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2013, vol. 32, br. 4, str. 354-360
Somatske mutacije i analiza polimorfizama u pleomorfnim adenomima pljuvačnih žlezda
aUniverzitet u Beogradu, Stomatološki fakultet
bUniverzitet u Beogradu, Stomatološki fakultet, Klinika za maksilofacijalnu hirurgiju
cUniverzitet u Beogradu, Stomatološki fakultet, Klinika za bolesti zuba i endodonciju
dUniverzitet u Beogradu, Institut za nuklearne nauke Vinča, Beograd-Vinča

e-adresajelena,milasin@stomf.bg.ac.rs
Projekat:
Genetička kontrola i molekularni mehanizmi u malignim, inflamatornim i razvojnim patologijama orofacijalne regije (MPNTR - 175075)

Ključne reči: pleomorfni adenom; HER-2; c-myc; survivin; MMP-9
Sažetak
Uvod: U ispitivanjima mehanizama nastanka tumora pljuvačnih žlezda uglavnom dominiraju citogenetičke studije, pa su tako detektovane i opisane različite hromozomske translokacije sa specifičnim obrascem javljanja. Međutim, molekularne promene u ovim tumorima i dalje su relativno slabo poznate, a pogotovo je malo podataka o potencijalnom značaju signalnog puta HER-2/H-ras/c-myc u razvoju i progresiji pleomorfnih adenoma (PA). Takođe, retki su i podaci 0 polimorfizmima pojedinačnog nukleotida (SNP) kao faktora predispozicije za nastanak PA. Metode: Analize somatskih mutacija urađene su metodama real-time PCR (analiza amplifikacije HER-2 i c-myc), PCR-SSCP i sekvenciranja (detekcija tačkastih mutacija u H-ras). Ana I iza polimorfizama pojedinačnih nukleotida (SNP) vršena je prime- nom metode PCR-RFLP (u genima za survivin i MMP-9). Rezultati: Amplifikacija gena HER-2 detektovana je u 13%, c-myc u 9% a tačkaste mutacije u kodonima 12/13 H-ras gena u 17% uzoraka. Nije ustanovljena veza između ovih promena i kliničkih odlika adenoma. Na malom uzorku karcinoma, pokazano je da je amplifikacija HER-2 povezana sa recidivima tumora. Nosioci C alela u -31G/C SNP gena za survivin imaju četiri puta manji rizik od nastanka PA (p=0,05), dok nosioci varijantnog alela T kod -1562 C/T SNP u MMP-9 genu imaju četiri puta veći rizik da obole od PA u odnosu na kontrolu (p<0,001). Zaključak: Dužim praćenjem pacijenata sa PA mogla bi da se ustanovi prognostička uloga HER-2 i c-myc amplifikacija kao indikatora za transformaciju adenoma u karcinom. Polimorfizmi u promotorima gena za survivin i MMP-9 predstavljaju modulatore rizika za razvoj pleomorfnih adenoma u srpskoj populaciji.
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O članku

jezik rada: engleski
vrsta rada: izvorni članak
DOI: 10.2478/jomb-2013-0048
objavljen u SCIndeksu: 13.11.2013.

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