Uveal melanoma

Melanom uveje, maligni je tumor koji zauzima prvo mjesto u pojavnosti primarnih intraokularnih malignoma u odrasloj populaciji. Iako se može javiti na vjeđama, suznoj vreći i spojnici, njegova lokalizacija je najčešće u srednjoj očnoj ovojnici (uvea). U gotovo 90% slučajeva se nalazi na stražnjem dijelu, žilnici (choroidea), dok se rjeđe nalazi na šarenici (iris) i cilijarnom tijelu (corpus ciliare). Vrlo se uspješno dijagnosticira cjelovitim oftalmološkim pregledom na biomikroskopu s metodom indirektne oftalmoskopije koju najčešće nadopunjuju slikovne metode poput ultrazvuka, flouresceinske angiografije, optičke koherentne tomografije i magnetske rezonance. Terapija melanoma žilnice je otišla puno dalje od klasične oftalmološke kirurgije te je upotpunjena i radioterapijskim metodama poput lokalne brahiterapije s pločicama, te radiokirurškim metodama kao što su protonske čestice i gama nož. Današnje razumijevanje molekularnih puteva i genetskih mutacija, poput GNAQ/GNA11 mutacija kao jednih od vodećih razloga nastanka melanoma, ili BPAP1 mutacije u monosomiji kromosoma 3 kao važnog prognostičkog čimbenika metastaziranja melanoma, ostavlja velik prostor za razvoj terapije, a isto tako omogućuje specijalistima razvoj boljih prognostičkih metoda kao što je profiliranje ekspresije gena (GEP). Iako rijedak, s incidencijom koja varira 2 - 10 oboljelih na milijun ljudi godišnje, zbog patofizioloških specifičnosti, tendencije razvoja sistemske bolesti zbog visokog metastatskog potencijala, te nepostojeće djelotvorne terapije na sistemsku bolest, nerijetko završava smrću što predstavlja veliki problem suvremene medicine.Uveal melanoma is a malignant tumour and is the most common primary intraocular malignancy in adult population. Although melanoma can be localized in the eyelids, tear sack or conjucitva, its most frequent primary location is uvea. Large portion of uveal melanomas (almost 90%) is localized in choroid, while smaller portion can be found on the iris or ciliary body. Melanoma is succesfully diagnosed with complete clinical examination on slit lamp using indirect ophthalmoscopy. Other imaging methods such as ultrasound, flourescent angiography, optic coherent tomography and magnetic resonance are often used to complement clinical examination as well as for confirmation of diagnosis. Therapy of melanoma has evolved beyond classic ophthalmological surgical treatment, and is complemented with various radiotherapeutic methods such as local plaque brachiotherapy, as well as with radiosurgical methods such as proton beam therapy and gamma knife. Current understanding of molecular pathways and genetic mutations such as GNAQ/GNA11 mutations are recognized as leading causes for developement of melanoma. BPAP1 mutation in monosomy 3 is an important prognostic factor of metastatic spread, and offers potential for developement of therapy and other prognostic mechanisms such as gene expression profiling (GEP). Although uveal melanoma has incidence of 2-10 cases per million, it all too frequently has lethal outcome due to its pathophysiological characteristics, tendency for developement of systemic disease due to high metastatic potential and non-existant effective therapy for systemic disease, and as such represents major problem of modern medicine