{"id":27619,"date":"2025-06-24T15:45:33","date_gmt":"2025-06-24T13:45:33","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/detectia-mutatiilor-in-gena-braf-in-melanom-5-mutatii-in-codonul-600-v600e-k-d-r-m-tesut-inclus-in-parafina\/"},"modified":"2026-02-27T18:05:06","modified_gmt":"2026-02-27T16:05:06","slug":"detectia-mutatiilor-in-gena-braf-in-melanom-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-melanom-5-mutatii-in-codonul-600-v600e-k-d-r-m-tesut-inclus-in-parafina\/","title":{"rendered":"Detectia mutatiilor in gena BRAF in melanom (5 mutatii in codonul 600: V600E\/K\/D\/R\/M) (tesut inclus in parafina)"},"content":{"rendered":"<p class=\"ql-align-justify\">Melanomul malign reprezint\u0103 aproximativ 4% dintre cancerele de piele, iar inciden\u021ba sa este \u00een continu\u0103 cre\u0219tere \u00een ultimele decenii, \u00een special \u00een popula\u021bia caucazian\u0103. La nivel mondial, melanomul malign determin\u0103 aproximativ 80% dintre decesele asociate cancerului de piele.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">\u00cen etiologia melanomului sunt implica\u021bi mai mul\u021bi factori de risc:<\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li>factori de mediu \u2013 expunerea neprotejat\u0103 la radia\u021biile ultraviolete (UV), solare sau artificiale (aparate de bronzat), care deterioreaz\u0103 ADN-ul melanocitelor (celulele produc\u0103toare de melanin\u0103);<\/li>\n<li>num\u0103r mare de aluni\u021be (nevi pigmentari) \u2013 aproximativ 25% dintre melanoamele cutanate deriv\u0103 din nevi pigmentari;<\/li>\n<li>istoric familial de melanom \u2013 prezent la 5\u201315% dintre pacien\u021bii cu melanom cutanat;<\/li>\n<li>predispozi\u021bie fenotipic\u0103 \u2013 piele deschis\u0103 la culoare, sensibil\u0103 la expunerea solar\u0103;<\/li>\n<li>factori genetici \u2013\n<ul>\n<li>muta\u021bii germinale \u00een genele CDKN2A \u0219i CDK4, implicate \u00een melanomul ereditar (\u224810% dintre cazuri);<\/li>\n<li>muta\u021bii somatice \u00een gene supresoare tumorale \u0219i\/sau oncogene, responsabile de melanomul sporadic (\u224890% dintre cazuri).<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p class=\"ql-align-justify\">\u00cen func\u021bie de originea \u0219i localizarea primar\u0103, au fost descrise patru tipuri principale de melanom: cutanat, acral, mucos \u0219i uveal.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong>Melanomul cutanat<\/strong> reprezint\u0103 cea mai frecvent\u0103 \u0219i cea mai agresiv\u0103 form\u0103, caracterizat\u0103 printr-o prevalen\u021b\u0103 crescut\u0103 a muta\u021biilor somatice, at\u00e2t \u00een tumora primar\u0103, c\u00e2t \u0219i \u00een leziunile metastatice.<\/p>\n<p class=\"ql-align-justify\">Patogeneza molecular\u0103 a melanomului implic\u0103 modific\u0103ri genetice care determin\u0103 ini\u021bierea, progresia \u0219i metastazarea tumorii. Aceste modific\u0103ri afecteaz\u0103 diferite gene driver, care pot fi mutual exclusive \u00een aceea\u0219i tumor\u0103 \u2013 cum sunt muta\u021biile din genele BRAF \u0219i NRAS.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong>Gena BRAF<\/strong>, component\u0103-cheie a c\u0103ii de semnalizare MAP-kinaz\u0103, codific\u0103 o serin-treonin kinaz\u0103 cu rol fundamental \u00een proliferarea tumoral\u0103, diferen\u021biere, angiogenez\u0103 \u0219i metastazare.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong>Testarea muta\u021biilor BRAF<\/strong> este esen\u021bial\u0103 pentru stabilirea conduitei terapeutice la pacien\u021bii cu melanom. \u00cen acest scop, au fost dezvoltate numeroase tehnologii de diagnostic molecular, printre care \u0219i metoda Real-Time PCR, utilizat\u0103 \u00een cadrul laboratorului nostru, care permite identificarea corect\u0103 \u0219i rapid\u0103 a celor cinci muta\u021bii (V600E\/K\/D\/R\/M) la nivelul codonului 600, exonul 15 al genei BRAF, din probe de \u021besut tumoral incluse \u00een parafin\u0103 (FFPE).