{"id":77084,"date":"2017-03-29T12:34:00","date_gmt":"2017-03-29T12:34:00","guid":{"rendered":"http:\/\/humanitasnet-new.local\/cure\/analiza-citogenetica\/"},"modified":"2017-03-29T12:34:00","modified_gmt":"2017-03-29T12:34:00","slug":"analiza-citogenetica","status":"publish","type":"cure","link":"https:\/\/humanitas-net.humweb.webiz.team\/ro\/treatments\/analiza-citogenetica\/","title":{"rendered":"Analiz\u0103 citogenetic\u0103"},"content":{"rendered":"<h2 id=\"analiza-citogenetica\">Analiz\u0103 citogenetic\u0103<\/h2>\n<p>&nbsp;<\/p>\n<h2 id=\"ce-este-studiul-analizei-citogenetice\">Ce este studiul analizei citogenetice?<\/h2>\n<p>Analiza citogenetic\u0103 (cariotip sau cromozomial\u0103 sau hart\u0103) este studiul cromozomilor celulelor. Cromozomii con\u021bin gene care sunt formate din ADN, molecula care con\u021bine toate informa\u021biile necesare \u00een construc\u0163ia unui individ \u0219i func\u021bionarea organismului acestuia.<\/p>\n<p>\u00cen celul\u0103 uman\u0103 exist\u0103 46 de cromozomi, 23 de cromozomi provin de la tata (sperm\u0103) \u0219i 23 din (celula ou) mam\u0103. Celulele de sperm\u0103 \u015fi ou\u0103 sunt celulele embrionare \u015fi sunt singurele care con\u0163in doar 23 de cromozomi. \u00cen cazul \u00een care sperma transport\u0103 cromozomul X, se va na\u0219te o femeie, \u00een cazul \u00een care poart\u0103 cromozomul Y, se va na\u0219te un mascul. Cariotipului unei femei normale va fi apoi 46, XX \u00een timp ce cea a unui mascul 46, XY. Pentru a studia cromozomi avem de a folosi tehnici de cultur\u0103 \u00een timpul diviziunii celulare pentru a le vizualiza.<\/p>\n<h2 id=\"\"><\/h2>\n<h2 id=\"care-este-utilizarea-analizei-citogenetice\">Care este utilizarea analizei citogenetice?<\/h2>\n<p>Analiza citogenetic\u0103 este pentru a testa dac\u0103 nu exist\u0103 modific\u0103ri ale num\u0103rului \u0219i\/sau structura de cromozomi care pot fi responsabile pentru boli caracterizate prin sindromul Down, infertilitate\/sterilitate (de exemplu, sindroame Turner \u015fi Klinefelter), psihomotorii \u0219i limbajul sindrom, cre\u0219terea \u0219i dezvoltarea. Chiar \u0219i expunerea la avort precoce poate fi rezultatul unei erori cromozomiale \u00eentr-unul dintre p\u0103rin\u021bi (3-5% din cazuri).<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"atunci-cand-trebuie-sa-se-supuna-analizei-citogenetica\">Atunci c\u00e2nd trebuie s\u0103 se supun\u0103 analizei citogenetic\u0103?<\/h2>\n<ul>\n<li>citogenetic\u0103 prenatal\u0103 se realizeaz\u0103 \u00een sarcini \u00een care exist\u0103 un risc crescut de anomalii cromozomiale la f\u0103t, v\u00e2rsta mamei egal\u0103 sau mai mare de 35 de ani (finalizata \u00eenainte de na\u0219terea copilului), suma num\u0103rului incorect de cromozomi, p\u0103rin\u021bi care transport\u0103 rearanjamente structurale care nu prezint\u0103 semne clinice, p\u0103rin\u0163i cu numere de eroare de cromozomi sexuali (de exemplu 47, XXX, 47, xXY), malforma\u021bii congenitale eviden\u021biate \u00een examin\u0103rile cu ultrasunete, indica\u0163ii rezultate din testele biochimice (de exemplu, bi-test), avorturi spontane repetate. Prin retragerea de e\u0219antionare corionice trans-abdominale pot fi efectuate \u00een timpul primei trimestru (9-12 s\u0103pt\u0103m\u00e2ni) sau amniocenteza \u00een al doilea trimestru de sarcin\u0103 (15-18 s\u0103pt\u0103m\u00e2ni). Celulele CVS sunt luate din placenta (corionica de prelevare a probelor vilozit\u0103\u0163ilor), care au aceea\u0219i origine (\u0219i, prin urmare, aceea\u0219i genetic\u0103) fetal\u0103, \u00een timp ce amniocenteza este pentru a studia celulele fetale g\u0103site \u00een lichidul amniotic (amniocenteza).<\/li>\n<li>citogenetice postnatale. Karyotyping se efectueaz\u0103 la pacien\u021bii cu sindrom cromozomial suspect, p\u0103rin\u021bii \u0219i membrii de familie ai celor cu anomalii cromozomiale, p\u0103rin\u021bii cu malforma\u021bii sau subiec\u021bi cu sindrom cromozomial suspect care au murit f\u0103r\u0103 diagnostic, \u00een cazul \u00een care exist\u0103 retard mintal \u0219i\/sau defecte de na\u015ftere, retard, la sugarii n\u0103scu\u021bi sau mor\u021bi, cupluri cu avorturi spontane repetate, infertilitate de sex masculin, femeile cu amenoree primar\u0103 sau secundar\u0103 (absen\u021ba sau \u00eentreruperea ciclului menstrual).