{"id":111254,"date":"2026-07-10T12:41:08","date_gmt":"2026-07-10T09:41:08","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/detectia-mutatiilor-in-gena-braf-patologii-diverse-5-mutatii-in-codonul-600-v600e-k-d-r-m-tesut-inclus-in-parafina\/"},"modified":"2026-07-10T12:41:08","modified_gmt":"2026-07-10T09:41:08","slug":"detectia-mutatiilor-in-gena-braf-patologii-diverse-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-diagnostic-genetic\/detectia-mutatiilor-in-gena-braf-patologii-diverse-5-mutatii-in-codonul-600-v600e-k-d-r-m-tesut-inclus-in-parafina\/","title":{"rendered":"Detectia mutatiilor in gena BRAF \u2013 patologii diverse (5 mutatii in codonul 600: V600E\/K\/D\/R\/M) (tesut inclus in parafina)"},"content":{"rendered":"<h3>Descriere general\u0103<\/h3>\n<p>Gena <strong>BRAF<\/strong> codific\u0103 o serin\/treonin kinaz\u0103 implicat\u0103 \u00een calea de semnalizare <strong>MAPK\/ERK<\/strong>, responsabil\u0103 de reglarea:<\/p>\n<ul>\n<li>prolifer\u0103rii celulare;<\/li>\n<li>diferen\u021bierii \u0219i supravie\u021buirii celulare;<\/li>\n<li>angiogenezei;<\/li>\n<li>migra\u021biei \u0219i metastaz\u0103rii celulelor tumorale.<\/li>\n<\/ul>\n<p>Muta\u021biile activatoare localizate \u00een <strong>codonul 600 al exonului 15<\/strong> determin\u0103 activarea constitutiv\u0103 a proteinei BRAF, favoriz\u00e2nd dezvoltarea \u0219i progresia tumoral\u0103.<\/p>\n<p>Aceste muta\u021bii sunt \u00eent\u00e2lnite \u00een multiple tipuri de cancer \u0219i constituie biomarkeri moleculari utiliza\u021bi pentru alegerea terapiei \u021bintite \u0219i evaluarea prognosticului.<\/p>\n<h3>Afec\u021biuni sau simptome asociate<\/h3>\n<h3>Testarea este recomandat\u0103 \u00een special \u00een urm\u0103toarele patologii:<\/h3>\n<ul>\n<li>melanom malign;<\/li>\n<li>cancer colorectal;<\/li>\n<li>carcinom tiroidian papilar;<\/li>\n<li>carcinom tiroidian anaplazic;<\/li>\n<li>cancer pulmonar non-microcelular (NSCLC);<\/li>\n<li>glioame \u0219i alte tumori ale sistemului nervos central;<\/li>\n<li>histiocitoz\u0103 cu celule Langerhans;<\/li>\n<li>alte tumori solide pentru care ghidurile terapeutice recomand\u0103 evaluarea statusului muta\u021bional BRAF.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>pacien\u021bilor diagnostica\u021bi cu tumori solide la care este indicat\u0103 testarea BRAF;<\/li>\n<li>pacien\u021bilor eligibili pentru terapii \u021bintite anti-BRAF \u0219i\/sau anti-MEK;<\/li>\n<li>pacien\u021bilor cu boal\u0103 avansat\u0103 sau metastatic\u0103;<\/li>\n<li>cazurilor discutate \u00een cadrul comisiilor oncologice multidisciplinare (Tumor Board);<\/li>\n<li>medicilor oncologi, anatomopatologi \u0219i geneticieni implica\u021bi \u00een medicina personalizat\u0103.<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<ul>\n<li>extrac\u021bia ADN-ului din \u021besut tumoral inclus \u00een parafin\u0103 (FFPE);<\/li>\n<li>evaluarea calit\u0103\u021bii \u0219i cantit\u0103\u021bii ADN;<\/li>\n<li>amplificare prin tehnologia <strong>Real-Time PCR<\/strong>;<\/li>\n<\/ul>\n<h3>detec\u021bia calitativ\u0103 a muta\u021biilor:<\/h3>\n<ul>\n<li>V600E;<\/li>\n<li>V600K;<\/li>\n<li>V600D;<\/li>\n<li>V600R;<\/li>\n<li>V600M;<\/li>\n<li>interpretarea rezultatului conform ghidurilor interna\u021bionale \u0219i corelarea cu tabloul clinic \u0219i histopatologic.<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>identific\u0103 pacien\u021bii eligibili pentru terapii \u021bintite anti-BRAF;<\/li>\n<li>contribuie la alegerea tratamentului personalizat;<\/li>\n<li>completeaz\u0103 profilul molecular al tumorii;<\/li>\n<li>sus\u021bine medicina de precizie \u00een oncologie;<\/li>\n<li>poate influen\u021ba prognosticul \u0219i conduita terapeutic\u0103;<\/li>\n<li>contribuie la evitarea administr\u0103rii unor terapii ineficiente la pacien\u021bii f\u0103r\u0103 muta\u021bii BRAF V600;<\/li>\n<li>faciliteaz\u0103 includerea pacien\u021bilor \u00een studii clinice atunci c\u00e2nd este indicat.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n<ul>\n<li>detecteaz\u0103 exclusiv muta\u021biile <strong>V600E, V600K, V600D, V600R \u0219i V600M<\/strong>;<\/li>\n<li>nu identific\u0103 muta\u021biile BRAF localizate \u00een alte regiuni ale genei;<\/li>\n<li>nu detecteaz\u0103 alte alter\u0103ri moleculare implicate \u00een tumorigenez\u0103;<\/li>\n<li>calitatea rezultatului depinde de cantitatea \u0219i integritatea ADN-ului extras din proba FFPE;<\/li>\n<li>probele cu celularitate tumoral\u0103 redus\u0103 sau ADN degradat pot genera rezultate neconcludente;<\/li>\n<li>un rezultat negativ nu exclude existen\u021ba altor variante patogene ale genei BRAF sau a altor modific\u0103ri moleculare relevante.