{"id":27665,"date":"2025-06-24T16:47:58","date_gmt":"2025-06-24T13:47:58","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/detectie-mutatie-de-rezistenta-la-terapia-cu-inhibitori-tirozin-kinazici-domeniul-tirozin-kinazic-abl-ablr\/"},"modified":"2026-06-30T16:01:33","modified_gmt":"2026-06-30T13:01:33","slug":"detectie-mutatie-de-rezistenta-la-terapia-cu-inhibitori-tirozin-kinazici-domeniul-tirozin-kinazic-abl-ablr","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-farmacogenetica-si-farmacogenomica\/detectie-mutatie-de-rezistenta-la-terapia-cu-inhibitori-tirozin-kinazici-domeniul-tirozin-kinazic-abl-ablr\/","title":{"rendered":"Detectie mutatie de rezistenta la terapia cu inhibitori tirozin-kinazici (domeniul tirozin-kinazic ABL) [ABLR]"},"content":{"rendered":"<p>Tratamentul standard al leucemiei mieloide cronice se bazeaz\u0103 pe administrarea inhibitorilor de tirozin-kinaz\u0103 (TKI), precum:<\/p>\n<ul>\n<li>Imatinib<\/li>\n<li>Dasatinib<\/li>\n<li>Nilotinib<\/li>\n<li>Bosutinib<\/li>\n<li>Ponatinib<\/li>\n<li>Asciminib<\/li>\n<\/ul>\n<p>\u00cen timp, sub presiunea terapeutic\u0103, unele clone leucemice pot dezvolta muta\u021bii \u00een domeniul tirozin-kinazic al genei <strong>ABL1<\/strong>, determin\u00e2nd reducerea sensibilit\u0103\u021bii sau rezisten\u021ba complet\u0103 la unul sau mai mul\u021bi inhibitori TKI.<\/p>\n<p>Analiza ABLR permite identificarea acestor muta\u021bii \u0219i contribuie la alegerea celui mai eficient tratament \u021bintit.<\/p>\n<h3>Printre cele mai importante muta\u021bii investigate se num\u0103r\u0103:<\/h3>\n<ul>\n<li>T315I<\/li>\n<li>Y253H<\/li>\n<li>E255K\/V<\/li>\n<li>F317L<\/li>\n<li>F359V\/C\/I<\/li>\n<li>M351T<\/li>\n<li>G250E<\/li>\n<li>H396R\/P<\/li>\n<\/ul>\n<p>Rezultatul testului are impact direct asupra strategiei terapeutice \u0219i reprezint\u0103 o recomandare standard \u00een monitorizarea pacien\u021bilor care prezint\u0103 r\u0103spuns insuficient sau pierderea r\u0103spunsului la tratament.<\/p>\n<h3>Indica\u021bii de testare<\/h3>\n<ul>\n<li>Leucemie mieloid\u0103 cronic\u0103 (LMC) BCR::ABL1 pozitiv\u0103<\/li>\n<li>Pierderea r\u0103spunsului hematologic, citogenetic sau molecular<\/li>\n<li>Cre\u0219terea nivelului transcriptului BCR::ABL1 la monitorizare<\/li>\n<li>Suspiciune de rezisten\u021b\u0103 la inhibitorii de tirozin-kinaz\u0103<\/li>\n<li>Alegerea unui TKI de genera\u021bie urm\u0103toare<\/li>\n<li>Monitorizarea progresiei bolii<\/li>\n<li>Evaluarea pacien\u021bilor \u00eenaintea modific\u0103rii tratamentului<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>Pacien\u021bilor cu leucemie mieloid\u0103 cronic\u0103<\/li>\n<li>Pacien\u021bilor cu neoplazii hematologice BCR::ABL1 pozitive<\/li>\n<li>Medicilor hematologi<\/li>\n<li>Centrelor de hematologie \u0219i oncologie<\/li>\n<li>Pacien\u021bilor afla\u021bi sub tratament cu inhibitori de tirozin-kinaz\u0103<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<ul>\n<li>Extrac\u021bie ARN din s\u00e2nge periferic sau m\u0103duv\u0103 osoas\u0103<\/li>\n<li>Amplificarea transcriptului <strong>BCR::ABL1<\/strong><\/li>\n<li>Analiza molecular\u0103 a domeniului tirozin-kinazic ABL1<\/li>\n<li>Secven\u021biere pentru identificarea muta\u021biilor asociate rezisten\u021bei terapeutice<\/li>\n<li>Interpretare conform recomand\u0103rilor interna\u021bionale ELN (European LeukemiaNet)<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>Identific\u0103 mecanismele moleculare de rezisten\u021b\u0103 la TKI<\/li>\n<li>Permite alegerea personalizat\u0103 a tratamentului<\/li>\n<li>Evit\u0103 administrarea unor terapii ineficiente<\/li>\n<li>Optimizeaz\u0103 prognosticul \u0219i controlul bolii<\/li>\n<li>Sprijin\u0103 monitorizarea pacien\u021bilor cu LMC<\/li>\n<li>Contribuie la medicina personalizat\u0103 \u00een hematologie<\/li>\n<li>Ghideaz\u0103 deciziile terapeutice conform ghidurilor interna\u021bionale<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<h3>Monitorizarea