<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Afec\u021biuni \u021bi simptome asociate<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Printre bolile asociate cu risc crescut de melanom se num\u0103r\u0103:<\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li>Xeroderma pigmentosum;<\/li>\n<li>Sindromul aluni\u021belor multiple atipice familiale \u00een melanom (<em>Familial Atypical Multiple Mole Melanoma Syndrome<\/em>);<\/li>\n<li>Sindromul nevului displazic;<\/li>\n<li>Retinoblastomul familial;<\/li>\n<li>Sindromul Lynch tip II;<\/li>\n<li>Sindromul Li-Fraumeni;<\/li>\n<li>Boala inflamatorie intestinal\u0103;<\/li>\n<li>Nevii melanocitari congenitali.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\">Alte afec\u021biuni asociate melanomului pot fi determinate de metastazele ganglionare (limfadenit\u0103), limfedem (umflarea zonei \u00een care melanomul s-a extins la ganglionii limfatici), pierderea \u00een greutate, pete cutanate cu aspect cenu\u0219iu (<em>melanoz\u0103<\/em>) \u0219i, mai rar, zone depigmentate (hipopigment\u0103ri).<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Aceste manifest\u0103ri sunt semne ale <strong>progresiei melanomului c\u0103tre stadii avansate<\/strong> \u0219i necesit\u0103 diagnostic \u0219i tratament prompt, pentru a preveni evolu\u021bia rapid\u0103 spre forme severe ale bolii.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Simptomele melanomului incipient<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Simptomele melanomului aflat \u00een stadiu incipient sunt descrise prin criteriul <strong>ABCDE<\/strong>, care se refer\u0103 la:<\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li><strong>A \u2013 Asimetrie:<\/strong> o jum\u0103tate a aluni\u021bei nu este similar\u0103 cu cealalt\u0103;<\/li>\n<li><strong>B \u2013 Margini (Borders):<\/strong> neregulate, \u0219terse sau franjurate;<\/li>\n<li><strong>C \u2013 Culoare:<\/strong> neuniform\u0103, pot exista nuan\u021be variate de maro, negru, roz sau chiar albastru;<\/li>\n<li><strong>D \u2013 Diametru:<\/strong> leziunea are un diametru mai mare de <strong>6 mm<\/strong> (aproximativ c\u00e2t guma unui creion);<\/li>\n<li><strong>E \u2013 Evolu\u021bie:<\/strong> leziunea \u00ee\u0219i schimb\u0103 \u00een timp culoarea, forma sau dimensiunea.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\">La acestea se pot ad\u0103uga: apari\u021bia unei aluni\u021be noi, a unei leziuni care nu se vindec\u0103, a unei zone care se \u00eenro\u0219e\u0219te, s\u00e2ngereaz\u0103 sau provoac\u0103 m\u00e2nc\u0103rime, precum \u0219i simptome specifice melanomului metastatic:<\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li>noduli limfatici m\u0103ri\u021bi sau duri (axilari, inghinali, cervicali);<\/li>\n<li>dureri osoase sau pierdere inexplicabil\u0103 \u00een greutate;<\/li>\n<li>tuse persistent\u0103 sau dificult\u0103\u021bi respiratorii (\u00een metastazele pulmonare);<\/li>\n<li>dureri de cap sau convulsii (\u00een metastazele cerebrale).<\/li>\n<\/ul>\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Cui se adreseaz\u0103 analiza<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Testarea muta\u021biilor BRAF este recomandat\u0103 pacien\u021bilor diagnostica\u021bi cu melanom malign, \u00een special \u00een stadii avansate sau metastatice, pentru:<\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li>evaluarea eligibilit\u0103\u021bii la terapia \u021bintit\u0103 cu inhibitori BRAF\/MEK;<\/li>\n<li>aprecierea r\u0103spunsului la tratament;<\/li>\n<li>stabilirea conduitei terapeutice personalizate \u00een func\u021bie de profilul molecular al tumorii.<\/li>\n<\/ul>\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 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 care permite detec\u021bia calitativ\u0103 a celor mai frecvente muta\u021bii BRAF la nivelul codonului 600 (V600E\/K\/D\/R\/M).