{"id":13691,"date":"2022-09-29T06:46:00","date_gmt":"2022-09-29T06:46:00","guid":{"rendered":"https:\/\/endoscopiaterapeutica.net\/pt\/?p=13691"},"modified":"2023-08-26T21:31:18","modified_gmt":"2023-08-26T21:31:18","slug":"cancer-gastrico-hereditario","status":"publish","type":"post","link":"https:\/\/endoscopiaterapeutica.net\/pt\/assuntosgerais\/cancer-gastrico-hereditario\/","title":{"rendered":"C\u00e2ncer G\u00e1strico Heredit\u00e1rio"},"content":{"rendered":"\n<p><em>Autores: Marcus Fernando Kodama Pertille Ramos e \u00cdtalo Beltr\u00e3o Pereira Sim\u00f5es<\/em><\/p>\n\n\n\n<p>A maioria dos casos de c\u00e2ncer g\u00e1strico (CG) s\u00e3o espor\u00e1dicos, mas cerca de 10% apresentam agrega\u00e7\u00e3o familiar e 1 a 3% possuem uma causa heredit\u00e1ria. O conhecimento das s\u00edndromes heredit\u00e1rias como fator causal do c\u00e2ncer colorretal (CCR) \u00e9 bem difundido, mas no CG isso \u00e9 menos divulgado, fato que pode prejudicar o diagn\u00f3stico precoce e o seguimento adequado. <\/p>\n\n\n\n<p>O CG heredit\u00e1rio pode ocorrer associado a presen\u00e7as de polipose ou n\u00e3o, como no caso das s\u00edndromes do C\u00e2ncer G\u00e1strico Difuso Heredit\u00e1rio, <em>Li-Fraumeni<\/em>, BRCA1, BRCA2 e <em>Lynch<\/em>. Nesse artigo descreveremos brevemente as principais s\u00edndromes de CG heredit\u00e1rio associadas \u00e0 polipose deixando as n\u00e3o associadas para um artigo futuro.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-1-cg-hereditario-associado-a-polipose\"><strong>1<\/strong>. <strong>CG <strong>HEREDIT\u00c1RIO ASSOCIADO A POLIPOSE<\/strong><\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-1-1-polipose-adenomatosa-familiar-paf\"><strong>1.1 <em>POLIPOSE ADENOMATOSA FAMILIAR (PAF)<\/em><\/strong><\/h3>\n\n\n\n<p>A PAF decorre de uma muta\u00e7\u00e3o do gene supressor tumoral do gene APC causando um alt\u00edssimo risco de CCR. <\/p>\n\n\n\n<p>Cerca de 51 a 88% dos pacientes apresentam p\u00f3lipos g\u00e1stricos principalmente de gl\u00e2ndulas f\u00fandicas (PGF). A incid\u00eancia \u00e9 elevada inclusiva na PAF atenuada. Eles costumam ser numerosos, e o termo polipose g\u00e1strica pode ser empregado apenas quando mais de 20 est\u00e3o presentes. <\/p>\n\n\n\n<p>Displasia de baixo grau pode estar presente em at\u00e9 44% dos p\u00f3lipos de gl\u00e2ndulas f\u00fandicas. P\u00f3lipos adenomatosos s\u00e3o detectados em cerca de 20% dos pacientes com PAF. <\/p>\n\n\n\n<p>O rastreamento endosc\u00f3pico alto \u00e9 recomendado no momento da manifesta\u00e7\u00e3o da polipose col\u00f4nica ou a partir de 25 anos. O intervalo de realiza\u00e7\u00e3o vai depender dos achados e tamb\u00e9m de acordo com a necessidade de seguimento de adenoma de papila, quando presente, de acordo como escore de <em>Spigelman.<\/em><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img fetchpriority=\"high\" decoding=\"async\" src=\"https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-7.png\" alt=\"\" class=\"wp-image-13692\" style=\"width:399px;height:441px\" width=\"399\" height=\"441\" srcset=\"https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-7.png 626w, https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-7-271x300.png 271w, https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-7-585x647.png 585w\" sizes=\"(max-width: 399px) 100vw, 399px\" \/><figcaption class=\"wp-element-caption\">Polipose g\u00e1strica em paciente com PAF. Imagens mostram in\u00fameros p\u00f3lipos em c\u00e1rdia, fundo, corpo e antro.