<\/li>\n<li>citogenetic\u0103 de material de avort. Aproximativ 15-20% din totalul sarcinilor rezultate recunoscute \u00eentr-un avort spontan \u0219i mai mult de 50% au un num\u0103r modificat \u0219i\/sau structura de cromozomi, care se datoreaz\u0103 \u00eentreruperii sarcinii. Studiul citogenetic de \u021besuturi abortive este, prin urmare, de o importan\u021b\u0103 fundamental\u0103 pentru \u00een\u021belegerea cauzei \u00eentreruperii sarcinii, \u0219i pentru a sprijini perechea (la fel ca \u00een cele mai multe cazuri cromozomiale eroarea este pur \u00eent\u00e2mpl\u0103toare \u0219i nu implic\u0103 un risc sporit c\u0103 evenimentul se repeta).<\/li>\n<li>citogenetic\u0103 de tumori. Analiza citogenetic\u0103 pot fi efectuate pentru a studia tumori, at\u00e2t hematologic (de exemplu, leucemie) \u0219i solide (de exemplu, pl\u0103m\u00e2n, s\u00e2n, ficat, vezic\u0103 urinar\u0103). Anumite rearanjamente cromozomiale sunt tumori-specifice \u0219i, prin urmare, permite un diagnostic corect, comparativ cu o suspiciune sau \u00eendoial\u0103 clinic\u0103. De exemplu, constatarea cromozomului Philadelphia, \u00een aspiratul de m\u0103duv\u0103 osoas\u0103 de la un pacient cu suspiciune de leucemie, este utilizat pentru a diagnostica leucemia mieloid\u0103 cronic\u0103, sau prezen\u021ba t (X, 18) \u00eentr-o cultur\u0103 celular\u0103 preparat\u0103 din biopsia tumorii solide, permite a diagnostica un sarcom sinovial.<\/li>\n<\/ul>\n<p style=\"margin-left: 18pt;\">Tehnologii noi: hibridizare fluorescent\u0103 \u00een situ (FISH)<\/p>\n<p style=\"margin-left: 18pt;\">Dezvoltarea unor tehnici sofisticate, definite \u00een citogenetic\u0103 molecular\u0103, cum ar fi hibridizare fluorescent\u0103 \u00een situ (FISH), permite s\u0103 efectueze mai multe studii citogenetice \u00een profunzime, deoarece permite amplasarea unei secven\u021be de ADN specifice privind preparatele fixe de cromozomi, nuclee interfazice \u015fi sec\u021biuni de \u021besuturi, ob\u021binute din orice tip de material biologic (s\u00e2nge, biopsii, lichid amniotic, game\u0163ilor), fie c\u0103 este vorba \u00een stare proasp\u0103t\u0103, crioconservat sau parafin\u0103. Tehnica FISH se bazeaz\u0103 pe propriet\u0103\u021bile denaturarea ADN-ului \u00eentr-un mod reversibil (deschiderea dublu helix) \u0219i asigur\u0103 leg\u0103tura dintre un fragment de ADN specific regiunii de interes &#8211; marca\u021bi cu compu\u0219i fluorescen\u021bi (sond\u0103) &#8211; \u0219i secven\u021ba de ADN complementar preparat care este montat pe o lam\u0103 de microscop: regiunea cromozomial\u0103 de interes este at\u00e2t de u\u0219or de identificat cu un microscop cu fluorescen\u021b\u0103.<\/p>\n<p style=\"margin-left: 18pt;\">FISH este un complement indispensabil pentru citogenetica tradi\u021bional\u0103 care se caracterizeaz\u0103 printr-o putere mai mare de rezolu\u021bie, ceea ce face posibil\u0103 caracterizarea anomaliilor cromozomiale \u00een numer \u0219i structur\u0103, care nu pot fi definite prin tehnicile de citogenetic\u0103 clasice \u0219i identificarea rearanjamente criptice, care nu sunt vizibile chiar \u0219i pe benzi de \u00eenalt\u0103 rezolu\u021bie. FISH nu se aplic\u0103 la o analiz\u0103 de rutin\u0103 cariotip, dar numai \u00een cazuri selectate pe baza suspiciunilor specifice de diagnostic sau pentru a aprofunda anumite anomalii citogenetice.<br \/>\nUna dintre cele mai recente aplica\u021bii este \u00een domeniul oncologiei: \u00een multe cazuri, de fapt, \u00een special, pentru culturile de tumori solide, care nu beneficiaz\u0103 de cre\u0219tere \u0219i diviziune celular\u0103 \u0219i, prin urmare, nu se poate eviden\u021bia cromozomi pentru ai analiza. \u00cen plus, nivelul de rezolu\u021bie al studiului efectuat cu citogenetic\u0103 tradi\u0163ionala, nu ne permite s\u0103 identific\u0103m anomaliile care se poate referi la o singur\u0103 gen\u0103.