla:<\/p>\n<figure class=\"wp-block-table is-style-stripes\">\n<div class=\"pcrstb-wrap\"><table class=\"has-pale-ocean-gradient-background has-background\">\n<thead>\n<tr>\n<th><strong>Variante patog\u00e9nica \/ S\u00edndrome<\/strong><\/th>\n<th><strong>Inicio del rastreo<\/strong><\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td><strong>BRCA2<\/strong> \/ <strong>BRCA1<\/strong> \/ <strong>PALB2<\/strong><br \/>\nHeterocigotos<strong> ATM <\/strong>+ fam. 1\u00ba\/2\u00ba grado c\/ neo de p\u00e1ncreas<br \/>\n<strong>FPC <\/strong>(rastreo recomendado en fam. 1\u00ba grado de los afectados)<br \/>\n<strong>Lynch <\/strong>+ fam. 1\u00ba\/2\u00ba grado c\/ neo de p\u00e1ncreas<\/td>\n<td>50 a\u00f1os \/ 10 a\u00f1os antes del fam. + joven con neo de p\u00e1ncreas<\/td>\n<\/tr>\n<tr>\n<td><strong>FAMMM<\/strong><\/td>\n<td>40 a\u00f1os \/ 10 a\u00f1os antes del fam. + joven con neo de p\u00e1ncreas<\/td>\n<\/tr>\n<tr>\n<td><strong>Peutz-Jeghers<\/strong><\/td>\n<td>35 a\u00f1os \/ 10 a\u00f1os antes del fam. + joven con neo de p\u00e1ncreas<\/td>\n<\/tr>\n<tr>\n<td><strong>Pancreatite heredit\u00e1ria autoss\u00f4mica dominante<\/strong><\/td>\n<td>40 a\u00f1os<\/td>\n<\/tr>\n<\/tbody>\n<\/table><\/div>\n<\/figure>\n<h2 id=\"h-referencia\" class=\"wp-block-heading\"><strong>Referencia<\/strong><\/h2>\n<ol>\n<li>Sawhney MS, Calderwood AH, Thosani NC, Rebbeck TR, Wani S, Canto MI, Fishman DS, Golan T, Hidalgo M, Kwon RS, Riegert-Johnson DL, Sahani DV, Stoffel EM, Vollmer CM Jr, Qumseya BJ; ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations. Gastrointest Endosc. 2022 May;95(5):817-826. PMID: 35183358<\/li>\n<\/ol>\n<h2 id=\"h-como-citar-este-artigo\" class=\"wp-block-heading\"><strong>C\u00f3mo citar este art\u00edculo<\/strong><\/h2>\n<p class=\"has-very-light-gray-to-cyan-bluish-gray-gradient-background has-background\">Logiudice FP, Penaloza CS. Rastreo de neoplasia pancre\u00e1tica en individuos con predisposici\u00f3n gen\u00e9tica. Endoscopia Terap\u00e9utica 2024, vol 1. Disponible en: <a href=\"https:\/\/endoscopiaterapeutica.net\/pt\/?p=18537\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/endoscopiaterapeutica.net\/es\/temas-generales\/rastreo-de-neoplasia-pancreatica-en-individuos-con-predisposicion-genetica\/\u00a0<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>La neoplasia pancre\u00e1tica presenta habitualmente un manejo desafiante, debido a su comportamiento biol\u00f3gicamente agresivo,&hellip;<\/p>\n","protected":false},"author":5758,"featured_media":18889,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"","_lmt_disable":"","footnotes":""},"categories":[151],"tags":[],"ano":[741],"tipo":[154],"volume":[263],"class_list":["post-18890","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-temas-generales","ano-741","tipo-ultrasonido-endoscopico","volume-volumen-i"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.2 (Yoast SEO v27.3) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Rastreo de neoplasia pancre\u00e1tica en individuos con predisposici\u00f3n gen\u00e9tica &#8226; 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