{"id":2420,"date":"2025-07-29T13:50:24","date_gmt":"2025-07-29T11:50:24","guid":{"rendered":"https:\/\/biomol.es\/?p=2420"},"modified":"2025-07-29T13:50:26","modified_gmt":"2025-07-29T11:50:26","slug":"implementacao-clinica-do-algoritmo-molecular-para-nmp-ph-negativo-em-colaboracao-com-o-hospital-de-jerez","status":"publish","type":"post","link":"https:\/\/biomol.es\/pt-pt\/implementacao-clinica-do-algoritmo-molecular-para-nmp-ph-negativo-em-colaboracao-com-o-hospital-de-jerez\/","title":{"rendered":"Implementa\u00e7\u00e3o Cl\u00ednica do Algoritmo Molecular para NMP Ph-Negativo em Colabora\u00e7\u00e3o com o Hospital de Jerez"},"content":{"rendered":"\n<p>Desde o Departamento de Suporte e Aplica\u00e7\u00f5es da BIOMOL, partilhamos um caso recente de implementa\u00e7\u00e3o de um <strong>fluxo diagn\u00f3stico completo<\/strong> para <strong>Neoplasias Mieloproliferativas Filad\u00e9lfia Negativas (NMP Ph-)<\/strong>, desenvolvido em colabora\u00e7\u00e3o com o Servi\u00e7o de Hematologia do <strong>Hospital Universit\u00e1rio de Jerez de la Frontera<\/strong>.<\/p>\n\n\n\n<p>O objetivo foi estruturar um <strong>algoritmo sequencial<\/strong> que permitisse a identifica\u00e7\u00e3o precisa de muta\u00e7\u00f5es em <strong>BCR-ABL1, JAK2, CALR e MPL<\/strong>, integrando tecnologias como <strong>PCR em tempo real, HRM<\/strong> e <strong>sequencia\u00e7\u00e3o de nova gera\u00e7\u00e3o (NGS)<\/strong>, garantindo ao mesmo tempo a <strong>padroniza\u00e7\u00e3o nas plataformas 7500 Fast e SeqStudio<\/strong>.<br><br>Padroniza\u00e7\u00e3o: Equipamentos e Protocolos<\/p>\n\n\n\n<p><strong>1. BCR-ABL1 \u2013 Rastreio e Quantifica\u00e7\u00e3o<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Para o rastreio e quantifica\u00e7\u00e3o de BCR-ABL1, foi realizada uma transi\u00e7\u00e3o do sistema <strong>LightCycler (LC)<\/strong> para o <strong>7500 Fast Real-Time PCR<\/strong> (Applied Biosystems).<\/li>\n\n\n\n<li>Esta migra\u00e7\u00e3o foi efetuada sem necessidade de modifica\u00e7\u00f5es adicionais, mantendo os padr\u00f5es de dete\u00e7\u00e3o anteriormente estabelecidos.<\/li>\n\n\n\n<li>Foi desenvolvida uma <strong>curva padr\u00e3o espec\u00edfica para a isoforma p190<\/strong>, permitindo uma quantifica\u00e7\u00e3o robusta.<\/li>\n\n\n\n<li>Tamb\u00e9m foi validada uma curva para a <strong>isoforma p210<\/strong>, embora esta continue a ser quantificada por outra metodologia, conforme decis\u00e3o do laborat\u00f3rio.<\/li>\n<\/ul>\n\n\n\n<p><strong>2. JAK2 V617F<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>O diagn\u00f3stico desta muta\u00e7\u00e3o, presente em <strong>PV, TE e MFP<\/strong>, mant\u00e9m-se com sondas e primers fornecidos pelo cliente, j\u00e1 otimizados para o sistema 7500. A interven\u00e7\u00e3o da BIOMOL n\u00e3o foi necess\u00e1ria.<\/li>\n<\/ul>\n\n\n\n<p><strong>3. JAK2 Ex\u00e3o 12 \u2013 HRM<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>O protocolo de <strong>High Resolution Melting (HRM)<\/strong> foi reinstalado no 7500, especialmente \u00fatil em casos com suspeita de <strong>Policitemia Vera<\/strong> e JAK2 negativo.<\/li>\n\n\n\n<li>Esta abordagem permite a discrimina\u00e7\u00e3o de variantes menos frequentes, n\u00e3o detetadas por ASO-PCR.<\/li>\n<\/ul>\n\n\n\n<p><strong>4. CALR \u2013 An\u00e1lise de Fragmentos<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>O ensaio de <strong>CALR<\/strong> \u00e9 realizado por an\u00e1lise de fragmentos no sistema <strong>SeqStudio<\/strong>.<\/li>\n\n\n\n<li>Foi prestado suporte t\u00e9cnico ativo, dado que o laborat\u00f3rio enfrentava dificuldades na visualiza\u00e7\u00e3o e an\u00e1lise. Ap\u00f3s o ajuste dos par\u00e2metros de eletroforese e do tamanho dos fragmentos, foram obtidos perfis interpret\u00e1veis e reprodut\u00edveis.