<\/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\">Conform ghidurilor NCCN \u0219i ESMO, testarea muta\u021biilor BRAF este obligatorie la pacien\u021bii cu melanom operabil sau inoperabil \u00een stadiul III sau IV \u0219i este recomandat\u0103, de asemenea, pacien\u021bilor cu risc crescut de rezec\u021bie \u00een stadiul IIC.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Identificarea muta\u021biilor BRAF at\u00e2t \u00een nevi, c\u00e2t \u0219i la nivelul tumorilor primare \u0219i al leziunilor metastatice sugereaz\u0103 faptul c\u0103 muta\u021biile somatice ale genei BRAF reprezint\u0103 un eveniment timpuriu \u00een dezvoltarea melanomului.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Astfel, testarea statusului muta\u021bional BRAF a devenit o component\u0103 standard \u00een procedura de diagnostic a melanomului avansat, av\u00e2nd implica\u021bii majore \u00een alegerea tratamentului, prognostic \u0219i monitorizarea evolu\u021biei bolii.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Muta\u021biile somatice BRAF \u00een melanom sunt:<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li>Hotspot, localizate la nivelul codonului 600 \u2013 afecteaz\u0103 domeniul kinazic al proteinei BRAF, determin\u00e2nd activarea constitutiv\u0103 (necontrolat\u0103) a acesteia;<\/li>\n<li>Activatoare, implicate direct \u00een tumorigenez\u0103;<\/li>\n<li>Ac\u021bionabile terapeutic \u2013 confer\u0103 r\u0103spuns la inhibitorii BRAF aproba\u021bi de FDA;<\/li>\n<li>Frecvente, fiind identificate la:\n<ul>\n<li>peste 50% dintre pacien\u021bi,<\/li>\n<li>33\u201347% \u00een tumorile primare,<\/li>\n<li>41\u201355% \u00een metastaze;<\/li>\n<\/ul>\n<\/li>\n<li>Mai frecvente la pacien\u021bi tineri, cu expunere ocazional\u0103 la soare;<\/li>\n<li>Mai agresive comparativ cu melanoamele BRAF wild-type;<\/li>\n<li>Asociate cu metastaze cerebrale;<\/li>\n<li>Corelate cu rata redus\u0103 de supravie\u021buire \u00een stadiul IV al bolii.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Clasificarea muta\u021biilor BRAF<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong>Muta\u021bii V600<\/strong>:<\/p>\n<ul>\n<li>Localizate \u00een exonul 15, reprezent\u00e2nd &gt;90% din totalul muta\u021biilor BRAF.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\"><strong>V600E<\/strong> \u2013 (74\u201376% din cazuri)<\/p>\n<ul>\n<li>Asociat\u0103 cu r\u0103spuns crescut la inhibitorii BRAF aproba\u021bi de FDA;<\/li>\n<li>Mai frecvent\u0103 la pacien\u021bi tineri;<\/li>\n<li>Caracteristic\u0103 melanomului cutanat;<\/li>\n<li>Rar\u0103 \u00een melanomul acral sau mucosal;<\/li>\n<li>Absent\u0103 \u00een melanomul uveal.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\"><strong>V600K<\/strong> \u2013 (10\u201320% din cazuri)<\/p>\n<ul>\n<li>Asociat\u0103 cu v\u00e2rsta \u00eenaintat\u0103, sexul masculin, localizarea tumorii primare la nivelul capului \u0219i g\u00e2tului;<\/li>\n<li>Are o evolu\u021bie mai agresiv\u0103, risc crescut de metastazare \u0219i rata mai redus\u0103 de supravie\u021buire \u00een stadiul IV, comparativ cu V600E.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\"><strong>V600R\/D\/M<\/strong> \u2013 (~6%)<\/p>\n<ul>\n<li>Muta\u021bii mai rare, cu semnifica\u021bie clinic\u0103 variabil\u0103.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\"><strong>Muta\u021bii non-V600<\/strong>:<\/p>\n<ul>\n<li>Localizate \u00een exonii 11 \u0219i 15, dar \u00een afara codonului 600;<\/li>\n<li>Rar \u00eent\u00e2lnite;<\/li>\n<li>Pot fi rezistente la inhibitorii BRAF de prim\u0103 genera\u021bie;<\/li>\n<li>Impactul lor terapeutic este variabil \u0219i necesit\u0103 corelare cu alte analize moleculare.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Importan\u021ba detec\u021biei muta\u021biilor V600 \u00een gena BRAF \u00een melanom<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Testarea contribuie la:<\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li>ob\u021binerea unui rezultat concret \u0219i rapid;<\/li>\n<li>identificarea op\u021biunilor terapeutice compatibile cu profilul molecular tumoral;<\/li>\n<li>stabilirea eligibilit\u0103\u021bii pentru tratamente personalizate cu inhibitori BRAF \u0219i BRAF\/MEK;<\/li>\n<li>excluderea terapiei \u021bintite la pacien\u021bii BRAF V600 negativi, pentru care sunt necesare alte op\u021biuni terapeutice.