{"id":26828,"date":"2025-06-24T14:25:45","date_gmt":"2025-06-24T12:25:45","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/detectia-mutatiilor-in-gena-braf-in-cancerul-colorectal-5-mutatii-in-codonul-600-v600e-k-d-r-m-tesut-inclus-in-parafina\/"},"modified":"2026-02-27T17:54:04","modified_gmt":"2026-02-27T15:54:04","slug":"detectia-mutatiilor-in-gena-braf-in-cancerul-colorectal-5-mutatii-in-codonul-600-v600e-k-d-r-m-tesut-inclus-in-parafina","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-oncogenetica\/detectia-mutatiilor-in-gena-braf-in-cancerul-colorectal-5-mutatii-in-codonul-600-v600e-k-d-r-m-tesut-inclus-in-parafina\/","title":{"rendered":"Detectia mutatiilor in gena BRAF in cancerul colorectal (5 mutatii in codonul 600: V600E\/K\/D\/R\/M) (tesut inclus in parafina)"},"content":{"rendered":"<p><strong>Cancerul colorectal<\/strong> are o patogenez\u0103 complex\u0103, care implic\u0103 at\u00e2t factori de mediu, c\u00e2t \u0219i factori genetici, reprezenta\u021bi de acumularea diverselor muta\u021bii genetice \u0219i epigenetice.<\/p>\n<\/p>\n<p>\u00cen ciuda eficien\u021bei programelor de screening \u00een reducerea mortalit\u0103\u021bii \u0219i morbidit\u0103\u021bii asociate cu CRC, aproximativ 20\u201323% dintre pacien\u021bi sunt diagnostica\u021bi ini\u021bial cu cancer colorectal metastatic (CRCm), av\u00e2nd o rat\u0103 de supravie\u021buire la 5 ani de aproximativ 13%. \u00cen acest context, stabilirea profilului molecular al tumorii are un rol esen\u021bial.<\/p>\n<\/p>\n<p>Conform ghidurilor NCCN, analizele genetice pentru CRC sunt recomandate \u00eenainte de ini\u021bierea tratamentului \u0219i includ detec\u021bia muta\u021biilor \u00een genele RAS \u0219i BRAF.<\/p>\n<\/p>\n<p><strong>Gena BRAF<\/strong> codific\u0103 o serin\/treonin-kinaz\u0103 cu rol fundamental \u00een proliferarea tumoral\u0103, diferen\u021biere, angiogenez\u0103 \u0219i metastazare. Prezen\u021ba muta\u021biilor BRAF \u00een CRC, similar muta\u021biilor RAS, este asociat\u0103 cu rezisten\u021ba la terapia \u021bintit\u0103 cu anticorpi monoclonali anti-EGFR.<\/p>\n<\/p>\n<p><strong>Testarea muta\u021biilor BRAF<\/strong> este de importan\u021b\u0103 major\u0103 pentru stabilirea conduitei terapeutice la pacien\u021bii cu CRC metastatic. \u00cen acest scop au fost dezvoltate numeroase tehnologii de diagnostic molecular, printre care \u0219i metoda Real-Time PCR, utilizat\u0103 \u00een cadrul laboratorului nostru. Aceasta permite identificarea corect\u0103 \u0219i rapid\u0103 a muta\u021biilor V600, inclusiv V600E, \u00een gena BRAF, din probe de \u021besut tumoral incluse \u00een parafin\u0103 (FFPE).<\/p>\n<\/p>\n<p><strong style=\"color: #ff9900\">Afec\u021biuni \u0219i simptome asociate:<\/strong><\/p>\n<\/p>\n<p><span style=\"background-color: #fefefe;color: black\">Cancerul colorectal reprezint\u0103 o afec\u021biune malign\u0103 a ultimei por\u021biuni a tubului digestiv, care cuprinde colonul (intestinul gros) \u0219i rectul. Boala se poate dezvolta la nivelul colonului \u2014 <\/span><strong style=\"background-color: #fefefe;color: black\">cancer de colon<\/strong><span style=\"background-color: #fefefe;color: black\">, sau la nivelul rectului (segmentul terminal al colonului) \u2014 <\/span><strong style=\"background-color: #fefefe;color: black\">cancer rectal<\/strong><span style=\"background-color: #fefefe;color: black\">.