<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<p>Resultados Cl\u00ednicos e Valida\u00e7\u00e3o<\/p>\n\n\n\n<p>O algoritmo foi aplicado a <strong>414 pacientes<\/strong> com suspeita de NMP Ph-:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>BCR-ABL1<\/strong> foi negativo em todos os casos.<\/li>\n\n\n\n<li>Foram identificados <strong>40 pacientes positivos para JAK2 V617F<\/strong>.<\/li>\n\n\n\n<li>Nos negativos para JAK2, procedeu-se \u00e0 an\u00e1lise do <strong>ex\u00e3o 12<\/strong>, seguida de <strong>sequencia\u00e7\u00e3o de CALR e MPL<\/strong>.<\/li>\n\n\n\n<li>Numa subcoorte negativa para BCR-ABL1 e JAK2, foi aplicada <strong>NGS<\/strong>, otimizando a dete\u00e7\u00e3o de muta\u00e7\u00f5es n\u00e3o cl\u00e1ssicas.<\/li>\n\n\n\n<li>Todos os resultados positivos para <strong>JAK2, CALR ou MPL<\/strong> correlacionaram-se com o diagn\u00f3stico cl\u00ednico final, o que refor\u00e7a a solidez do algoritmo proposto.<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<p>Conclus\u00f5es<\/p>\n\n\n\n<p>A colabora\u00e7\u00e3o com o Hospital Universit\u00e1rio de Jerez demonstra a import\u00e2ncia de contar com <strong>suporte t\u00e9cnico especializado<\/strong> na implementa\u00e7\u00e3o de fluxos diagn\u00f3sticos complexos em contexto cl\u00ednico.<\/p>\n\n\n\n<p>A contribui\u00e7\u00e3o da BIOMOL foi decisiva para a <strong>padroniza\u00e7\u00e3o de protocolos<\/strong>, <strong>adapta\u00e7\u00e3o das plataformas (7500 Fast e SeqStudio)<\/strong> e <strong>integra\u00e7\u00e3o de metodologias avan\u00e7adas como HRM e NGS<\/strong>. Esta abordagem estruturada permitiu garantir a <strong>rastreabilidade anal\u00edtica<\/strong> e refor\u00e7ar a fiabilidade do diagn\u00f3stico molecular em pacientes com suspeita de neoplasias mieloproliferativas.<\/p>\n\n\n\n<p>Este caso reafirma o valor de uma implementa\u00e7\u00e3o bem desenhada, alinhada com a realidade do laborat\u00f3rio, e refor\u00e7a o nosso compromisso com uma <strong>medicina de precis\u00e3o mais \u00e1gil, rastre\u00e1vel e eficaz<\/strong>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Desde o Departamento de Suporte e Aplica\u00e7\u00f5es da BIOMOL, partilhamos um caso recente de implementa\u00e7\u00e3o de um fluxo diagn\u00f3stico completo para Neoplasias Mieloproliferativas Filad\u00e9lfia Negativas (NMP Ph-), desenvolvido em colabora\u00e7\u00e3o com o Servi\u00e7o de Hematologia do Hospital Universit\u00e1rio de Jerez de la Frontera. O objetivo foi estruturar um algoritmo sequencial que permitisse a identifica\u00e7\u00e3o precisa &hellip;<\/p>\n","protected":false},"author":12,"featured_media":2372,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[38,50,51],"tags":[],"class_list":["post-2420","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-biomedicina-pt-pt","category-fragmentacao","category-ngs-3"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Implementa\u00e7\u00e3o Cl\u00ednica do Algoritmo Molecular para NMP Ph-Negativo em Colabora\u00e7\u00e3o com o Hospital de Jerez - Biomol<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/biomol.es\/pt-pt\/implementacao-clinica-do-algoritmo-molecular-para-nmp-ph-negativo-em-colaboracao-com-o-hospital-de-jerez\/\" \/>\n<meta property=\"og:locale\" content=\"pt_PT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Implementa\u00e7\u00e3o Cl\u00ednica do Algoritmo Molecular para NMP Ph-Negativo em Colabora\u00e7\u00e3o com o Hospital de Jerez - Biomol\" \/>\n<meta property=\"og:description\" content=\"Desde o Departamento de Suporte e Aplica\u00e7\u00f5es da BIOMOL, partilhamos um caso recente de implementa\u00e7\u00e3o de um fluxo diagn\u00f3stico completo para Neoplasias Mieloproliferativas Filad\u00e9lfia Negativas (NMP Ph-), desenvolvido em colabora\u00e7\u00e3o com o Servi\u00e7o de Hematologia do Hospital Universit\u00e1rio de Jerez de la Frontera. 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