<br \/>\n\u00cencep\u00e2nd cu anul 2000, au fost dezvoltate sonde de ADN capabile s\u0103 recunoasc\u0103 anomalii specifice, de exemplu, cancerul de vezica urinar\u0103, pentru care sunt utilizate patru sonde care recunosc cromozomi 3, 7, 17:09 eticheta\u0163i diferit (fluorocromi multicolor\u0103 FISH).<\/p>\n<p style=\"margin-left: 18pt;\">Laboratorul de citogenetic\u0103 al Institutului Clinic Humanitas este un centru de referin\u021b\u0103 pentru studiul cancerului de vezica urinar\u0103. Dup\u0103 un studiu efectuat pentru a testa eficien\u021ba acestui test, a fost introdus\u0103 analiza UROVYSION\u00ae \u00een practica clinic\u0103, \u00een colaborare cu Unitatea de Urologie. Testul este neinvaziv \u0219i permite detectarea \u00een 48 de ore, prin intermediul celulelor tumorale ob\u021binute dintr-o prob\u0103 de urin\u0103 simpl\u0103. Testul are o putere predictiv\u0103 mare, ceea ce \u00eenseamn\u0103 c\u0103 FISH identific\u0103 anomalii cromozomiale tipice de cancer \u00eenainte de a exista dovezi ale bolii sau investigarea cystoscopic\u0103 pozitiv\u0103 a altor markeri de diagnostic, cum ar fi CTM (celule tumorale maligne). \u00cen anul 2001, testul a fost aprobat de Food and Drug Administration (FDA) pentru monitorizarea recurent\u0103 a bolii la pacien\u021bii care au fost deja diagnostica\u0163i cu cancer \u015fi au suferit o interven\u021bie chirurgical\u0103 pentru a elimina \u0219i\/sau terapia cu BCG, iar \u00een 2004 pentru diagnosticul la pacien\u021bii cu hematurie.<\/p>\n<p style=\"margin-left: 18pt;\">Tehnica FISH poate furniza, de asemenea, informa\u021bii cu privire la terapia cea mai adecvat\u0103 pentru un anumit tip de cancer la un pacient individual (Targeted Therapy). Este cunoscut, de exemplu, c\u0103 pacien\u021bii cu cancer de s\u00e2n care au FISH pozitiv pentru amplificarea unei gene numite HER-2\/neu, a c\u0103rui protein\u0103 este expus\u0103 pe membrana celular\u0103 a tumorii, de a r\u0103spunde la tratamentul cu un medicament special, trastuzumab, un anticorp care se leag\u0103 la neutralizarea receptorilor (imunoterapie). Testul se nume\u015fte PATHVYSION\u00ae \u015fi este aprobat de FDA. FISH poate fi de asemenea folosit pentru a studia amplificarea unei alte gene numite EGFR \u00een cancerul pulmonar \u0219i cancerul de colon. De asemenea, \u00een acest caz, se pot utiliza medicamente diferite \u00een func\u021bie de faptul dac\u0103 tumora pacientului este g\u0103sit\u0103 sau nu, \u00een func\u021bie de amplificarea genei. \u00cen aceste cazuri nu este o terapie care utilizeaz\u0103 anticorpi, doar molecule mici, care inhib\u0103 diviziunea celular\u0103 (terapie biologic\u0103).<\/p>\n<p style=\"margin-left: 18pt;\">Noile frontiere sunt deschise cu aplicarea FISH pentru alte tipuri de cancer, cum ar fi melanomul, \u00een cazul \u00een care diagnosticul diferen\u021bial al nervului displazic este deosebit de dificil\u0103, dac\u0103 se bazeaz\u0103 exclusiv pe criterii morfologice.<\/p>\n<p style=\"margin-left: 18pt;\">Din cauza sensibilit\u0103\u021bii ridicate, specificitatea \u0219i puterea anticipativ\u0103, tehnica FISH este deosebit de eficient\u0103 \u00een studiul ambelor: hematologice \u0219i tumori solide. \u00cen special, nu numai c\u0103 este de diagnostic\/prognostic, dar este crucial \u00een alegerea tratamentului bazat pe profilul de genomic\u0103 al tumorilor.<\/p>\n","protected":false},"featured_media":0,"template":"","class_list":["post-77084","cure","type-cure","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.3 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Analiz\u0103 citogenetic\u0103 - Humanitas.net<\/title>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"ro_RO\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Analiz\u0103 citogenetic\u0103 - Humanitas.net\" \/>\n<meta property=\"og:description\" content=\"Analiz\u0103 citogenetic\u0103 &nbsp; Ce este studiul analizei citogenetice? 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