<\/figcaption><\/figure>\n<\/div>\n\n\n<h3 class=\"wp-block-heading\" id=\"h-1-2-sindrome-de-peutz-jeghers-spj\"><strong><em>1.2 S\u00cdNDROME DE PEUTZ-JEGHERS (SPJ)<\/em><\/strong><\/h3>\n\n\n\n<p>A SPJ \u00e9 autoss\u00f4mica dominante, caracterizada pelo desenvolvimento de polipose hamartomatosa gastrointestinal principalmente no jejuno associada a presen\u00e7a de m\u00e1culas melanoc\u00edticas. <\/p>\n\n\n\n<p>O diagn\u00f3stico cl\u00ednico baseia-se na confirma\u00e7\u00e3o da presen\u00e7a de p\u00f3lipos hamartomatosos associado com hist\u00f3ria familiar positiva e hiperpigmenta\u00e7\u00e3o de mucosas, dedos e genit\u00e1lia externa. <\/p>\n\n\n\n<p>P\u00f3lipos g\u00e1stricos s\u00e3o detectados em 25% dos casos, comparados com 70-90 % encontrados no intestino delgado e 50% no c\u00f3lon. O aspecto morfol\u00f3gico do p\u00f3lipo g\u00e1strico na SPJ assemelha-se a um padr\u00e3o viloso prolifera\u00e7\u00e3o epitelial hiperpl\u00e1sica sendo dif\u00edcil distinguir do p\u00f3lipo juvenil e hiperpl\u00e1sico. <\/p>\n\n\n\n<p>Displasia \u00e9 raramente detectada nos p\u00f3lipos mas indiv\u00edduos com SPJ tem 29% risco de desenvolver CG principalmente do tipo intestinal. <\/p>\n\n\n\n<p>Rastreamento deve ser iniciado precocemente na inf\u00e2ncia com endoscopia inicial com periodicidade dependendo dos achados. A partir dos 50 anos, o risco de CG aumenta e a periodicidade deve ser mais frequente entre 1 a 2 anos.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" src=\"https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-8.png\" alt=\"\" class=\"wp-image-13693\" style=\"width:370px;height:577px\" width=\"370\" height=\"577\" srcset=\"https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-8.png 563w, https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-8-192x300.png 192w\" sizes=\"(max-width: 370px) 100vw, 370px\" \/><figcaption class=\"wp-element-caption\">Sequ\u00eancia de imagem mostrando p\u00f3lipo em regi\u00e3o de corpo g\u00e1strico em paciente com S\u00edndrome de <em>Peutz-Jeghers<\/em>, imagens inferiores com magnifica\u00e7\u00e3o de imagem.<\/figcaption><\/figure>\n<\/div>\n\n\n<h3 class=\"wp-block-heading\" id=\"h-1-3-sindrome-da-polipose-juvenil\"><strong><em>1.3 S\u00cdNDROME DA POLIPOSE JUVENIL<\/em><\/strong><\/h3>\n\n\n\n<p>S\u00edndrome autoss\u00f4mica dominante que leva ao desenvolvimento de p\u00f3lipos em todo trato gastrointestinal principalmente no c\u00f3lon e reto. <\/p>\n\n\n\n<p>Crit\u00e9rios para suspeita cl\u00ednica da s\u00edndrome incluem mais de 5 p\u00f3lipos juvenis colorretais, p\u00f3lipos juvenis ao longo do trato gastrointestinal ou mais de 1 p\u00f3lipo juvenil com hist\u00f3ria familiar positiva. O diagn\u00f3stico definitivo \u00e9 realizado de um dos crit\u00e9rios de suspeita cl\u00ednica na presen\u00e7a dos genes <em>BMPR1A<\/em> e<em> SMAD4<\/em> no teste gen\u00e9tico. <\/p>\n\n\n\n<p>Os p\u00f3lipos juvenis s\u00e3o p\u00f3lipos hamartomatosos que se desenvolvem a partir de um tecido normal do trato gastrointestinal. O aspecto endosc\u00f3pico habitualmente \u00e9 de um p\u00f3lipo pediculado, multilobado, macio variando desde pequenos p\u00f3lipos at\u00e9 p\u00f3lipos gigantes. Em at\u00e9 75% dos casos existem outros tipos de p\u00f3lipos em conjunto. &nbsp;Polipose g\u00e1strica severa pode ocorrer causando anemia, hemat\u00eamese, enteropatia com perda proteica e sintomas obstrutivos. Progress\u00e3o para CG ocorre em at\u00e9 21% dos casos com m\u00e9dia de idade de 58 anos. <\/p>\n\n\n\n<p>Rastreamento endosc\u00f3pico \u00e9 recomendado a partir da adolesc\u00eancia com endoscopias anuais.