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Particularit\u0103\u021bi tehnice<\/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 precis\u0103 \u0219i eficient\u0103, care prezint\u0103 urm\u0103toarele avantaje:<\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li>Cost redus \u0219i durat\u0103 scurt\u0103 de analiz\u0103, comparativ cu tehnologia NGS;<\/li>\n<li>Sensibilitate crescut\u0103 \u2013 permite amplificarea chiar \u0219i a unor cantit\u0103\u021bi reduse de ADN, esen\u021bial\u0103 pentru probele FFPE, unde materialul genetic este adesea limitat;<\/li>\n<li>Specificitate ridicat\u0103 \u2013 detecteaz\u0103 muta\u021bii prezente \u00eentr-o frecven\u021b\u0103 redus\u0103 \u00een proba tumoral\u0103;<\/li>\n<li>Robuste\u021be \u2013 ofer\u0103 rezultate fiabile chiar \u0219i \u00een probe cu ADN tumoral de calitate suboptim\u0103, predominante \u00een materialele FFPE (fragmente scurte de ADN);<\/li>\n<li>Limit\u0103 de detec\u021bie sc\u0103zut\u0103 \u2013 permite identificarea variantelor cu frecven\u021b\u0103 alelic\u0103 redus\u0103 (p\u00e2n\u0103 la 1% ADN mutant \u00eentr-un fond de 99% ADN normal), inclusiv \u00een biopsii cu con\u021binut tumoral mic.<\/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; muta\u021biile non-V600 pot necesita teste suplimentare pentru o caracterizare complet\u0103 a profilului molecular;<\/li>\n<li>Nu permite detec\u021bia tuturor muta\u021biilor rare ale genei BRAF sau a altor mecanisme de rezisten\u021b\u0103 la terapie;<\/li>\n<li>Probele cu con\u021binut crescut de melanin\u0103 sau deriva\u021bi ai acesteia pot prezenta e\u0219ec de amplificare (rezultat neconcludent), melanina fiind un inhibitor al reac\u021biei PCR;<\/li>\n<li>Probele de calitate redus\u0103 \u2013 material tisular insuficient, procent tumoral &lt;2%, concentra\u021bie ADN &lt;1 ng, ADN degradat sau denaturat ca urmare a 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\"><strong style=\"color: #ff9900\">Recoltare \u0219i condi\u021bii<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Testul se efectueaz\u0103 pe sec\u021biuni de \u021besut tumoral inclus \u00een parafin\u0103 (FFPE), cu o grosime de aproximativ 5 microni, etalate pe lam\u0103 microscopic\u0103 f\u0103r\u0103 colorare prin metoda clasic\u0103 hematoxilin\u0103-eozin\u0103.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Medicul anatomo-patolog selecteaz\u0103 zona cu cea mai mare celularitate tumoral\u0103, evit\u00e2nd regiunile cu necroz\u0103, fibroz\u0103 sau infiltrat inflamator, pentru a asigura calitatea optim\u0103 a probei de ADN.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Testarea genetic\u0103 pentru detec\u021bia muta\u021biilor \u00een gena BRAF se realizeaz\u0103 prin metoda Real-Time PCR, care permite identificarea rapid\u0103 \u0219i precis\u0103 a muta\u021biilor punctiforme relevante.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong style=\"color: #ff9900\">Analize asociate recomandate<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li><span style=\"color: black;background-color: white\">Panel genetic somatic pan-cancer din biopsie lichida &#8211; 52 gene<\/span><\/li>\n<li><span style=\"color: black;background-color: white\">Panel 52 gene relevante in tumori solide Oncomine Focus Assay ADN + ARN<\/span><\/li>\n<li><span style=\"color: black;background-color: white\">Panel genetic somatic melanom [MELA\/ N525 + N408]<\/span><\/li>\n<li><span style=\"color: black;background-color: white\">Solid tumor panel-Panel genetic somatic tumori solide (149 gene &#8211; multiorgan)<\/span><\/li>\n<\/ul>\n<\/p>\n<p class=\"ql-align-justify\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p class=\"ql-align-justify\"><strong>Melanomul cutanat (MC)<\/strong> reprezint\u0103 cea mai sever\u0103 form\u0103 de cancer de piele, cauzat\u0103 de proliferarea anormal\u0103 a melanocitelor din epiderma pielii.