<\/span><\/p>\n<\/p>\n<p><span style=\"background-color: #fefefe;color: black\">Afec\u021biunile asociate cancerului colorectal includ:<\/span><\/p>\n<\/p>\n<ul>\n<li><span style=\"background-color: #fefefe\">boli inflamatorii intestinale (boala Crohn, colita ulcerativ\u0103);<\/span><\/li>\n<li><span style=\"background-color: #fefefe\">polipi adenomato\u0219i (care pot degenera \u00een cancer);<\/span><\/li>\n<li><span style=\"background-color: #fefefe\">sindroame ereditare (polipoz\u0103 adenomatoas\u0103 familial\u0103, sindrom Lynch);<\/span><\/li>\n<li><span style=\"background-color: #fefefe\">obezitate;<\/span><\/li>\n<li><span style=\"background-color: #fefefe\">diabet zaharat.<\/span><\/li>\n<\/ul>\n<p><span style=\"background-color: #fefefe;color: black\">Complica\u021biile cancerului colorectal pot include ocluzii intestinale, perfora\u021bii, s\u00e2nger\u0103ri severe \u0219i anemie.<\/span><\/p>\n<\/p>\n<p><span style=\"background-color: #fefefe;color: black\">Manifest\u0103rile clinice \u00eent\u00e2lnite la pacien\u021bii cu tumori maligne colorectale sunt variate \u0219i pot include:<\/span><\/p>\n<\/p>\n<ul>\n<li><span style=\"background-color: #fefefe\">tulbur\u0103ri ale tranzitului intestinal, de la constipa\u021bie la diaree;<\/span><\/li>\n<li><span style=\"background-color: #fefefe\">modificarea aspectului materiilor fecale;<\/span><\/li>\n<li><span style=\"background-color: #fefefe\">prezen\u021ba de s\u00e2nge \u00een scaun sau eliminarea de s\u00e2nge proasp\u0103t pe cale rectal\u0103;<\/span><\/li>\n<li><span style=\"background-color: #fefefe\">distensie abdominal\u0103 gazoas\u0103;<\/span><\/li>\n<li><span style=\"background-color: #fefefe\">senza\u021bia de defeca\u021bie incomplet\u0103;<\/span><\/li>\n<li><span style=\"background-color: #fefefe\">dureri abdominale;<\/span><\/li>\n<li><span style=\"background-color: #fefefe\">fatigabilitate \u0219i stare general\u0103 de sl\u0103biciune;<\/span><\/li>\n<li><span style=\"background-color: #fefefe\">pierdere \u00een greutate neinten\u021bionat\u0103.<\/span><\/li>\n<\/ul>\n<p><span style=\"background-color: #fefefe;color: black\">De asemenea, pot ap\u0103rea \u0219i alte semne sistemice: oboseal\u0103 excesiv\u0103, sl\u0103biciune fizic\u0103 inexplicabil\u0103, pierdere ponderal\u0103 semnificativ\u0103, icter sclero-tegumentar, edeme ale membrelor inferioare \u0219i\/sau superioare, precum \u0219i fracturi osoase spontane \u2014 manifest\u0103ri posibile ale stadiilor avansate de cancer colorectal.<\/span><\/p>\n<\/p>\n<p><strong style=\"color: #ff9900\">Cui se adreseaz\u0103 analiza<\/strong><\/p>\n<\/p>\n<p class=\"ql-align-justify\">Testarea muta\u021biei BRAF se adreseaz\u0103 pacien\u021bilor diagnostica\u021bi cu cancer colorectal (f\u0103r\u0103 muta\u021bii \u00een genele KRAS \u0219i NRAS), \u00een vederea personaliz\u0103rii strategiei de tratament \u0219i a stabilirii conduitei terapeutice optime.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Metodologie de testare<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Testul presupune extrac\u021bia ADN din \u021besut tumoral inclus \u00een parafin\u0103 (FFPE), urmat\u0103 de cuantificarea acestuia prin metode spectrofotometrice \u0219i fluorimetrice, pentru determinarea calit\u0103\u021bii \u0219i a cantit\u0103\u021bii probei.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Ulterior, ADN-ul este amplificat prin tehnologie Real-Time PCR, metod\u0103 ce permite detec\u021bia precis\u0103 \u0219i rapid\u0103 a muta\u021biilor localizate la nivelul codonului 600 din gena BRAF.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Caracterizarea molecular\u0103 a cancerului colorectal metastatic (CRCm) este esen\u021bial\u0103 pentru alegerea terapiilor care vizeaz\u0103 direct particularit\u0103\u021bile biologice ale tumorii, \u00een subseturi specifice de pacien\u021bi.