<\/li>\n<\/ul>\n<h3>Tip de prob\u0103<\/h3>\n<ul>\n<li>\u021besut tumoral inclus \u00een parafin\u0103 (bloc FFPE);<\/li>\n<li>sec\u021biuni histologice necolorate (lame FFPE), conform cerin\u021belor laboratorului.<\/li>\n<\/ul>\n<h3>Recoltare \u0219i condi\u021bii<\/h3>\n<ul>\n<li>proba trebuie selectat\u0103 de medicul anatomopatolog;<\/li>\n<li>se recomand\u0103 alegerea unei zone cu celularitate tumoral\u0103 adecvat\u0103;<\/li>\n<li>se evit\u0103 zonele cu necroz\u0103, fibroz\u0103 sau infiltrat inflamator extensiv;<\/li>\n<li>procentul de celule tumorale trebuie s\u0103 fie suficient pentru analiza molecular\u0103.<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>Test muta\u021bii <strong>BRAF V600<\/strong><\/li>\n<li>Detec\u021bie muta\u021bii <strong>BRAF<\/strong> prin Real-Time PCR<\/li>\n<li>Test molecular <strong>BRAF<\/strong> pentru tumori solide<\/li>\n<li>Biomarker <strong>BRAF<\/strong> pentru terapii \u021bintite<\/li>\n<li>Test genetic somatic <strong>BRAF<\/strong><\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<ul>\n<li>Panel genetic somatic pentru tumori solide (NGS);<\/li>\n<li>Panel genetic pan-cancer;<\/li>\n<li>Analiza muta\u021biilor <strong>KRAS<\/strong>, <strong>NRAS<\/strong> \u0219i <strong>EGFR<\/strong> (\u00een func\u021bie de tipul tumorii);<\/li>\n<li>Determinarea expresiei <strong>PD-L1<\/strong>;<\/li>\n<li>Testare MSI (instabilitate microsatelitar\u0103);<\/li>\n<li>Analiza fuziunilor <strong>ALK<\/strong>, <strong>ROS1<\/strong>, <strong>RET<\/strong> \u0219i <strong>NTRK<\/strong> (unde este indicat);<\/li>\n<li>Examinare histopatologic\u0103 \u0219i imunohistochimic\u0103;<\/li>\n<li>Consult oncologic \u0219i evaluare \u00een cadrul Tumor Board.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Testul identific\u0103 cele mai frecvente cinci muta\u021bii activatoare ale genei <strong>BRAF<\/strong> (V600E, V600K, V600D, V600R \u0219i V600M) prin tehnologia <strong>Real-Time PCR<\/strong>, utiliz\u00e2nd ADN extras din \u021besut tumoral inclus \u00een parafin\u0103 (FFPE). Analiza reprezint\u0103 un biomarker predictiv esen\u021bial pentru selec\u021bia pacien\u021bilor eligibili pentru terapii \u021bintite \u0219i pentru personalizarea tratamentului \u00een numeroase tumori solide.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,2876],"product_tag":[],"class_list":["post-111254","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","first","instock","sale","shipping-taxable","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 5.0.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Testul identific\u0103 cele mai frecvente cinci muta\u021bii activatoare ale genei BRAF (V600E, V600K, V600D, V600R \u0219i V600M) prin tehnologia Real-Time PCR, utiliz\u00e2nd ADN extras din \u021besut tumoral inclus \u00een parafin\u0103 (FFPE). Analiza reprezint\u0103 un biomarker predictiv esen\u021bial pentru selec\u021bia pacien\u021bilor eligibili pentru terapii \u021bintite \u0219i pentru personalizarea tratamentului \u00een numeroase tumori solide.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/detectia-mutatiilor-in-gena-braf-patologii-diverse-5-mutatii-in-codonul-600-v600e-k-d-r-m-tesut-inclus-in-parafina\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 5.0.0.1\" \/>\n\t\t<meta property=\"og:locale\" content=\"ro_RO\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Clinica Sante - Laborator de Analize Medicale - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"Detectia mutatiilor in gena BRAF \u2013 patologii diverse (5 mutatii in codonul 600: V600E\/K\/D\/R\/M) (tesut inclus in parafina) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:description\" content=\"Testul identific\u0103 cele mai frecvente cinci muta\u021bii activatoare ale genei BRAF (V600E, V600K, V600D, V600R \u0219i V600M) prin tehnologia Real-Time PCR, utiliz\u00e2nd ADN extras din \u021besut tumoral inclus \u00een parafin\u0103 (FFPE). 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