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Managementul melanomului a avansat semnificativ \u00een ultimii ani, ca urmare a descifr\u0103rii profilului genetic al acestei tumori \u0219i a identific\u0103rii biomarkerilor moleculari reprezenta\u021bi de muta\u021bii somatice \u00een gene driver (BRAF, NRAS), care au permis dezvoltarea terapiei \u021bintite cu inhibitori BRAF \u0219i\/sau BRAF\/MEK.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Testarea molecular\u0103 a <strong>genei BRAF<\/strong> permite identificarea muta\u021biilor hotspot cu importan\u021b\u0103 major\u0103 \u00een diagnostic, prognostic \u0219i tratament.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">Analiza se realizeaz\u0103 prin tehnologie Real-Time PCR, care permite detec\u021bia calitativ\u0103 a celor cinci muta\u021bii localizate la nivelul exonului 15, codonul 600. Cele mai frecvent \u00eent\u00e2lnite \u00een melanom sunt muta\u021biile V600E \u0219i V600K.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><\/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-27619","product","type-product","status-publish","product_cat-analize","product_cat-oncogenetica","product_cat-serviciu-laborator","pa_medical-conditions-melanom","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 4.9.9 - aioseo.com -->\n\t<meta name=\"description\" content=\"Melanomul cutanat (MC) reprezint\u0103 cea mai sever\u0103 form\u0103 de cancer de piele, cauzat\u0103 de proliferarea anormal\u0103 a melanocitelor din epiderma pielii.Managementul melanomului a avansat semnificativ \u00een ultimii ani, ca urmare a descifr\u0103rii profilului genetic al acestei tumori \u0219i a identific\u0103rii biomarkerilor moleculari reprezenta\u021bi de muta\u021bii somatice \u00een gene driver (BRAF, NRAS), care au permis dezvoltarea terapiei \u021bintite cu inhibitori BRAF \u0219i\/sau BRAF\/MEK.Testarea molecular\u0103 a genei BRAF permite identificarea muta\u021biilor hotspot cu importan\u021b\u0103 major\u0103 \u00een diagnostic, prognostic \u0219i tratament.Analiza se realizeaz\u0103 prin tehnologie Real-Time PCR, care permite detec\u021bia calitativ\u0103 a celor cinci muta\u021bii localizate la nivelul exonului 15, codonul 600. 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Cele mai frecvent \u00eent\u00e2lnite \u00een melanom sunt muta\u021biile V600E \u0219i V600K.\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-oncogenetica\/detectia-mutatiilor-in-gena-braf-in-melanom-5-mutatii-in-codonul-600-v600e-k-d-r-m-tesut-inclus-in-parafina\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-06-24T13:45:33+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-02-27T16:05:06+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 melanom (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=\"Melanomul cutanat (MC) reprezint\u0103 cea mai sever\u0103 form\u0103 de cancer de piele, cauzat\u0103 de proliferarea anormal\u0103 a melanocitelor din epiderma pielii.Managementul melanomului a avansat semnificativ \u00een ultimii ani, ca urmare a descifr\u0103rii profilului genetic al acestei tumori \u0219i a identific\u0103rii biomarkerilor moleculari reprezenta\u021bi de muta\u021bii somatice \u00een gene driver (BRAF, NRAS), care au permis dezvoltarea terapiei \u021bintite cu inhibitori BRAF \u0219i\/sau BRAF\/MEK.Testarea molecular\u0103 a genei BRAF permite identificarea muta\u021biilor hotspot cu importan\u021b\u0103 major\u0103 \u00een diagnostic, prognostic \u0219i tratament.Analiza se realizeaz\u0103 prin tehnologie Real-Time PCR, care permite detec\u021bia calitativ\u0103 a celor cinci muta\u021bii localizate la nivelul exonului 15, codonul 600. 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