<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>Saiba mais sobre a polipose juvenil clicando<strong> <a rel=\"noreferrer noopener\" href=\"https:\/\/endoscopiaterapeutica.net\/pt\/assuntosgerais\/sindrome-da-polipose-juvenil\/\" data-type=\"post\" data-id=\"11241\" target=\"_blank\">neste post<\/a><\/strong><\/p>\n<\/blockquote>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" src=\"https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-9.png\" alt=\"\" class=\"wp-image-13694\" style=\"width:395px;height:367px\" width=\"395\" height=\"367\" srcset=\"https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-9.png 633w, https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-9-300x279.png 300w, https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-9-585x543.png 585w\" sizes=\"(max-width: 395px) 100vw, 395px\" \/><figcaption class=\"wp-element-caption\">Imagens superiores mostram p\u00f3lipo juvenil hamartomatoso em regi\u00e3o da c\u00e1rdia em paciente com polipose juvenil. Imagens inferiores mostram os diferentes aspectos e tamanho dos p\u00f3lipos encontrados na s\u00edndrome.<\/figcaption><\/figure>\n<\/div>\n\n\n<h3 class=\"wp-block-heading\" id=\"h-1-4-polipose-associada-ao-mutyh-map\"><strong><em>1.4 POLIPOSE ASSOCIADA AO MUTYH (MAP)<\/em><\/strong><\/h3>\n\n\n\n<p>MAP \u00e9 uma s\u00edndrome rara, autoss\u00f4mica recessiva, associada com muta\u00e7\u00e3o no gene MUTYH que participa de processos de reparo de DNA. Pacientes com MAP tem predisposi\u00e7\u00e3o para o CCR, mama e ov\u00e1rio. <\/p>\n\n\n\n<p>P\u00f3lipos g\u00e1stricos s\u00e3o detectados em cerca de 10 a 33% dos casos e a maioria adenomas e PGF. <\/p>\n\n\n\n<p>O risco de CG \u00e9 baixo (2%) mas ocorre em pacientes mais jovens (mediana de 38 anos). Por outro lado, o risco de c\u00e2ncer duodenal \u00e9 alto podendo ocorrer em 17% dos casos.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-1-5-adenocarcinoma-gastrico-com-polipose-proximal-gapps\"><strong><em>1.5 ADENOCARCINOMA G\u00c1STRICO COM POLIPOSE PROXIMAL (GAPPS)<\/em><\/strong><\/h3>\n\n\n\n<p>Essa s\u00edndrome \u00e9 caracterizada pelo desenvolvimento de uma polipose g\u00e1strica proximal incluindo o fundo e corpo formando um tapete de pequenos p\u00f3lipos usualmente menores que 1 cm. O tipo histol\u00f3gico dos p\u00f3lipos \u00e9 variado podendo ser PGF, hiperpl\u00e1sico, adenomas e mistos. <\/p>\n\n\n\n<p>Os crit\u00e9rios para diagn\u00f3stico cl\u00ednico incluem detec\u00e7\u00e3o de mais de 100 p\u00f3lipos ou mais de 30 p\u00f3lipos com hist\u00f3ria familiar positiva em parente de primeiro grau, p\u00f3lipos restritos ao corpo e fundo sem a presen\u00e7a de p\u00f3lipos colorretais, morfologia de PGF com \u00e1reas de displasia ou carcinoma, exclus\u00e3o de outras s\u00edndromes e uso de inibidor de bomba de pr\u00f3tons. <\/p>\n\n\n\n<p>S\u00e9rie de casos relataram incid\u00eancia de 12,7% de CG, todos do tipo intestinal. <\/p>\n\n\n\n<p>Seguimento endosc\u00f3pico deve ser realizado, mas em casos com m\u00faltiplos p\u00f3lipos a avalia\u00e7\u00e3o de p\u00f3lipos com sinais de degenera\u00e7\u00e3o pode ficar prejudicada sendo indicada a gastrectomia total.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-10.png\" alt=\"\" class=\"wp-image-13695\" style=\"width:529px;height:279px\" width=\"529\" height=\"279\" srcset=\"https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-10.png 936w, https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-10-300x159.png 300w, https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-10-768x406.png 768w, https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-10-585x309.png 585w\" sizes=\"(max-width: 529px) 100vw, 529px\" \/><figcaption class=\"wp-element-caption\">Imagens de GAPPS evidenciando acometimento de corpo e fundo com diminui\u00e7\u00e3o progressiva no n\u00famero de p\u00f3lipos no est\u00f4mago distal.