leucemiei mieloide cronice<\/h3>\n<ul>\n<li>BCR::ABL1 cantitativ (International Scale \u2013 IS)<\/li>\n<li>BCR::ABL1 calitativ<\/li>\n<li>Hemoleucogram\u0103 complet\u0103<\/li>\n<li>Mielogram\u0103<\/li>\n<li>Biopsie osteomedular\u0103 (la nevoie)<\/li>\n<\/ul>\n<h3>Investiga\u021bii citogenetice<\/h3>\n<ul>\n<li>Cariotip medular<\/li>\n<li>FISH pentru BCR::ABL1<\/li>\n<li>Analize cromozomiale suplimentare \u00een caz de progresie<\/li>\n<\/ul>\n<h3>Monitorizare biologic\u0103<\/h3>\n<ul>\n<li>LDH<\/li>\n<li>Acid uric<\/li>\n<li>Func\u021bie hepatic\u0103 (ALT, AST, GGT)<\/li>\n<li>Func\u021bie renal\u0103 (creatinin\u0103, eGFR)<\/li>\n<\/ul>\n<h3>Prob\u0103 recoltat\u0103 \/ condi\u021bii analiz\u0103<\/h3>\n<h3>S\u00e2nge periferic EDTA<\/h3>\n<ul>\n<li>Recoltarea se efectueaz\u0103 \u00eenaintea administr\u0103rii tratamentului sau conform protocolului de monitorizare<\/li>\n<li>Transport conform cerin\u021belor laboratorului<\/li>\n<\/ul>\n<h3>Documente necesare<\/h3>\n<ul>\n<li>Recomandare medical\u0103 hematologic\u0103<\/li>\n<li>Diagnostic confirmat de leucemie mieloid\u0103 cronic\u0103 sau alt\u0103 hemopatie BCR::ABL1 pozitiv\u0103<\/li>\n<li>Rezultate anterioare BCR::ABL1 (dac\u0103 exist\u0103)<\/li>\n<li>Informa\u021bii privind tratamentul actual cu TKI<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>ABL kinase domain mutation analysis<\/li>\n<li>ABL1 mutation screening<\/li>\n<li>Tyrosine kinase inhibitor resistance testing<\/li>\n<li>BCR-ABL muta\u021bie de rezisten\u021b\u0103<\/li>\n<li>ABL kinase domain sequencing<\/li>\n<li>TKI resistance mutation panel<\/li>\n<li>ABLR test<\/li>\n<li>BCR::ABL1 resistance mutation detection<\/li>\n<li>Chronic myeloid leukemia resistance testing<\/li>\n<li>ABL1 kinase domain mutation assay<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi ale testului<\/h3>\n<p>Analiza ABLR este recomandat\u0103 \u00een special la pacien\u021bii cu <strong>leucemie mieloid\u0103 cronic\u0103<\/strong> care prezint\u0103 r\u0103spuns terapeutic insuficient sau pierderea r\u0103spunsului molecular la inhibitorii de tirozin-kinaz\u0103. Identificarea unei muta\u021bii specifice poate influen\u021ba alegerea tratamentului ulterior, anumite variante fiind asociate cu rezisten\u021b\u0103 selectiv\u0103 la anumite molecule. Un exemplu important este muta\u021bia <strong>T315I<\/strong>, care confer\u0103 rezisten\u021b\u0103 la majoritatea inhibitorilor de genera\u021bie anterioar\u0103 \u0219i necesit\u0103 abordare terapeutic\u0103 specific\u0103. Interpretarea rezultatelor trebuie realizat\u0103 \u00een corela\u021bie cu monitorizarea molecular\u0103 BCR::ABL1 \u0219i contextul clinic al pacientului.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 molecular\u0103 destinat\u0103 identific\u0103rii muta\u021biilor dob\u00e2ndite \u00een <strong>domeniul tirozin-kinazic al genei ABL1<\/strong>, asociate cu rezisten\u021ba la tratamentul cu inhibitori de tirozin-kinaz\u0103 (TKI) la pacien\u021bii diagnostica\u021bi cu <strong>leucemie mieloid\u0103 cronic\u0103 (LMC)<\/strong> sau alte neoplazii hematologice BCR::ABL1 pozitive.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3226,2876],"product_tag":[],"class_list":["post-27665","product","type-product","status-publish","product_cat-analize","product_cat-farmacogenetica-si-farmacogenomica","product_cat-serviciu-laborator","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 5.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiz\u0103 molecular\u0103 destinat\u0103 identific\u0103rii muta\u021biilor dob\u00e2ndite \u00een domeniul tirozin-kinazic al genei ABL1, asociate cu rezisten\u021ba la tratamentul cu inhibitori de tirozin-kinaz\u0103 (TKI) la pacien\u021bii diagnostica\u021bi cu leucemie mieloid\u0103 cronic\u0103 (LMC) sau alte neoplazii hematologice BCR::ABL1 pozitive.\" \/>\n\t<meta name=\"robots\" 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