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Diagnosticarea timpurie a CRC cre\u0219te speran\u021ba de via\u021b\u0103 \u0219i \u0219ansele de remisie complet\u0103 \u00een urma tratamentului adecvat. Screeningul cancerului colorectal este recomandat tuturor persoanelor \u00eencep\u00e2nd cu v\u00e2rsta de 50 de ani, sau mai devreme la cei cu antecedente personale ori familiale de boal\u0103 neoplazic\u0103 colorectal\u0103.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">La pacien\u021bii cu CRC, testarea BRAF \u00eempreun\u0103 cu testarea RAS reprezint\u0103 o etap\u0103 consacrat\u0103 a diagnosticului molecular, efectuat\u0103 \u00eenaintea ini\u021bierii terapiei de prim\u0103 linie, conform ghidurilor interna\u021bionale actuale (ASCO \/ ESMO \/ NCCN).<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Muta\u021biile activatoare BRAF \u2013 muta\u021bii \u201edriver\u201d \u00een CRC \u2013 sunt:<\/strong><\/p>\n<\/p>\n<ul>\n<li>\u00eent\u00e2lnite la 5\u201312% dintre pacien\u021bii cu CRC metastatic; peste 90% dintre ace\u0219tia prezint\u0103 muta\u021bia BRAF V600E, mutual exclusiv\u0103 cu muta\u021biile RAS;<\/li>\n<li>asociate frecvent cu:\n<ul>\n<li>sexul feminin,<\/li>\n<li>v\u00e2rsta \u00eenaintat\u0103 (&gt;70 ani),<\/li>\n<li>stadiu avansat de boal\u0103 (metastaze peritoneale \u0219i ganglionare la distan\u021b\u0103),<\/li>\n<li>localizare proximal\u0103 a tumorii,<\/li>\n<li>adenoame serate sesile,<\/li>\n<li>rezisten\u021b\u0103 la schemele de tratament standard,<\/li>\n<li>prognostic nefavorabil;<\/li>\n<\/ul>\n<\/li>\n<li>variabile ca prevalen\u021b\u0103 \u0219i impact terapeutic, \u00een func\u021bie de tipul de cancer.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Importan\u021ba detec\u021biei muta\u021biilor V600 \u00een gena BRAF \u00een cancerul colorectal:<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li>ob\u021binerea unui rezultat concret, \u00een timp scurt;<\/li>\n<li>diagnosticare timpurie a cancerului colorectal;<\/li>\n<li>stabilirea unui diagnostic de certitudine \u2013 CRC sporadic vs. CRC ereditar (sindrom Lynch);<\/li>\n<li>identificarea op\u021biunilor terapeutice compatibile cu profilul molecular al tumorii, inclusiv excluderea terapiei cu anticorpi monoclonali anti-EGFR la pacien\u021bii BRAF V600E pozitivi;<\/li>\n<li>monitorizarea periodic\u0103 a pacien\u021bilor CRCm pozitivi pentru detec\u021bia precoce a progresiei bolii \u0219i adaptarea tratamentului;<\/li>\n<li>furnizarea de informa\u021bii privind prognosticul bolii (evolu\u021bie agresiv\u0103, rat\u0103 de supravie\u021buire redus\u0103).<\/li>\n<\/ul>\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Particularit\u0103\u021bi<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Detec\u021bia muta\u021biilor \u00een gena BRAF se realizeaz\u0103 prin metoda Real-Time PCR, o tehnic\u0103 molecular\u0103 precis\u0103 \u0219i relativ simpl\u0103, care prezint\u0103 urm\u0103toarele caracteristici:<\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li>Cost redus \u0219i timp scurt de analiz\u0103, comparativ cu tehnologia NGS (Next-Generation Sequencing);<\/li>\n<li>Sensibilitate crescut\u0103 \u2013 permite amplificarea chiar \u0219i a unor cantit\u0103\u021bi reduse de ADN, aspect esen\u021bial \u00een analiza probelor provenite din \u021besut tumoral inclus \u00een parafin\u0103, unde materialul genetic este adesea limitat;<\/li>\n<li>Specificitate ridicat\u0103 pentru muta\u021biile analizate \u2013 asigur\u0103 detec\u021bia variantelor prezente \u00eentr-o propor\u021bie redus\u0103 \u00een proba tumoral\u0103;<\/li>\n<li>Robuste\u021be \u2013 metoda ofer\u0103 rezultate fiabile chiar \u0219i atunci c\u00e2nd calitatea ADN-ului genomic tumoral este suboptim\u0103, fiind ideal\u0103 pentru probele FFPE (formalin-fixed paraffin-embedded), unde predomin\u0103 fragmentele scurte de ADN;<\/li>\n<li>Limit\u0103 de detec\u021bie sc\u0103zut\u0103 \u2013 permite identificarea variantelor cu frecven\u021be alelice reduse (p\u00e2n\u0103 la 1% ADN mutant \u00eentr-un fundal de 99% ADN normal), inclusiv \u00een biopsii cu con\u021binut tumoral sc\u0103zut.