<\/figcaption><\/figure>\n<\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><a href=\"https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-11.png\" data-rel=\"penci-gallery-image-content\" ><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-11.png\" alt=\"\" class=\"wp-image-13696\" style=\"width:574px;height:313px\" width=\"574\" height=\"313\" srcset=\"https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-11.png 886w, https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-11-300x164.png 300w, https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-11-768x420.png 768w, https:\/\/endoscopiaterapeutica.net\/pt\/wp-content\/uploads\/2022\/09\/image-11-585x320.png 585w\" sizes=\"(max-width: 574px) 100vw, 574px\" \/><\/a><figcaption class=\"wp-element-caption\">Tabela com resumo das principais caracter\u00edsticas das s\u00edndromes gen\u00e9ticas relacionadas com o c\u00e2ncer g\u00e1strico heredit\u00e1rio, dividindo-as em associadas e n\u00e3o associadas a polipose do trato gastrointestinal.<\/figcaption><\/figure>\n<\/div>\n\n\n<h3 class=\"wp-block-heading\" id=\"h-para-saber-mais-sobre-este-tema-e-outros-relacionados-acesse-o-site-gastropedia-clicando-aqui\"><a href=\"https:\/\/gastropedia.com.br\/cirurgia\/esofago-estomago-duodeno\/tumores-do-remanescente-gastrico\/\">Para saber mais sobre este tema e outros relacionados, acesse o site Gastropedia clicando aqui!<\/a><\/h3>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-referencias\"><strong>Refer\u00eancias<\/strong><\/h2>\n\n\n\n<ol type=\"1\" class=\"has-normal-font-size wp-block-list\">\n<li>Clauditz TS, Moore M, Setia N, et al. Syndromic gastric polyposis and hereditary gastric cancers. <em>Diagnostic Histopathologic<\/em> 2019; 26(1):39-46.<\/li>\n\n\n\n<li>Mahon SM. Hereditary Polyposis Syndromes. Gentics and Genomics 2018; 22(2): 151-6<\/li>\n\n\n\n<li>Cardoso DM. S\u00edndromes de polipose colorretal.&nbsp;<a href=\"https:\/\/endoscopiaterapeutica.net\/pt\/\"><strong>Endoscopia<\/strong><\/a>&nbsp;Terap\u00eautica; 2020. Dispon\u00edvel em: https:\/\/endoscopiaterapeutica.net\/pt\/assuntosgerais\/sindromes-de-polipose-colorretal\/<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-como-citar-este-artigo\"><strong>Como citar este artigo<\/strong><\/h2>\n\n\n\n<p>Kodama, MFKP e Simoes IBP. C\u00e2ncer g\u00e1strico heredit\u00e1rio. Gastropedia 2022. Dispon\u00edvel em: <a rel=\"noreferrer noopener\" href=\"https:\/\/endoscopiaterapeutica.net\/pt\/?p=13691\" target=\"_blank\">https:\/\/endoscopiaterapeutica.net\/pt\/assuntosgerais\/cancer-gastrico-hereditario<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Autores: Marcus Fernando Kodama Pertille Ramos e \u00cdtalo Beltr\u00e3o Pereira Sim\u00f5es A maioria dos&hellip;<\/p>\n","protected":false},"author":5592,"featured_media":13692,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"","_lmt_disable":"","footnotes":""},"categories":[151],"tags":[327,480,479,482,481,351],"ano":[309],"tipo":[],"volume":[147],"class_list":["post-13691","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-assuntosgerais","tag-cancer-gastrico","tag-gapps","tag-map","tag-mutyh","tag-peutz-jeghers","tag-polipose-juvenil","ano-309","volume-volume-ii"],"yoast_head":"<!-- This site is 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