{"id":26096,"date":"2024-07-04T09:43:42","date_gmt":"2024-07-04T07:43:42","guid":{"rendered":"https:\/\/idibell.cat\/?p=26096"},"modified":"2024-07-04T09:43:42","modified_gmt":"2024-07-04T07:43:42","slug":"un-test-genetic-permetra-millorar-el-diagnostic-duna-sindrome-minoritaria-de-predisposicio-al-cancer-en-nens","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2024\/07\/un-test-genetic-permetra-millorar-el-diagnostic-duna-sindrome-minoritaria-de-predisposicio-al-cancer-en-nens\/","title":{"rendered":"Un test gen\u00e8tic permetr\u00e0 millorar el diagn\u00f2stic d\u2019una s\u00edndrome minorit\u00e0ria de predisposici\u00f3 al c\u00e0ncer en nens"},"content":{"rendered":"<p>La <strong>CMMRD<\/strong>, s\u00edndrome de defici\u00e8ncia constitucional de reparaci\u00f3 d\u2019errors d\u2019aparellament per les seves sigles en angl\u00e8s, \u00e9s una <strong>s\u00edndrome de predisposici\u00f3 al c\u00e0ncer<\/strong> que, tot i ser minorit\u00e0ria, \u00e9s molt agressiva i penetrant: <strong>el 90% dels infants afectats desenvoluparan un tumor abans d\u2019arribar als 20 anys<\/strong>. La causa s\u00f3n mutacions heretades en els gens encarregats de corregir errors d\u2019aparellament de l\u2019ADN. La pres\u00e8ncia de m\u00faltiples pseudogens i la identificaci\u00f3 de variants de significat desconegut en <strong>dificulta el diagn\u00f2stic gen\u00e8tic<\/strong>. A nivell cl\u00ednic tampoc \u00e9s f\u00e0cil d\u2019identificar perqu\u00e8 el ventall de manifestacions \u00e9s ampli i es solapa amb altres s\u00edndromes.<\/p>\n<p>Per fer front a aquests problemes, un grup de recerca liderat pels <strong>Drs Gabriel Capell\u00e1 i Marta Pineda<\/strong> i format per investigadors de l\u2019IDIBELL, l\u2019ICO i el CIBERONC, <strong>ha desenvolupat i validat el test gen\u00e8tic hs-MSI<\/strong>. Analitzant els errors que s\u2019acumulen en 192 regions repetitives del genoma anomenades microsat\u00e8l\u00b7lits, aquest test determina en una mostra de sang si el pacient pateix CMMRD o no. A m\u00e9s, en aquesta \u00faltima publicaci\u00f3 de la revista <em>Clinical Chemistry<\/em>, demostren com <strong>el test detecta amb elevada sensibilitat els errors en els microsat\u00e8l\u00b7lits tamb\u00e9 en tots els tipus de tumors provocats per la s\u00edndrome, el qual representa una gran millora respecte els tests tradicionals, que tenien una sensibilitat del 18%<\/strong>. La identificaci\u00f3 d\u2019aquesta caracter\u00edstica els fa <strong>candidats a ser tractats amb immunoter\u00e0pia<\/strong>, el qual permet millorar el pron\u00f2stic cl\u00ednic dels infants.<\/p>\n<p>Tal com explica la <strong>Dra F\u00e1tima Mar\u00edn<\/strong>, primera firmant d\u2019aquest article, \u201c<em>amb aquest estudi <strong>confirmem l\u2019efic\u00e0cia del test hs-MSI per diagnosticar la CMMRD<\/strong>. Es preveu que el test s\u2019implementi a la Unitat de Diagn\u00f2stic Molecular de l\u2019ICO i <strong>sigui accessible als professionals sanitaris<\/strong><\/em>\u201d. A m\u00e9s, la Dra indica que \u201c<strong><em>s\u2019ha iniciat un estudi a nivell nacional <\/em><\/strong><em>en que es fa aquest test a tots els nens amb certs tipus de c\u00e0ncer pedi\u00e0tric per tal de millorar la identificaci\u00f3 de la CMMRD i aix\u00ed <strong>oferir tractaments m\u00e9s efica\u00e7os i un millor assessorament gen\u00e8tic<\/strong> a les fam\u00edlies afectades<\/em>.\u201d<\/p>\n<p>Aquest estudi ha estat possible gr\u00e0cies al finan\u00e7ament de la Fundaci\u00f3 La Marat\u00f3 de 3Cat concedit dins la convocat\u00f2ria de 2019 sobre malalties minorit\u00e0ries.<\/p>\n<p><em>\u00a0<\/em><\/p>\n<p>&nbsp;<\/p>\n<p><em>L\u2019Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) \u00e9s un centre de recerca en biomedicina creat l\u2019any 2004. Est\u00e0 participat per l&#8217;Hospital Universitari de Bellvitge i l\u2019Hospital de Viladecans de l&#8217;Institut Catal\u00e0 de la Salut, l&#8217;Institut Catal\u00e0 d&#8217;Oncologia, la Universitat de Barcelona i l\u2019Ajuntament de l\u2019Hospitalet de Llobregat.<\/em><\/p>\n<p><em>L\u2019IDIBELL \u00e9s membre del Campus d&#8217;Excel\u00b7l\u00e8ncia Internacional de la Universitat de Barcelona HUBc i forma part de la instituci\u00f3 CERCA de la Generalitat de Catalunya. L&#8217;any 2009 es va convertir en un dels cinc primers centres d\u2019investigaci\u00f3 espanyols acreditats com a institut d\u2019investigaci\u00f3 sanit\u00e0ria per l\u2019Instituto de Salud Carlos III. A m\u00e9s, forma part del programa \u201cHR Excellence in Research\u201d de la Uni\u00f3 Europea i \u00e9s membre de EATRIS i REGIC. Des de l\u2019any 2018, l\u2019IDIBELL \u00e9s un Centro Acreditado de la Fundaci\u00f3n Cient\u00edfica AECC (FCAECC).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Els investigadors han desenvolupat i validat el test gen\u00e8tic hs-MSI, que determina en una mostra de sang o de tumor si el pacient pateix CMMRD, una s\u00edndrome minorit\u00e0ria de predisposici\u00f3 al c\u00e0ncer en nens. L\u2019an\u00e0lisi de nom\u00e9s una selecci\u00f3 de segments gen\u00e8tics permet que aquest test sigui r\u00e0pid i accessible pels professionals sanitaris.<\/p>\n","protected":false},"author":8,"featured_media":26097,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","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":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[332,417,447],"tags":[],"class_list":["post-26096","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-cancer","category-cancer-hereditari-noticies","category-p-de-mecanismes-molelculars-i-terapia-experimental-en-oncologia-oncobell"],"publishpress_future_action":{"enabled":false,"date":"2024-12-29 09:28:29","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/26096","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=26096"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/26096\/revisions"}],"predecessor-version":[{"id":26098,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/26096\/revisions\/26098"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/26097"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=26096"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=26096"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=26096"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}