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Limit\u0103ri<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li>Testarea vizeaz\u0103 \u00een principal muta\u021biile V600; variantele non-V600 pot necesita analize suplimentare prin metode complementare (ex. NGS);<\/li>\n<li>Nu permite detec\u021bia tuturor muta\u021biilor rare ale genei BRAF \u0219i nici a altor mecanisme de rezisten\u021b\u0103 la terapiile \u021bintite;<\/li>\n<li>Probele de calitate redus\u0103 \u2013 material tisular insuficient, procent tumoral &lt;2%, concentra\u021bie ADN &lt;1 ng sau ADN degradat \u00een urma procesului de includere \u00een parafin\u0103 \u2013 pot genera date de calitate inferioar\u0103, improprii ob\u021binerii unui rezultat concludent;<\/li>\n<li>Rezultatele negative (muta\u021bii nedetectate) nu exclud prezen\u021ba unor muta\u021bii care nu sunt incluse \u00een kitul utilizat pentru testare.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Recoltare \u0219i condi\u021bii:<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><span style=\"color: #231f20\">Testul se realizeaz\u0103 pe sectiuni de tesut inclus \u00een parafin\u0103 (FFPE),\u00een general cu grosimea de 5 microni,\u0219i etalate pe lama microscopic\u0103, f\u0103r\u0103 a fi colorate prin coloratia clasic\u0103 cu hematoxilin-eozina. Medicul anatomo-patolog indic\u0103 o zona cu celularitate tumoral\u0103 crescut\u0103, si cu zone de necroz\u0103, fibroz\u0103 sau infiltrat inflamator c\u00e2t mai reduse, de unde se va efectua extractia de ADN. Testarea genetic\u0103 pentru detectia mutatiilor in gena BRAF, se realizeaz\u0103 prin metoda Real-Time PCR.<\/span><\/p>\n<p class=\"ql-align-justify\">\n<p><strong style=\"color: #ff9900\">Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>Panel genetic somatic cancer colon din biopsie lichida &#8211; 14 gene<\/li>\n<li>Panel genetic somatic cancer colorectal [COLO1]<\/li>\n<li>Panel genetic somatic cancer colorectal [COLO2]<\/li>\n<li>Panel genetic somatic pan-cancer din biopsie lichida &#8211; 52 gene<\/li>\n<li>Panel 52 gene relevante in tumori solide Oncomine Focus Assay ADN + ARN<\/li>\n<\/ul>\n<h1><\/h1>\n<\/p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>La nivel mondial, cancerul colorectal (CRC) ocup\u0103 a treia pozi\u021bie \u00een clasamentul celor mai frecvente forme de cancer diagnosticate \u0219i a doua pozi\u021bie \u00eentre cauzele de mortalitate oncologic\u0103.<\/p>\n<p>CRC metastatic, pozitiv pentru muta\u021bia <strong>BRAF V600E<\/strong>, reprezint\u0103 un fenotip molecular distinct, caracterizat prin comportament biologic agresiv, rezisten\u021b\u0103 la terapiile standard \u0219i rat\u0103 sc\u0103zut\u0103 de supravie\u021buire.<\/p>\n<p>Muta\u021bia activatoare <strong>BRAF V600E<\/strong>, identificat\u0103 \u00een aproximativ 8\u201312% dintre cazurile de CRC metastatic, stimuleaz\u0103 cre\u0219terea tumoral\u0103 \u0219i poate reprezenta un eveniment precoce \u00een progresia bolii.<\/p>\n<p>Detec\u021bia acestei muta\u021bii contribuie la stabilirea strategiei terapeutice, viz\u00e2nd dep\u0103\u0219irea mecanismelor de rezisten\u021b\u0103 \u0219i cre\u0219terea speran\u021bei de via\u021b\u0103 la pacien\u021bii cu CRC metastatic.<\/p>\n<p>Analiza se realizeaz\u0103 prin tehnologie <strong>Real-Time PCR<\/strong>, care permite detec\u021bia calitativ\u0103 a cinci muta\u021bii localizate \u00een exonul 15, codonul 600 \u2014 cea mai frecvent\u0103 dintre acestea fiind muta\u021bia <strong>V600E<\/strong>.