{"entity":{"id":"uveal-melanoma-prognostic-markers","kind":"term","name":"Uveal melanoma prognostic markers (GNAQ/GNA11, monosomy 3, gene-expression class)","aka":["GNAQ","GNA11","GNAQ/GNA11 mutation","monosomy 3","chromosome 3 loss","disomy 3","8q gain","DecisionDx-UM","gene expression profile class 1","class 2 uveal melanoma","GEP class 1","GEP class 2","PRAME expression","EIF1AX","PLCB4","CYSLTR2","uveal melanoma genetics"],"tldr":"Nearly all eye melanomas start with a mutation in GNAQ or GNA11, which is why skin-melanoma drugs do not work on them; what decides whether the tumour will spread to the liver is a second layer: loss of chromosome 3 with BAP1 mutation and a class 2 gene-expression profile mean high risk, while EIF1AX or SF3B1 mutations and class 1 mean low or delayed risk.","summary":"What is measured: the driver and the metastatic risk of a uveal melanoma. How: fine-needle aspiration at the time of plaque brachytherapy or tissue from the enucleated eye, tested for GNAQ or GNA11 (about 90 percent; PLCB4 and CYSLTR2 in most of the rest; BRAF is absent), chromosome 3 and 8q status by FISH, MLPA or SNP array, a 15-gene expression profile (DecisionDx-UM class 1A, 1B or 2, with PRAME status adding risk), BAP1 immunohistochemistry or sequencing, and SF3B1 (late metastases) and EIF1AX (good outlook) mutations; AJCC size, ciliary body involvement and extraocular extension are combined in tools such as the Liverpool Uveal Melanoma Prognosticator Online. What a result changes: class 2 or monosomy 3 with 8q gain carries about a 70 percent risk of metastasis at five years against under 5 percent for class 1A, so it sets surveillance (liver MRI or ultrasound every six months for high risk) and eligibility for adjuvant trials (sunitinib, crizotinib, adjuvant tebentafusp in ATOM); HLA-A*02:01 typing decides tebentafusp in metastatic disease, the only drug with a survival benefit; MEK inhibitors and checkpoint inhibitors have low activity; PRAME-directed T-cell therapies (brenetafusp, IMA203) are in trials. Where it matters: uveal melanoma.","asOf":"2026-09-17","links":[],"tags":[],"related":["bap1-loss","hla-a02-restriction","tebentafusp","brenetafusp","prame","sf3b1-mutation","fish","gene-expression"],"cancers":["uveal-melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"category":"Biomarkers"},"route":"/terms/uveal-melanoma-prognostic-markers/","neighbours":{"term":[{"id":"bap1-loss","kind":"term","name":"BAP1 loss","route":"/terms/bap1-loss/"},{"id":"fish","kind":"term","name":"FISH / ISH (in situ hybridisation)","route":"/terms/fish/"},{"id":"gene-expression","kind":"term","name":"Gene expression","route":"/terms/gene-expression/"},{"id":"hla-a02-restriction","kind":"term","name":"HLA-A*02:01 restriction","route":"/terms/hla-a02-restriction/"},{"id":"sf3b1-mutation","kind":"term","name":"SF3B1 mutation","route":"/terms/sf3b1-mutation/"}],"drug":[{"id":"brenetafusp","kind":"drug","name":"Brenetafusp","route":"/drugs/brenetafusp/"},{"id":"tebentafusp","kind":"drug","name":"Tebentafusp","route":"/drugs/tebentafusp/"}],"target":[{"id":"prame","kind":"target","name":"PRAME","route":"/targets/prame/"}],"cancer":[{"id":"uveal-melanoma","kind":"cancer","name":"Uveal melanoma","route":"/cancers/uveal-melanoma/"}]}}