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3165,2876],"product_tag":[],"class_list":["post-26828","product","type-product","status-publish","product_cat-analize","product_cat-oncogenetica","product_cat-serviciu-laborator","pa_medical-conditions-cancer-colorectal","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 4.9.10 - aioseo.com -->\n\t<meta name=\"description\" content=\"La nivel mondial, cancerul colorectal (CRC) ocup\u0103 a treia pozi\u021bie \u00een clasamentul celor mai frecvente forme de cancer diagnosticate \u0219i a doua pozi\u021bie \u00eentre cauzele de mortalitate oncologic\u0103.CRC metastatic, pozitiv pentru muta\u021bia BRAF V600E, reprezint\u0103 un fenotip molecular distinct, caracterizat prin comportament biologic agresiv, rezisten\u021b\u0103 la terapiile standard \u0219i rat\u0103 sc\u0103zut\u0103 de supravie\u021buire.Muta\u021bia activatoare BRAF V600E, identificat\u0103 \u00een aproximativ 8\u201312% dintre cazurile de CRC metastatic, stimuleaz\u0103 cre\u0219terea tumoral\u0103 \u0219i poate reprezenta un eveniment precoce \u00een progresia bolii.Detec\u021bia acestei muta\u021bii contribuie la stabilirea strategiei terapeutice, viz\u00e2nd dep\u0103\u0219irea mecanismelor de rezisten\u021b\u0103 \u0219i cre\u0219terea speran\u021bei de via\u021b\u0103 la pacien\u021bii cu CRC metastatic.Analiza se realizeaz\u0103 prin tehnologie Real-Time PCR, care permite detec\u021bia calitativ\u0103 a cinci muta\u021bii localizate \u00een exonul 15, codonul 600 \u2014 cea mai frecvent\u0103 dintre acestea fiind muta\u021bia V600E.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" 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de mortalitate oncologic\u0103.CRC metastatic, pozitiv pentru muta\u021bia BRAF V600E, reprezint\u0103 un fenotip molecular distinct, caracterizat prin comportament biologic agresiv, rezisten\u021b\u0103 la terapiile standard \u0219i rat\u0103 sc\u0103zut\u0103 de supravie\u021buire.Muta\u021bia activatoare BRAF V600E, identificat\u0103 \u00een aproximativ 8\u201312% dintre cazurile de CRC metastatic, stimuleaz\u0103 cre\u0219terea tumoral\u0103 \u0219i poate reprezenta un eveniment precoce \u00een progresia bolii.Detec\u021bia acestei muta\u021bii contribuie la stabilirea strategiei terapeutice, viz\u00e2nd dep\u0103\u0219irea mecanismelor de rezisten\u021b\u0103 \u0219i cre\u0219terea speran\u021bei de via\u021b\u0103 la pacien\u021bii cu CRC metastatic.Analiza se realizeaz\u0103 prin tehnologie Real-Time PCR, care permite detec\u021bia calitativ\u0103 a cinci muta\u021bii localizate \u00een exonul 15, codonul 600 \u2014 cea mai frecvent\u0103 dintre acestea fiind muta\u021bia V600E.\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-oncogenetica\/detectia-mutatiilor-in-gena-braf-in-cancerul-colorectal-5-mutatii-in-codonul-600-v600e-k-d-r-m-tesut-inclus-in-parafina\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-06-24T12:25:45+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-02-27T15:54:04+00:00\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:title\" content=\"Detectia mutatiilor in gena BRAF in cancerul colorectal (5 mutatii in codonul 600: V600E\/K\/D\/R\/M) (tesut inclus in parafina) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta name=\"twitter:description\" content=\"La nivel mondial, cancerul colorectal (CRC) ocup\u0103 a treia pozi\u021bie \u00een clasamentul celor mai frecvente forme de cancer diagnosticate \u0219i a doua pozi\u021bie \u00eentre cauzele de mortalitate oncologic\u0103.CRC 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